Relevance. The prenatal diagnosis (PD) of congenital malformations of the fetus is an extremely important component of the prenatal observation, allowing you to prevent the birth of children with hard, incorrect developmental defects, with socially significant death-generic and chromosomal diseases. This is the main factor in reducing morbidity, disability and mortality. In addition, the prenatal detection of congenital abnormal brain abnormalities affects the obstetric tactics and reduces the negative psychological and social consequences for the mother and for the family as a whole, since congenital developmental defects (PRD) of the brain - this is mainly heavy and incurable diseases (Early and high-quality diagnosis of CNS development defects can objectively predict the situation and promote right choice Tactics of treatment). Thus, competent prenatal diagnosis in combination with the collection of complete information aimed at identifying various risk factors allows the doctor and pregnant risk to adequately approach the child's birth.
Methodsused for the antenatal (prenatal) diagnostics, it is advisable to divide into indirect when the object of the study is a pregnant woman, and direct, when the fruit itself is investigated. The latter can be invasive and non-invasive.
Indirect methods include the study of obstetric and gynecological anamnesis, conducting medical and genetic counseling, as well as carrying out bacteriological and serological studies. Separately, it should be said about the conduct of biochemical screening tests aimed at assessing the levels of fetoprotein, estriol, chorionic gonadotropin, etc. It should be noted that the main purpose of indirect methods is the selection of women from high-risk groups for further in-depth observation already at the level of reproductive health centers. The main indications for the direction of pregnant on PD around the world are about the same. They include:
[1
] Age of women older than 35 years;
[2
] Availability of at least two spontaneous miscarriage (abortion) in early pregnancy;
[3
] The presence in the family of a child or a fetus from a previous pregnancy with a dowon disease, other chromosomal diseases, with multiple congenital defects, family-owned chromosomal rearrangements;
[4
] Many monogenic diseases previously diagnosed in the family or the nearest relatives;
[5
] Application before and in early pregnancy of a number of pharmacological preparations;
[6
] transferred viral infections (hepatitis, rubella, toxoplasmosis, etc.);
[7
] Listening to someone from spouses before conception.
read also Article: Toxoplasmosis (to the website)
The main non-invasive methods are [ 1 ] Ultrasound (echograph) study (ultrasound) and [ 2 ] Magnetic resonance tomography (MRI).
The ultrasound examination of the central nervous system and the spinal cord in the fetus is one of the most important and responsible tasks of prenatal echography, since it has a significant impact on the optimization of obstetric tactics and the parental acceptance of the decision on the prolongation or interruption of pregnancy. The optimal deadlines for the echographic examination of the fetus to exclude most of the defects and CNS diseases are:
[1
] 11 - 14 weeks of gestation;
[2
] 19 - 21 weeks of gestation;
[3
] 30 - 33 weeks gestation.
This corresponds to the initial stages of the manifestation of various groups of defects and diseases of the CNS, as well as ensures the continuity of diagnosis and generally accepted standards of pregnancy and childbirth tactics. At the same time, the Fetal Survey Scheme should include an estimate of the echographic anatomy of the fetus with the study of the bones of the skull of the skull, the main structures of the brain, the collar space, profile, orbits, the nasal bones, the orientation of the heart, the spine, the front abdominal wall, the stomach, intestines, the bladder and limbs.
The data obtained by a number of authors indicate the high diagnostic value of the ultrasound in the prenatal diagnosis of an ARC, which allows to identify more than 80 - 90% of the malformations of the fetus development during pregnancy. A significant part of the gross pathology of the fetus development can be detected in the first trimester, while complying with the periods of the survey and all the requirements of the screening protocol for evaluating the anatomy of the fetus.
The use of modern project-class UP-devices, transvaginal echography with the use of 3 / 4D modes significantly increases the accuracy of the diagnosis. The study of the fetal brain in the medium-sagittal plane, the production of which has practically become possible in most cases using three-dimensional echography, allows differently approach to estimating the norm and pathology of the median structures of the brain. The axial cross sections of the brain of the fetus used in routine ultrasound practices did not allow to obtain a clear picture of the corn body. Expansion of the Protocol of the First Screening Research by the evaluation of "intraceranial transparency" raised the accuracy of the diagnosis of Spina Bifida in the I trimester of pregnancy.
The use of color doppler mapping to visualize the brain vessels in the fetus in early ontogenesis reliably allows you to visualize a vessel, a blood supplying specific structure, for 2-5 weeks of previously the standard echographic detection already at the end of I and in the early II trimester of pregnancy. A comprehensive assessment of the development of furrow and subarachnoid spaces makes it possible to diagnose violation of the formation of the cerebral cortex already in the II trimester of pregnancy. The anomalies of the development of the CNS, as disorders of embryogenesis and early fruit organogensis, can be detected using modern echography until 21 weeks of gestation. At the same time, the echographic signs of destructive damage and volume formations of the CNS can be diagnosed only in the II and III of trimesters of pregnancy (S.M. Voevodin, 2012).
Transvaginal echography with the study of the anatomical structures of the fetus when an ultrasound of 11-4 weeks of pregnancy is a highly informative method of prenatal diagnostics in early pregnancy, allowing to detect more than half of all congenital defects that are in most cases rude.
It is also necessary to note the value for the diagnosis of an ARP such ultrasound, as a multi-way. The severity of the multi-frame correlates with the frequency of congenital malformations of the fetus. There is a direct link between the number of accumulating waters and the frequency of development of congenital malformations of the fetus.
In general, the success of diagnostics also depends on the type of Arbitration (a number of anomalies is quite complicated for diagnosis), the period of pregnancy, in which the study, the number of accumulating waters, the constitutional characteristics of the patient (pronounced obesity creates difficulties in transabdominal scanning). Other faults that make it difficult to interpret screening results, there may be a gestational age, multiple pregnancy, ethnic affiliation of parents, diabetes of mother. Predatal diagnosis of the agent of the corpus body (the main deadlines for the detection of which - II - III trimesters of pregnancy), the spinal hernia. At the same time, despite the high accuracy and relative simplicity of ultrasound diagnostics, such absolutely lethal defects, like Akrany and Anstensephalia, some of them are detected after 24 weeks of pregnancy, which may indicate not enough high qualifications of doctors, non-compliance with screening deadlines and examination techniques Late in the direction of women on the second and third level of the survey. Another of the negative factors may be the failure of women from prenatal karyotyping. In addition, such issues of prenatal UPR Diagnostics of VDS, such as conducting differential diagnostics with rarely encountered vices remain completely unresolved.
MRI is a highly informative method of prenatal diagnostics and can be used with suspected fetal defects during the usurization, especially in cases of the ZNS anomalies. In the II and III trimesters of pregnancy, the use of MRI as an additional examination improves the diagnosis of CNS vices and makes it possible to clarify the diagnosis in the pathology of the cortex of large hemispheres, the median structures of the brain, the rear cranial fossa and disorders of the lying dynamics. MRI can be successfully used in cases where the ultrasound results are not informative. However, despite the fact that MRI is able to confirm the diagnosis established on the ultrasound, and to obtain more detailed data, a relatively high cost, the lack of standardized abstract values \u200b\u200band the limited accessibility of MRI are the reason that the ultrasound remains studying the selection of the diagnostics of the Fruit.
read also Article "MRI of the fetal brain: Review" S. Yazbek and P.E. GRANT. Neurographics, Volume 5, Number 5, 1 September 2015, PP. 181-191 (11) [Part No. 1] and [Part No. 2]
about is MRI safe during pregnancy You can read
The study of marker embryonic proteins in the serum of the mother's blood. In recent years, a particularly important role has been a study of marker embryonic proteins in mother serum, such as alpha fetoprotein (AFP), chorial gonadotropin (HCG), free estradiol and some others. The purpose of such studies is to identify women with high risk of birth of children with congenital and hereditary vices. Changes in serum markers are characteristic of 90.9% of women with congenital disorders of the development of the CNS. Conducted for optimal terms (15 - 16-week pregnancy) using three test systems The study allows you to identify up to 80% of fruits with development defects internal organs and up to 65% - with chromosomal diseases.
Prenatal laboratory diagnostics of the nervous tube anomalies is based mainly on determining the level of fetal AFP. This protein is the main component of the protein serum system of the embryo and is determined on the 30th day of gestation. Increased AFP in amniotic fluid It is a sign of the presence of an open defect of the nervous tube. In the II trimester of pregnancy, with ultrasound, it is possible to reliably identify the anomaly of the brain of the fetus. Since the formation of estriol is taking part in both the fetus and the placenta, the level of estriol can serve as an ideal indicator of the functioning of the fetoplacentar system. The lower the level of the hormone, the higher the likelihood of the development of the pathological state of the fetus.
At the same time, the interpretation of isolated biochemical test results may be difficult. When considering the curves of the distribution of the values \u200b\u200bof the main markers, there is a large zone of overlapping the norm and pathology, which does not allow to use only one marker, their complete complex is necessary: \u200b\u200bHCG, AFP and estriol.
Biochemical testing in the I trimester of gestation, which includes [ 1 ] Determination of progesterone concentrations, [ 2 ] non-conjugated estriol, [ 3 ] β-fraction of chorionic gonadotropin (β-hgch) and [ 4 ] Protein associated with pregnancy (7 - 8 or 11 - 12 weeks) is a more efficient method of prenatal screening than a traditional "triple" Test II trimester, i.e. AFP, β-hgch, estriol - at 16 - 17 weeks of pregnancy.
Despite enough high efficiency Modern non-invasive techniques, quite complete information on the karyotype of the embryo, the biochemical and genotypic features of its cells can be obtained only on the basis of the relevant studies of directly tissues of the fetus itself or its provisions (placenta, chorion) obtained by invasive way on any gestation period. Amniocentesis is most often carried out to identify chromosomal anomalies and genetic mutations, but the amniotic fluid can also be used to diagnose the defects of the nervous tube. The most frequent possible risks of the procedure are spontaneous abortion (from 0.5% to 1.0%), bleeding after the procedure, infection, breaking the fetal shells and damage or loss of the fetus.
The most informative is a comprehensive examination of pregnant women using modern ultrasound technologies in combination with biochemical screening, which increases the accuracy of the diagnosis of the Fruit CNS in the early trimester II. In addition, the identification of signs of hypoxia of the fetus may indicate the possible availability of not only fetoplacentar insufficiency, but also of congenital pathology, since hypoxia and the delay in intrauterine development significantly deteriorates the forecast for VD, which is compatible with life.
Should be rememberedthat innate brain abnormalities identified prenatally or in the neonatal period, not counting the non-permanent external defects, [ !!! ] may not have any specific clinical symptoms:
[1 ] With neuralonographic and magnetic resonance studies, in addition to specific nosological forms of congenital defects of brain development (KIARI syndrome, Dandy-Walker syndrome, occlusal hydrocephalus, etc.), you should pay attention to hypoplasies that are found much more often;
[2 ] In the absence of prenatal and neonatal diagnostics using ultrasound and MRI, conditions for late diagnosis appear, at that time, when psychoneurological symptoms are put forward in the clinical picture, while the presence of mental retardation, intracranial hypertension can serve as a basis for the formulation of such diagnoses as cereals , hydrocephalus, etc.
read also Article: Neurosonography: Uz-diagnosis of perinatal lesions of the central nervous system (on laesus-de-liro.live-journal.com)
read also Article: Dandy Walker Syndrome (to the website)
read also Article: Anomaly (malformation) KIARI I type (to the website)
read also Article: Cerebral palsy (to the website)
The highest informative value of the convulsive syndrome indicates the presence of an agent of the cornistic body or agyria, hypertensive-hydrocephalic - for the presence of congenital hydrocephalus, and motor disorders syndrome - for the presence of spinal hernia.
Conclusion. To prevent the birth of children with CNS defects (nervous tube), the following methods are used: [ 1 ] Primary screening test to identify structural anomalies of the fetus, including an open / closed nervous tube defect (anencephalia, encephanycela, spine cleavage) - ultrasound of the fetus in the II trimester of pregnancy; [ 2 ] Determining the levels of maternal serum AFP; [ 3 ] Genetic counseling of cases with positive screening results at the time of defects of the nervous tube (ultrasound + Maternal AFP in blood serum); [ 4 ] antenatal MRI as an additional method of rendering of the fetus; [ 5 ] Diagnostic amniocentesis for evaluating the karyotype of the fetus, determining the level of AFP amniotic fluid and activity of acetylcholineserase; [ 6 ] When confirming the presence of the fetus of the nervous tube defects, the family must be proposed options for the tactics of carrying out this pregnancy - both prolongation with the possibility of pre-or postnatal correction of the defect and the interruption of pregnancy during defect incompatible with life; The method of delivery is chosen individually - it can be both natural (vaginal) delivery (in the absence of contraindications for those) with the monitoring of the heart rate of the fetus and the root separation cesarean section; [7 ] Postpartum consultations to inform women about the reason for the formation of a nervous tube defect in the fetus, the possibility of repeating such a state in the fetus during subsequent pregnancies and prevention, in particular - the recommendation of folic acid admission of 5000 μg per day by parents 3 months before conception and during the first trimester pregnancy.
Congenital malformations of the fetus (PRD) - one of the most dangerous complications of pregnancy, which comes to first among the reasons leading to child disability and mortality. The appearance of a child with congenital development defects is always stunned by the family, this topic is one of the most heavier.
Statistics scares, against the background of declining infant mortality, the increase in the number of congenital malformations is observed in most countries of the world. If in Europe countries, the frequency of the Arbitration rate is 3-4 cases per 1000 genera, then in Russia it reaches 5-6 cases per 1000.
Congenital developmental vices include the defects of the nervous system development - anencephalia (lack of a brain), a back of the bifid (open hernia of the spinal cord), vices of the cardiovascular system (heart defects, etc.), malformations - atresia (absence), maxillo -line deformations - hunger lip, wolf fall and much more.
Causes of the ERP fetus
The reasons for the formation of congenital malformations are different. This pathology can be hereditary if future parents have deviations in a chromosomal set. In other cases, the source of the problem is various harmful factors: infections, frequent alcohol consumption, drugs.
One of the reasons is a lack of vitamins in the nutrition of a pregnant woman, in particular - folic acid. The recommended norm of micronutrients for a pregnant woman is one and a half times more than for women of childbearing age. And it's not by chance - the health of the child depends on this and when he is in the womb, and after his birth.
Pediatricians believe that, in addition to HDP, such diseases of newborns as iron deficiency anemia, rickets or development in development are often connected with the fact that the future mother lacked vitamins and minerals during pregnancy.
Other disorders can give aware of themselves much later - already in kindergarten and school: these are diseases of the gastrointestinal tract and metabolic diseases, primarily, as well as diabetes mellitus and obesity.
It is important to remember that lifestyle future momHer food, harmful habits create the basis for the health of its future kid. And the lack of vitamins can cause violations of the physical and mental development of the child. This largely increases the risk of birth of children with various deviations in the development and low body weight.
Key factor: folic acid
The dominant role in preventing the prevention of congenital malformations in the fetus is folic acid. It is necessary for dividing cells, growth and development of all organs and tissues, normal development of the embryo, blood formation processes. Folic acid prevents the likelihood of premature genera and breakthrough of the octoplodic shell.
This vitamin provides the necessary speed of growth and development of the future child, especially in early pregnancy. The deficiency of folic acid during pregnancy significantly increases the risk of developing congenital defects, in particular defects of the nervous tube, hydrocephalus and anensphalia. To prevent violations of the development of the nervous tube in the embryo, a woman should take at least 800 μg (0.8 mg) of folic acid every day both before and throughout the pregnancy.
Today, doctors are confident in the need for large-scale educational events that promote the planned pregnancy and preventive measures that can significantly reduce the risk of the child's birth from the VDP - in particular, the reception of drugs containing folic acid.
A number of countries, such as Argentina and Turkey, are already implementing government programs to prevent congenital pathologies of development. They consist of an educational part that explains to medical professionals and to women themselves ways to prevent the malformations of the fetus and the stimulating part - compensation 70-80% of the value of polyvitamin preparations containing folic acid.
Vitamins - for life
It is the opinion that a well-balanced daily diet of a pregnant woman contains a sufficient amount of vitamins, trace elements and in this case no additional purpose of multivitamine complexes is required. However, according to European data, vitamin failure in pregnant women is 20-30% even with the most balanced and diverse diet.
Modern research, regularly held by the RAMS, showed that the diet of a modern woman, compiled from natural products, quite adequate to our energy consumption and even excess calorie content, is not able to provide the body with the necessary amount of vitamins during pregnancy and feeding.
For more information, you can find on the website Elevite.ru
* A.e.czeizel The use of polyvitamins containing folic acid during the period of conception. Europ. J. ObStetr. Gynecol. REPRODUCTIVE BIOLOGY, 1998, 151-161.
Congenital malformations of the fetus occupy 2-3 place in the structure of the causes of the perinatal death of the fetus and the newborn. The early diagnosis of developmental defects is of great importance, which is necessary for timely resolving the issue of pregnancy prolongation, which is determined by the type of defect, compatibility with life and the forecast for postnatal development. Depending on the etiology, hereditary (genetic), exogenous and multifactorical congenital malformations of the fetus are distinguished. Inheritance include malformations arising due to mutations, i.e. persistent changes in hereditary structures in gates or zygote. Depending on what level the mutation (genes or chromosomes) occurred, isolated monogenic syndromes and chromosomal diseases. Exogenous is the vices due to the damaging effect of exogenous factors. These factors, acting during the period of gametogenesis or pregnancy, lead to congenital defects, without disturbing the structure of the hereditary apparatus.
Vices of multifactorial origin are called defects arising under the combined effects of genetic and exogenous factors. Also isolated (localized in one organ), systemic (within one organ system) and multiple (in organs of two systems or more) vices.
Vices of the central nervous system
Classification of the most common malformations of the CNS development:
1. Hydrocephaly:
Stenosis of the brain water supply;
Open hydrocephalus;
Dandy Walker Syndrome.
2. Papilloma vascular plexus.
3. Nervous tube defects:
- spina bifida;
Anencephalia;
Cefalocele.
4. Microcephalus. Hydrocephalus
Hydrocephalus- an increase in the size of the brain ventricles with the simultaneous increase in intracranial pressure, accompanied in most observations by increasing the size of the head (Fig. 28).
Fig. 28.The echographic picture of the expressed fetal hydrocephalus (the arrows indicate sharply extended brain ventricles, the bark of which is significantly idle, the size of the fetus head exceeds normal values \u200b\u200bfor this period of pregnancy)
Under the ventriculose gear, an isolated increase in ventricular dimensions, not accompanied by an increase in the size of the head. The hydrocephalus is observed with a frequency of 0.1-2.5 per 1000 newborns. About 60% of fruits with hydrocephalus - boys. The hydrocephalus can be a consequence of many diseases of different etiology. In most observations, it develops as a result of a disorder of the outflow of the spinal fluid. The communicant form of hydrocephalius is caused by extravenrial
cool obstruction, whereas a common form is an intraventricular obstacle. Occasionally to the hydrocephalus leads enhanced products of the spinal fluid (for example, on the background of papillomas of vascular plexus) or impaired reabsorption in subarachnoid space.
Exhaustioned anomalies at hydrocephalus are found in 63%: the aghenesia and dysplasia of the kidneys, the defect of the interventricular partition, the Tetrad Fallo, Meningomyelice, the splitting of the upper lip, soft and solid nose, the atresia of the anus and the rectum, the dysgenesia gonad. The hydrocephalus is represented mainly by the stenosis of the brain water supply (narrowing of the suspension of the water pipeline); open hydrocephalus (expansion of the ventricles of the brain and the subarachnoid brain system as a result of the obstruction of the extraordinary system of the exhaust of the cerebrospinal fluid); Dandy-Walker syndrome (combination of hydrocephalius, cysts of the rear cranial fossa, brainworm defects, through which the cyst is reported to the cavity of the IV ventricle). When the hydrocephalus is detected, the anatomy of brain structures should be carefully evaluated, as well as the spine to exclude spina Bifida.A comprehensive fetal survey should include an echocardiographic examination, since it is often a hydrocephalus with congenital heart defects. With hydrocephalus before the period of the viability of the fetus, it is advisable with parents to discuss the issue of interruption of pregnancy. When prolonging pregnancy shows a dynamic ultrasound observation every 2 weeks. At the increase in hydrocephalus, the maturity of light fetas should be raised the question of early delivery and shunting. The effectiveness of prenatal shunting of ventricles has not yet been proven and this operation is not widely applied. Cesarean section is shown only with pronounced macrocephalius and the absence of other malformations. If there are gross combined anomalies, worsening the forecast for life, the cefalocentsis is a choice.
Defects of the nervous tube. This term unites Anencephalius, Cefalozele and spina Bifida.
Spina Bifida.- Anomaly for the development of a spinal column resulting from a violation of the closing process of the nervous tube (Fig. 29).
The yield through the defect of the shells of the spinal cord is called meningocele. If the hernia bag contains nervous fabric, education
Fig. 29.Echographic picture spina Bifida.in the lumbosacral spine (highlighted arrow)
wears the name of meningomyelice. Distinguish spina Bifida Cysstica.(cystic shape of the spinal hernia with the formation of a hernial bag containing brain shell and / or brain substance) and spina Bifida Occulta.(a hidden shape that is not accompanied by the formation of hernia protrusion). The most frequently specified defect is localized in the lumbar and sacral spine. Frequency of occurrence spina Bifida.depends on the geographic region. In some areas of the United Kingdom, the frequency of this vice is 4 per 1000 newborns. In the US, this indicator is 0.5 per 1000, although it depends on racial and geographical features. Spina Bifida.- Development vice arising in connection with the violation of the closure of the nervous tube at the 4th na of embryonic development. This anomaly is inherited by multifactorial type. Spina Bifida may be formed as a result of mother hyperthermia, if it has diabetes mellitus, the effects of teratogenic factors, as well as to be part of genetic syndromes (with an isolated mutant genome) or chromosomal anomalies (trisomy of 13 and 18 pairs of chromosomes, triploidide, unbalanced translocation or ring chromosome ). The spinal out hernia is combined more
with 40 syndromes of multiple defective defects (hydrocephalus, congenital heart and genithe system).
The prenatal examination includes the definition of a karyotype and a thorough ultrasound study. Special attention Anatomy of head, heart, hands and feet should be given. When the meningomyelice detects, the woman's pregnancy interruption should be proposed to interrupt pregnancy. When prolonging pregnancy, a dynamic ultrasound study is shown every 2-3 weeks to assess the emergence of other features (for example, ventriculosegaly). Parents need to provide a neurosurgeon consultation to discuss the possibilities of surgical intervention after childbirth (closing of a defect or shunting), as well as a forecast for the life and health of the child. Rhodework should be carried out in large perinatal centers immediately upon reaching the light fetus of sufficient maturity. Empirical risk of repetition spina Bibida.is 3-5%. The use of large doses of folic acid (4 mg), which started in 3 months to the planned pregnancy and continued during its first half, can significantly reduce the risk of vice.
Any open defect of the nervous tube must be closed during the first 24 hours of life. Antibacterial therapy, started immediately after birth, can reduce the risk of infectious complications. The forecast for life and health depends on the location of the meningomyelice, as well as on the number and nature of the combined anomalies. Mental development Children having a normal circle of head and correctly formed brain, does not suffer. Patients with Meningomyelice, located at the L2 level and above, are almost always forced to use a wheelchair.
Anediephalia(pseudocephaliya, extracranial dancephalium) - the absence of the hemispheres of the brain and most parts of the skull, there is a defect of the frontal bone above the supurabital region, the temporal and part of the occipital bone are missing. The top of the head is covered with vascular membrane. The structures of the middle and intermediate brain are partially or completely destroyed. The pituitary and rhombid pumpers are mainly saved. Typical manifestations include scolded eyes, a large language and short neck.. This pathology occurs with a frequency of 1 per 1000. More than its
receive newborn girls. Akrany.(ex bencephalia) is the absence of a skull or a fragment of a cerebral tissue. It is more rare pathology than Anencephalia. Anedzafalia is the result of a violation of the closure of the Rostral Department of Neuropors within 28 days from the date of fertilization. There is a multifactorial and autosomal-recessive inheritance, chromosomal anomalies. Risk factors include diabetes mellitus. In animal experiments, the teratogenicity of radiation, salicylates, sulfonamides, an increased maintenance of carbon dioxide is established. Echographic diagnosis can be installed already in 12-13 weeks of pregnancy. Anencephalia and Akrania are absolutely fatal defects, so in both cases a woman should offer a pregnancy. All newborns with Anencephalia and Akrania die within 2 weeks after birth. The empirical risk of repeating an independencephalium is 3-5%. The use of large doses of folic acid (4 mg), which started in 3 months to the planned pregnancy and continued during its first half, can significantly reduce the risk of vice.
Cefalocele(Encephancele, Cranial or Occipital Meningocele, Skull Slipping) - Emptying the contents of the cranial box through the bone defect. The term "Cranial Meningocele" denote the protrusion only through the defect of the meningeal shells. When in the hernial bag, the brain tissue use the term "Encephancele". Cefalozele is rarely found (1: 2000 live births) and is a component of many genetic (Mecckel syndromes, the mid-splitting of the face) and non-mental (amniotic drying) syndromes. Cefalocene develops as a result of the impaired defect of the nervous tube and occurs in the 4th week of development. The defect in the skull, through which the brain shells and brain fabric can be rotated, is formed as a result of non-elimination of the surface ectoderma and subject to neuroectrum. When detecting cefalocene, a woman should offer a pregnancy interruption for medical testimony. When pretending pregnancy, the tactics of the delivery detection depends on the size and contents of the hernia bag. With large sizes of the defect, the prolapping of a significant amount of cerebral tissue, as well as in the presence of microcephalus and hydrocephalus, the forecast for life and health is extremely unfavorable.
Rhodeworce by checking the cesarean section in such observations is not shown. It is possible to recommend decompression of a hernia bag to create conditions for a delivery through natural generic paths. Caesarean section can be recommended in the presence of a small defect and with small sizes of a junk bag.
Microcephaly (Microencephalia) - clinical syndrome for which the decrease in the circle of the head and mental retardation is characteristic. It occurs with a frequency of 1 to 1360 newborns, with compiled anomalies of 1.6: 1000 live births. Microcephaly is a polyethological disease, in the development of which genetic (chromosomal aberrations, monogenic defects) and environmental factors play an important role. The forecast depends on the presence of combined anomalies. Trisomy on 13, 18 chromosome, meckel syndrome belong to fatal defeats. Prenatal examination should include the definition of a fruit karyotype and a thorough ultrasound study. In the absence of accompanying anomalies, the forecast depends on the size of the head: the smaller, the lower the intellectual development index. Microcephalus refers to incurable diseases. Obstetric tactics - abortion before reaching the fruit of vitality.
Anomalies of facial structures and neck
Cleaner face(Splitting the upper lip and nose) is a linear defect that spreads from the edge of the lip to the nasal hole.
The debris of the nose, combined with the cleft lip, through the alveolar processes and the solid palate can spread to the nasal cavity or even the bottom of the orbit. Bilateral debris of lips is observed in 20%, lip cleaner and nose - 25%. With one-sided lesion, the cleft is more often located on the left. The cleft of the face is about 13% of all malformations and is recorded with a frequency of 1: 800 live births. Boys have cleaners more often than girls. Combined anomalies are discovered in 50% of observations with an isolated waste cleft and only at 13% - when cleaned lips and nose. Face structures are formed between the 4th and 10th na of pregnancy. Unpaired front-distance structures merge with paired maxillary and mandibular
mi tubercles. In those observations, when the merger process does not fully, clefts are formed. Diagnose cleft face, as a rule, it is possible only in the II trimester of pregnancy when screening ultrasound examination. Predatal detection of a defect with the help of echography is difficult, but thanks to the implementation of ultrasound scanning and color Doppler mapping, the possibility of its diagnosis is expanding. Dopplerography is possible visualization of fluid movement through the nose, mouth and a throat. In the presence of cleaned, the nature of the fluid movement changes. Three-dimensional echography can clarify the diagnosis in those observations when the cleft was suspected with a two-dimensional study of cleft, but its clear visualization was not obtained. Diagnostics of anomaly can be diagnosed with fetoscopy, including embryoscopy. In the absence of combined anomalies, a generally accepted obstetric tactics is used regardless of the diagnostic period. The reception of folic acid before the next pregnancy and throughout its first half can reduce the risk of cleft.
The splitting of the upper lip (the hunger of the lip) does not prevent the act of sucking and represents only a cosmetic defect. When combining the cleavage of the upper lip, jaw and solid nose (wolf fall), functional disorders note: during sucking, milk flows through the nose due to the message of its mouth; Milk can get into the respiratory tract. Forecast is favorable: Modern surgical methods make it possible to achieve correction of cosmetic and functional defects.
Cystic hygroma(lymphangioma or consequences of the obstruction of the jugular lymphatic barrel) represents the accumulated cluster of the fluid (Fig. 30). It is characterized by the presence of single or multiple soft tissue cysts in the neck, resulting from disorders in the lymphatic system. Cystic hygromas are encountered with a frequency of 1: 200 spontaneous miscarriages (Copchiko-rash fetal size of more than 30 mm). The cystic hygroma is often combined with chromosomal aberrations (Turner syndrome, trisomy at 13, 18, 21 pairs of chromosome, mosaicism). As an isolated anomaly inherits an autosomal-recessive type. Forecast: In most observations, the fetus dies in the first two trimesters of pregnancy. About 90% need surgical treatment, in 31% develop swallowing and respiratory obstruction
Fig. thirty.Echographic picture of the cystic hygromy of the fetus neck at a 16-week pregnancy (in the field of the fetus, the liquid formation of large sizes is visualized - indicated by the arrow)
ways. Pares of the fairy nerve due to surgical treatment occurs in 24% of patients.
The obstetric tactics lies in the interruption of pregnancy in the early diagnosis of cystic hygromy of the fetal neck, with a diligent pregnancy, labor is conducted through natural labor pathways.
Congenital heart defects
The frequency of congenital heart defects (UPU) is from 1-2 to 8-9 per 1000 live births. The most common from the UPU is the defects of interpresentrial and interventricular partitions, open arterial duct, pulmonary-artery stenosis, hypoplastic led heart departments syndrome, the only ventricle, etc. In 90% of the UPU observations are the result of multifactorial damage (genetic predisposition and environmental factors). The risk of repetition of the vice is 2-5% after the birth of one and 10-15% - two patients. Monogenic
the dignification is observed in 1-2% of children from the UPU. In 5% of children, chromosomal anomalies are found, of which trisomy are basic. In 1-2% of newborns, there is a combined effect of various teratogen. Echocardiographic research of the fetus is the most informative method of prenatal diagnostics of the UPU. Indications for prenatal diagnostics are determined by the state of the mother and the fetus.
1. Indications due to the state of the mother:
Availability of UPU in family members;
Diabetes;
Reception of pregnant drugs during organogenesis;
Alcoholism;
System red lupus;
Phenylketonuria.
2. Indications due to the state of the fetus:
Multi-way;
Non-high water
Heart rhythm disorders;
Extracardial vices;
Chromosomal disorders;
Symmetric form of intrauterine fetal growth delay. The forecast depends on the type of vice, the presence of concomitant anomalies and chromosomal disorders.
The obstetric tactics lies in the fact that after a thorough echocardiographic study, amniocentesis is carried out in order to obtain a material for chromosomal analysis. In case of detection of UPU, a non-visual fetus shows a pregnancy interruption. With a dead pregnancy, it is better to carry out a delivery in specialized perinatal centers. In combined vices and genetic anomalies, pregnancy interruption is necessary at any time.
The only ventricle of the heart.This is a severe congenital vice, in which the ventricles of the heart are represented by a single chamber or a large dominant ventricle in combination with a shared atrioventricular compound containing two atrioventricular valves. The frequency of occurrence of vice is not exactly determined. The only ventricle is easily diagnosed when using a standard four-chamber fetal heart cut. Only
the ventricle morphologically can be both right and left. The total survival rate with all types of the only ventricular heart in patients without surgery is 30%. The only ventricle is often combined with chromosomal anomalies, genetic disorders (Holt-Orama syndrome), aspiration syndrome / polyente, is often formed in some diseases of the mother, as well as against the background of the teratogenic effects of retinic acid. Prenatal examination when the single ventricle is detected, the definition of a karyotype and a detailed study of the ultrasonic anatomy of the fetus is to include. The clinical course of the disease and tactics of reference in the neonatal period are determined by the state of pulmonary and systemic blood flow.
Defect of the Interpidential Partition(DMPP) (Fig. 31). Represents the shortage of the partition separating the atrium. It is observed in 17% of all congenital heart defects and is its most common structural anomaly. It is often combined with other intracardiac anomalies, as well as non-immune fetal water. Perhaps a combination with chromosomal anomalies. Most small DMPP are not detected during the prenatal ultrasound of the fetus research. The diagnosis can only be delivered using several sections and color doppler mapping. Prenatal examination when DMPP detection should include
Fig. 31.Echographic pattern of an extensive defect of the interpresenting partition (indicated by the arrow)
the definition of a karyotype and a detailed study of the ultrasonic anatomy of the fetus. The detection of insulated DMPP in the prenatal period does not require changes to the tactics of pregnancy and childbirth. IN late time Pregnancy should be carried out to a dynamic assessment of the state of the fetus.
Defect of the interventricular partition(DMWP). Represents the shortage of the partition separating the ventricle. Localization is distinguished by the defects of the upper partition (at the level of mitral and tricuspid valves), the muscular part and the output section of the partition (subaportal, sub-humal). In size, the DMWP is divided into small (up to 4 mm) and large. DMWP can be isolated or combined with other anomalies, chromosomal defects and hereditary syndromes. In the overall structure of congenital heart defects, about 20% falls on an isolated DMWP, which is the most frequently diagnosed vice. The frequency of small, hemodynamically insignificant, muscular defects reaches 53: 1000 live births. About 90% of such defects are spontaneously close to 10 months of life and do not affect the forecast for life and health.
Most small DMWP are not detected during the prenatal ultrasound of the fetus. The diagnosis can only be delivered using several sections and color doppler mapping. Most often, the DMWP is isolated, but can be combined with chromosomal anomalies, gene disorders, multiple defective defective syndromes. Prenatal examination when DMWP detection should include a definition of a karyotype and a detailed study of the ultrasonic anatomy of the fetus. Detection of isolated DMWP in the prenatal period does not require changes to the tactics of pregnancy and childbirth. In the late period of pregnancy, a dynamic assessment of the state of the fetus should be carried out. In case of suspected DMWP, parents need to provide complete information about the forecast for the life and health of the future child and notify pediatricians to ensure adequate observation of the newborn. Even with large DMWP, the disease can sometimes be asymptomatic to 2-8 weeks. In 50% of observations, small defects are spontaneously close under the age of 5 years, and from the remaining 80% disappear in adolescence. Most patients with uncomplicated DMCP celebrates a good forecast for life and health. With a favorable flow
diseases of significant restrictions of physical exertion is not required.
Abstein anomaly- Congenital heart disease characterized by an abnormal development and arrangement of tricks valve flaps. With the anomalies of Ebstine, the septal and rear sails of the three-stranded valve are developing directly from the endocarda of the right ventricle of the heart, which leads to the displacement of the abnormal valve in the right ventricle and the separation of the ventricle into two departments: the distal (linked) is active and proximal. The preceded department, connecting with the right atrium, forms a single functional education. Ebestein anomaly is 0.5% of all congenital heart defects. Ebestein anomaly can be easily diagnosed when studying the standard four-chamber fetal heart, since almost always accompanied by cardiomegaly. Prenatal vice diagnostics is based on the detection of significantly increased right of the right heart at the expense of the right atrium. The key point in the diagnosis of Ebstine anomaly is visualization of the displaced tricuspid valve against the background of the dilated right atrium and the normal myocardium of the right ventricle. An important prognostic value for Ebstin anomaly has the detection of tricuspidal regurgitation during dopplerhocardiographic exploration of the fetus. The earliest prenatal ultrasound diagnostics Ebestein's anomalies were carried out in 18-19 weeks. The forecast for life with Ebstine anomaly is usually favorable in cases where children survive without surgical treatment during the first year of life. Ebestein anomaly is not often combined with chromosomal aberrations and syndromes of multiple congenital malformations. Extraacardial anomalies are observed in 25%. The outcome in the neonatal period depends on the degree of severity of changes in the tricuspid valve. In children with a pronounced deficiency of the tricuspian valve, there is a high percentage of fatal outcomes. Clinically deficiency of the tricuspian valve is manifested by the increased cyanosis, acidosis and signs of heart failure. Operational treatment is shown in patients with severe symptoms of the disease that impede the normal life of the child. The operation includes the closure of the septal
defect, plastic trickspid valve and its movement to a typical place. Hospital mortality is 6.3%.
Tetrad Fallo- complex vice, including several abnormalities of the structure of the heart: a defect of the interventricular septum, aortic dextraposition, obstruction of the output of the pulmonary artery and the hypertrophy of the right ventricle. In the general structure of congenital heart defects, the livingborn Tetrad Fallo is 4-11%. Diagnose the Fallo tetrad when studying the four-chamber fetal heart is very difficult. When using sections through the output departments of the main arteries, it is possible to detect a typical subportal DMWP and dextraposition of aorta. An important additional criterion is the expansion and offset of the root of the aorta. Tetrad Fallo - a shock of blue type, i.e. Newborn has pronounced cyanosis aged from 6 weeks to 6 months. Tetrad Fallo refers to difficult to diagnose heart defects, which often remain unbearable when screening ultrasound exam In terms of up to 22 weeks of pregnancy. Most often, this vice is diagnosed in the third trimester of pregnancy or after birth. Tetrad Fallo does not require specific reference tactics. When identifying this pathology, a comprehensive examination and prenatal counseling is necessary. Almost 30% of those who lived with Tetraja Fallo discovered combined extracardial anomalies. Currently, more than 30 syndromes of multiple defective defects are described in whose structure includes Tetrad Fallo. Prenatal examination When detecting Tetrad Fallo should include a definition of a karyotype and a detailed study of the ultrasonic anatomy of the fetus. The forecast for life with the tetrade Fallo largely depends on the degree of obstruction of the output path of the right ventricle. Before adult, more than 90% of patients live, who was fully corrected by the Fallo Tetrad. In a remote period, 80% of patients feel satisfactorily and have normal functional indicators.
Transposure of the main arteries- heart disease, in which aorta or its most come out of the right ventricle, and pulmonary artery from the left ventricle. It is 5-7% of all congenital heart defects. Usually not diagnosed in the prenatal period during screening surveys, since the study of the health of the fetus is limited by studying
only a four-chamber cut. To identify the vice, the visualization of the main vessels is needed with the study of their location relative to each other. Normally, the main arteries are crossed, and during transpositions out of ventricles in parallel: Aorta - from the right ventricle, pulmonary artery from the left. Transposition of the main arteries with intact interventricular and interpresentation partitions is not compatible with life. About 8% of those who lived with the transposition of the main arteries have combined extracardial anomalies. Prenatal examination should include a definition of a karyotype and a detailed study of the ultrasonic anatomy of the fetus. Most newborn with the transposition of the main arteries and an intact interventricular partition from the first days of life is marked by pronounced cyanosis. Surgical correction should be carried out immediately after detecting inadequate mixing blood flows. Mortality of newborns with a similar form of surgical treatment is less than 5-10%.
Vices of the chest organs
Congenital diaphragmal hernia- Pulk arising from the slowdown in the closing process of the pleurroperitoneal channel. With this vice, there is a lack of development of the rear agent plot of the left half of the diaphragm. The absence of separation between the abdominal cavity and the chest leads to the movement of the stomach, spleen, intestines, and even the liver into the chest cavity, which can be accompanied by a displacement of the mediastinum and cause lungs. As a result, bilateral pulmonary hypoplasia is often developing in various severity. The underdevelopment of the lungs leads to an abnormal formation of their vascular system and secondary pulmonary hypertension. Congenital diaphragmal hernia occurs approximately 1 of 1,400 newborns.
There are four main types of defects: rear agent (bogdall hernia), frontoolel, sternum and hernia Morgania. Bilateral diaphragmal hernias make up 1% of all types of vice. The movement of the heart into the right half of the chest in combination with the echonegative structure (stomach) in its left half is most often diagnosed with left-sided diaphragmal hernia.
With right-sided hernias, the heart is usually shifted to the left. In the chest can also be visualized to the intestines and liver. At this vice, multi-way is often marked. Combined anomalies are observed in 23% of fruits. Among them are congenital heart defects, which make up 16%. Diagnosis of vice can already be carried out in 14 weeks of pregnancy. Mortality in congenital diaphragmal hernia correlates with the time detection time: only 33% of newborns with vice are survived in cases where the diagnosis was installed up to 25 weeks, and 67% - if hernia was revealed in a later date. The diaphragmal defects usually have multifactorial genes, but 12% of observations are combined with other malformations or part chromosomal and non-chromosomal syndromes. PRENATA LINE examination must necessarily include the definition of a fruit karyotype and a detailed ultrasound study. If combined anomalies are found, differential diagnostics can be carried out only during the conservima with the involvement of genetics, syndromologists, pediatricians. Parents should be advised to consult a children's surgeon to discuss the peculiarities of therapeutic tactics in the neonatal period, the forecast for life and health. The during the neonatal period depends on the severity of pulmonary hypoplasia and the severity of hypertension. The dimensions of the hernial formation and the volume of functioning lung fabric also have a significant impact on the outcome in the neonatal period. Anomalous lung development can be predicted in the presence of multi-way, dilatation of the stomach, as well as the movement of the liver of the fetus into the chest cavity. According to literature, only 22% of children who have been diagnosed with prenatal, remained alive. Even with an isolated congenital diaphragmal hernia, only 40% survives. The death of a newborn usually occurs as a result of pulmonary hypertension and / or respiratory failure.
Anomalies of the formation of the walls of the abdominal cavity and the defects of the development of the gastrointestinal tract
Ommopalcela (Underfloor hernia)(Fig. 32). It occurs as a result of the non-return of the abdominal organs from the amniotic cavity through the umbilical ring. The composition of Ommopalcele may include any
Fig. 32.Echographic picture of Ommophalcela (visualizes the hernia bag containing intestinal loops and liver)
visceral organs. The dimensions of hernia formation are determined by its contents.
Covered with an amniceritoneal membrane, on the side surface of which the vessels of umbilical cord. The frequency of the ommophalcela is 1 to 3000-6000 newborns. There are isolated and combined shapes of the ommophalcela. This pathology is 35-58% in trisomy, in 47% - congenital heart defects, in 40% - defects of the urogenital system, in 39% - defects of the nervous tube. The delay of intrauterine growth is detected in 20% of observations.
Prenatal ultrasound diagnostics is based on the foundation of the formation of a rounded or oval shape filled with the abdominal organs and adjacent to the front abdominal wall directly. Most often, the composition of the hernial content includes intestinal loops and liver. Pupovina is attached directly to the hernial bag. In some cases, the prenatal diagnosis can be installed at the end of the I trimester of pregnancy, although in most observations of the ommopalcele is detected in the II trimester. The forecast depends on the accompanying anomalies. Perinatal losses are more often associated with UPU, chromosomal
aberrations and prematurity. The largest defect is eliminated by one-stage operation, with large produce multi-step operations in order to close the opening in the front abdominal wall of the silicone or teflon membrane. Obstetric tactics are determined by the period of detection of vice, the presence of combined anomalies and chromosomal disorders. When the vice is detected in the early periods of pregnancy, it should be interrupted. In the case of identifying related anomalies incompatible with life, it is necessary to interrupt pregnancy at any time. The method of the delivery detection depends on the viability of the fetus, since in the process of childbirth at large ommophalcela, a tear of a hernia bag and infection of the internal organs of the fetus can occur.
Gastrossisis- The defect of the anterior abdominal wall in the octopuspic area with the eventer of the intestinal loop, covered with inflammatory exudate. The defect is usually located to the right of the navel, the hernias do not have membranes. The frequency of gastrossisis is 0.94: 10,000 newborns. Frequency of vice in pregnant women under 20 years old is higher and is 7 per 10,000 newborns.
From the late 70s. Xx in. In Europe and the United States, the trend towards an increase in the birth rate of children with gastrossisis. Select isolated and combined shapes. Isolated gastrossisis occurs more often and it accounts for an average of 79%. The combined form is detected in 10-30% of observations and most often is a combination of gastrossisis with atresia or intestinal stenosis. Among other anomalies described congenital defects of the heart and urinary system, syndrome prune-belly,hydrocephalus, small and multi-way.
Anomaly occurs sporadically, however, observations of the family disease with an autosomal dominant type of inheritance are noted.
The earliest prenatal ultrasound diagnosis with the help of transvaginal echography was carried out in 12 weeks of pregnancy. In most observations, the diagnosis is established in the II trimester of pregnancy, since false-positive diagnosis is possible in early terms (10-13 weeks) in connection with the presence of physiological intestinal hernia in the fetus. The prenatal ultrasonic diagnosis of gastrossisis is usually based on visualization of intestinal loops in an amniotic fluid near the anterior abdominal wall of the fetus. Sometimes, except for the intestinal loop, for the prediction
other organs can be in the abdominal cavity. The accuracy of the ultrasonic diagnosis of gastrossisis in the II and III of trimesters of pregnancy varies from 70 to 95% and depends on the period of gestation, the position of the fetus, the size of the defect and the number of bodies outside the anterior abdominal wall.
The general forecast for newborns with an isolated gastrossisis is favorable: more than 90% of children survive. When prolonging pregnancy, the tactics of reference in the II trimester has no features. Due to the low frequency of the combination of an isolated gastrossisis with chromosomal anomalies from prenatal karyotyping, it is possible to refrain. In the third trimester of pregnancy, it is necessary to conduct a dynamic assessment of the functional state of the fetus, since the frequency of the distress during gastrossisis is sufficiently high and in 23-50% of observations is formed a delay in the intrauterine growth of the fetus.
When detecting a gastrossisis before the fetal vitality period, pregnancy should be interrupted. With a dead pregnancy, childbirth is carried out in the institution where surgical help can be provided.
Atresia of duodenal seaside- The most frequent cause of the obstruction of the small intestine. The frequency of the anomaly is 1:10,000 live births. Etiology is unknown. The occurrence of vice under the influence of teratogenic factors is possible. Family observations of saworoduodenal atresia with an autosomongenesis type of inheritance are described. 30-52% of patients anomaly isolated, and 37% detect defects bone system: Anomalous number of ribs, the agensia of the sacrum, horse stop, double-sided cervical ribs, the bilateral absence of the first fingers of the brushes, etc. In 2%, the combined anomalies of the gastrointestinal tract are diagnosed in 2%. In 8-20% of patients detect congenital heart defects, approximately 1/3 of the observations of the atresia of the duodenum are combined with trisomy of 21 pair chromosomes. The main prenatal echographic finds at the atresia of the duodenum are multi-way and classic sign "DOUBLE BUBBLE"in the abdominal cavity of the fetus. The image of the "double bubble" appears as a result of the expansion of the part of the duodenum and the stomach. The hauling between these formations is formed by the gatekeeper part of the venture
ka and is of great importance for accurate prenatal diagnostics of this vice. In the overwhelming majority of observations, the atresia of the duodenum is diagnosed in the II and III of trimesters of pregnancy. In earlier time, the diagnosis of this vice represents significant difficulties. The most early diagnosis of the atresia of the duodenum was carried out in 14 weeks.
To determine the obstetric tactics, a detailed ultrasonic assessment of the anatomy of the internal organs of the fetus and its karyotyping is carried out. Prior to the occurrence of the pregnancy of the fetus, the abortion is shown. When detecting an isolated anomaly in the third trimester, pregnancy is possible with a subsequent delivery in the regional perinatal center and surgical correction of malformation.
Isolated ascite.Aszit is called the accumulation of fluid in the peritoneal cavity. The frequency is definitely not installed. With ultrasound examination of the fetus, the ascites manifests itself the presence of echonegative space with a thickness of 5 mm and more in the abdominal cavity. In the prenatal period, ascites can be isolated or being one of the signs of water of non-immune genesis. In addition to ascites, the fetal water can be characterized by the presence of subcutaneous edema, pleural and pericarordial effusion, as well as an increase in the thickness of the placenta more than 6 cm, multi-way and hydrocel.
Ascites can be combined with various structural anomalies, therefore it shows a thorough study of all internal organs of the fetus. Among the causes of insulated ascites should be isolated by a MECONIC peritonitis and congenital hepatitis.
Until now, in the literature there were no publications about finding an isolated ascite in the first trimester of pregnancy. Most of the observations of the early diagnosis of ascites are coming at the beginning of the II trimester of pregnancy. One of the most common causes of non-numerical water is chromosomal anomalies. With an isolated ascite, chromosomal defects are detected less often, but they must be taken into account as a possible background of the development of this pathology. When an ascite is found in the fetus, first of all it is necessary to eliminate the combined anomalies and intrauterine infections. The flow of fetal ascis depends on its etiology. Idiopathic isolated ascites has a favorable forecast. More than 50% of observations marked its spontaneous disappearance. The most common cause of insulated ascites is intrauterine infection
parvovirus B19. In prolongation of pregnancy, it is necessary to carry out dynamic echographic observation, comprising a dopylene assessment of blood flow in the venous protocol. With normal blood flow values \u200b\u200bin the venous duct in fruits with ascites in most observations there is a favorable perinatal outcome. At the increasing of ascites, some authors recommend carrying out the therapeutic puncture, especially in cases where the process is progressing in the late period of pregnancy. The main goal of puncture is to prevent the discharge of generic activity and respiratory distress in the neonatal period. When the isolated ascite is detected in the prenatal period and the exclusion of a combined pathology that is not compatible with life, after childbirth, the child needs careful dynamic observation and symptomatic therapy.
Digure of kidney and urinary tract
Agnesia kidneys- Full absence of both kidneys. The occurrence of the vice is due to the disorder in the serial circuit of the processes of normal embryogenesis from the transfers to the metanephros. The frequency is an average of 1: 4500 newborns. It is noted that two boys are discovered twice. The pathognomonic triad of the echographic signs of the kidney amenesia in the fetus is represented by the lack of their echothenium and the bladder, as well as pronounced lowers. Malotodie refers to late manifestations and can be found after the 16-18th pregnancy. Usually, bilateral kidney anesthesia is accompanied by a symmetrical form of fetal growth delay syndrome. The kidney anesthesia is most often sporadic, but can be combined with various anomalies of internal organs. The direct consequences of lowland are lung hypoplasia, skeletal and facial deformations, fetal growth delay syndrome. The kidney anesthesia is described by more than 140 syndromes of multiple congenital defects, chromosomal anomalies and teratogenic effects. After the diagnosis is established, it is necessary to carry out karyotyping in the prenatal period or after birth to eliminate chromosomal anomalies. In all the observations of Agenesia, the kidneys need to carry out a complete pathologist studies. Showing echographic
surveys of the kidneys near the nearest relatives. When prenatal detection of vice should be recommended to interrupt pregnancy in any time. In the event of a solution to a family, a conservative obstetric tactic is shown to prolong the pregnancy.
Autosomal-recessive polycystic diseases of the kidneys (infantile form).It is manifested by a bilateral symmetric increase in the kidneys as a result of the replacement of the parenchyma by secondly advanced collective tubuages \u200b\u200bwithout proliferation of the connective tissue. Various from a classic lethal version to the infantile, juvenile and even adult form. With infantile form, secondary dilatation and hyperplasia of the normally formed collective channels of the kidneys are noted. The kidneys are amazed symmetrically, while cystic formations are of size 1-2 mm. The frequency is 1.3-5.9: 1000 newborns. The main echographic criteria of vice are increased hyperehogenic kidneys, the absence of the echothen of the bladder and lowland. An increase in the size of the kidneys is sometimes so significant that they occupy a majority of the cross section of the abdomen of the fetus. A typical echographic picture may not appear before the III trimester of pregnancy. The forecast is unfavorable. Death comes from renal failure. Obstetric tactics lies in interruption of pregnancy at any time.
Polycystic adult kidney disease(autosomal dominant disease, hepatorenal polycystic disease of the adult type, type III Potter syndrome) is characterized by the replacement of the kidney parenchyma by numerous cysts different sizeswhich are formed due to the expansion of collective tubules and other tubing nephron segments. The kidneys are amazed on both sides and increased, but one-sided process can be the first manifestation of the disease. The liver is also involved in the pathological process - the periportal fibrosis develops, which has a focal nature. The etiology of the disease is unknown, but the type of inheritance causes a 50% risk of disease development, and its genetic focus is located on 16 pair chromosome. The mutant gene wears one of 1000 people. The gene penetration occurs in 100% observations, but the course of the disease can vary from severe fatal forms in an neonatal period to asymptomatic, detected only on autopsy.
Polycystic kidney(multi-minded disease, cystic disease of the kidneys, type II syndrome, dysplastic kidney disease) is characterized by cystic reincarnation of the renal parenchyma due to the primary expansion of the renal tubules. In case of multiple kidney dysplasia, the ureter and pelvis are most often atrocated or missing. The process can be bilateral, one-sided and segmental. With multiple kidney dysplasia, as a rule, is significantly increased in size; Normal shape and normal fabric are missing. The kidney is represented by multiple cysts with anechogenic content (Fig. 33).
Fig. 33.Echogram of bilateral polycystic kidney kidneys (sharply increased kidneys containing multiple cysts of different diameter - indicated by the arrow)
The size of the cyst varies in a fairly wide range and depend on the period of pregnancy. Closer to the leather period, the diameter of the cyst can reach 3.5-4 cm. The bladder is usually visualized with a unilateral process and is not visualized during a bilateral process. At the bilateral process, it is usually noted. The disease occurs mainly to sporadically and can be secondary in the complex with other syndromes. Obstetric
the tactic in a bilateral process diagnosed in early durations, due to the unfavorable forecast, is to interrupt pregnancy. With a unilateral process and a normal karyotype without combined anomalies, a common delivery is shown with the subsequent consultation of the child from a specialist.
Dration of urinary tract.Anomalies of the urinary system in the fetus, accompanied by the expansion of urinary tract, can be caused by various reasons, including bubble-ureteral reflux, idiopathic pyelectasia, obstructive violations, etc. C clinical point of view in the prenatal period is advisable to allocate pyelectasia and obstructive uropathy.
Pioektasia.Piilyectasia is characterized by excessive accumulation of fluid and expansion of renal fetus pellery.
Piilyectasia is the most frequent find in the ultrasound study of the fetus. The frequency of its development is not established, since this pathology is a sporadic phenomenon. After birth, boys are diagnosed 5 times more often. In 27% of children with hydronephrosis, a bubble-ureteral reflux is detected, bilateral doubling of ureters, bilateral obstructive megaureter, non-functioning controlling kidney and its aghenezia, in 19% - anomalies of the development of various organs. For prenatal ultrasonic diagnosis of pyelectasia, the kidney of the fetus should be examined both with transverse and longitudinal scanning. The dilatation of the renal pelvis is judged on the basis of its head-rear size during the transverse scanning of the kidney. Most researchers consider pyelectasia to expand the renal loin in the II of the pregnancy trimester more than 5 mm, and in the third trimester - more than 8 mm. When expanding the renal laughter of the fetus more than 10 mm, it is customary to talk about hydronephrosis. The most common classification of hydronephrosis in the fetus is most common:
Degree I (physiological dilatation):
Renal Lohanca: front-rear size<1 см;
Cork layer: not changed.
Degree II:
Renal Lohanka: 1.0-1.5 cm;
Cups: not visualized;
Cork layer: not changed.
Degree III:
Renal Lohanka: front seat\u003e 1.5 cm;
Cashes: slightly extended;
Cork layer: not changed.
Degree IV:
Renal Lohanka: front seat\u003e 1.5 cm;
Cups: moderately expanded;
Cork layer: slightly changed.
Degree V:
Renal Lohanka: front seat\u003e 1.5 cm;
Cups: significantly expanded;
Cork layer: Atrophy.
The expansion of the renal laughter of the fetus can be observed with various chromosomal anomalies. The frequency of chromosomal defects in fruits with pyelectation is an average of 8%. In most fruits in chromosomal anomalies, a combination of pyelectation and other developmental anomalies is detected. Moderately pronounced pyelectasia has a good forecast and the need for surgical treatment after childbirth occurs quite rarely. Most observations have a spontaneous resolution of moderately pronounced pyelectasia after the birth of a child.
Obstetric tactics depends on the occurrence of the occurrence and duration of the pathological process, as well as the degree of violation of the kidney function. The early delivery is justified at the lowland. The postnatal period shows the dynamic observation and consultation of the children's urologist.
Obstructive uropathy.The obstruction of the urinary tract in the fetus can be observed at any level: high obstruction, obstruction at the level of lacchatine-ureter cooler (OLL), the obstruction at the average level (ureter), obstruction at the level of the bubbling compound (OPMS), low obstruction (urethra). OLLS is the most common cause of obstructive uropathy by the fetus and averages 50% of all congenital urological anomalies. The main echographic signs of the OLLS include dilatation of renal pelvis with or without expanding cups; Ureterals are not visualized; The bladder may have conventional sizes or in some observations are not visualized. OLL tactics should be expectant. Installation of bubble-amniotic shunt is not shown. To ultrasound crystals
the Terrys of the OPMS in the fetus include the expansion of the ureter and pyelectasia. The bladder usually has normal dimensions. The tactics of reference is similar to that at the OLLS. The most common cause of low obstruction is the rear urethral valves. With a pronounced obstruction, there is a malformation, leading to the lung hypoplasia, deformities of facial structures and limbs, fibrosis and renal parenchyma dysplasia. The echographic picture is characterized by the presence of dilated urethra proximal to the place of obstruction, a pronounced urinary bubble expansion. The prenatal tactics at low obstruction depends on the period of pregnancy, the presence of lowland and combined anomalies, as well as the functional state of the kidneys. With moderately pronounced and unpressing pyelectasia, conservative tactics should be adhered to. In progression of UNRUCD disorders, the delivery is substantiated with a possible surgical correction of vice for the prevention of pronounced kidney disorders from the fetus. With premature pregnancy in fruits with severe obstructive uropathia, intrauterine surgical correction of vice can be carried out.
Bone Development Vices
Among the congenital defects of the bone system, Amelia (Aplasia of all extremities) is most common; Focomelia (underdevelopment of proximal sections of the limbs, while brushes and feet are connected directly with the torso); Aplasia of one of the bones of the leg or forearm; polydactilia (increasing the number of fingers on the limb); Syndactilia (decrease in the number of fingers due to the combat of soft tissues or bone cloth near the fingers); anomalous installation stop; Osteochondroflasisis, characterized by anomalies of growth and the development of cartilage and / or bones (ahondrogenesis, ahondroplasia, tanatoformous dysplasia, imperfect osteogenesis, hypophosphate, etc.).
The most important diagnosis of defects incompatible with life are most important. Many forms of skeletal dysplasies are combined with lung hypoplasia, due to small amounts of the chest due to the underdevelopment of the ribs. The development of pulmonary failure at the same time may be the cause of the death of children in the first hours of outtrute life.
Ahondroplasiait is one of the most frequent non-leaven skeletal dysplasia and is due to a new mutation in 90% of observations. Ahondroplasia is osteochondroplasia with defects of tubular bones and / or axial skeleton. Frequency - 0.24-5: 10,000 birth. The ratio of male and female fruits 1: 1. The shortening of bones during the ahondroplasia may not manifest itself at the fetus up to 24 weeks of pregnancy. The classic echographic picture includes short limbs (less than 5 percentile), small sizes of chest, macrocephalius and saddle nose. The lifespan in the ahondroplasia depends primarily on the time when small sizes of the chest will cause serious respiratory problems. Intelligent development in value is normal, but there is a high risk of neurological disorders, in particular spinal cord compression at the level of a large occipital opening, which can limit physical exercise. Macrocephalus can be the result of moderate hydrocephalus due to small size of the occipital hole. Ahondroplasia is a well-studied and common type of congenital dwarfs in newborns. Serious problems they may have a central and obstructive apnea. At the age of 6-7 years of life, chronic recurrent infections of the middle ear are often noted. In early childhood, the curvature of the lower limbs is also often observed, which in pronounced states requires surgical correction. Usually the growth of adults during ahondroplasia varies from 106 to 142 cm.
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Congenital malformations of the fetus occupy 2-3 place in the structure of the causes of perinatal mortality, and the frequency of them in recent years has increased significantly. In this regard, the early diagnosis of malformations of development, contributing to the timely decision of the possibility of further prolongation of pregnancy, which, in turn, is determined by the type of abnormal, compatibility with life and a forecast for postnatal development.
The classification of frequently encountered malformations of the central nervous system (CNS) can be represented as follows:
1. Hydrocephaly:
a) stenosis of the brain water supply;
b) open hydrocephalus;
c) Dandy Walker Syndrome.
2. Papilloma vascular plexus.
3. Nervous tube defects:
a) spina bifida;
b) anencephalia;
c) Cefalocele.
4. Microcephalus.
Hydrocephalusit occurs with a frequency of 0.3-0.8 per 1000 live births. In most observations, congenital hydrocephalus is due to obstruction at one of the sections of the circulation of the spinal fluid (SMF). Often, the hydrocephalus is combined with other anomalies: in 37% of observations, it is accompanied by other intracranial pathology - the mulflastic body hypoplasia, cefalozele, arterio-venous anomalies, arachnoid cysts; Exchangeful anomalies - 63%. Among the latter, the defects of the renal development should be noted (single and double-sided and dysplasia), the defects of the heart (defect of the interventricular partition, Tetrad Fallo), Meningomyelice, the splitting of the upper lip, solid and soft nose, anus and colon agenese and colon, dysgenezia, Mecckele syndrome . In 11% fruit detect chromosomal anomalies - trisomy of 21 pairs, balanced translocations, mosaicism.
The hydrocephalus is represented by three basic forms:
- stenosis of the brain water supply;
- open hydrocephalus;
- dandy Walker Syndrome.
Stenosis of the brain water supply (HVM) - the form of obstructive hydrocephalus, due to the narrowing of the Silviev of the water supply. The specific frequency of HVM reaches 43%, the ratio of male and female children is 1: 8. Anomaly has a polyethic nature: genetic, infectious, teratogenic and tumor factors, among which infectious (50%) prevail. In experimental studies, the role of toxoplasmosis, syphilis, cytomegalovirus infection, epidemic vapor and influenza was confirmed.
In a certain part of the observations, the cause of the stenosis of the brain water supply is genetic pathology, which can be inherited by recessive type adhesion with the X-chromosome. Inheritance adhesive with the floor is attributed to rare CBM reasons, as it occurs with a frequency of 1 case for 200 sibs of samples with hydrocephalus. However, it is possible that this type of inheritance is 25% among male children. It is assumed that glioma, meningoma, neurofibromatosis and tuberose sclerosis lead to the walls of the water supply due to the compression mechanism, and open hydrocephalus - as a result of white substance edema and external compression. Combined anomalies are found in 16% of children.
The diagnosis of this form of hydrocephalus is based on discovery in ultrasound examination of the expansion of side and III ventricles with the unchanged sizes of IV ventricle. It is necessary to conduct a thorough scan of the spine of the fetus to eliminate combined anomalies (Fig. 1).
Fig. 1. Pregnancy 21 weeks. Obstructive hydrocephalia
Forecast: mortality in childhood fluctuates between 11-30%; intellectual development May be normal.
Obstetric tactics: Prior to reaching the fruit of vitality, pregnancy interruption is shown; When diagnosing a diagnosis, the method of delivery is determined exclusively obstetric readings.
Open hydrocephalia (OG) - expansion of the brain ventricles and its subarachnoid system as a result of the obstruction of the extraordinary system of paths of the spindy liquid.
Open hydrocephalus is the second in frequency, its share accounts for 38% of all observations of hydrocephalus. The ethiology of the exhaust is not clarified. OG is detected in children with spinal defects and obliteration of the anterior sagital sinus, subarachnoid hemorrhages, papilloma vascular plexus and the lack of patching granulation. Subarachnoid hemorrhage serves as the most common cause of open hydrocephalus in newborns; In the prenatal period, it is extremely rare. It is also rarely inherited, although the frequency of repeatability reaches 1-2%, which is significantly higher than in the overall population.
Pathogenesis: Mechanical obstruction of the erectricular brain system and the impairment of the reabsorption of the SMF lead to the expansion of the subarachnoid space, and then brain ventricles; Internal hydrocephalus develops against the background of obstruction of the brain water supply, due to an increase in intracranial pressure.
Predatal diagnostics of ogs are carried out using dynamic ultrasound scanning. In this case, the pathognomonic sign is the expansion of the subarachnoid tank.
Forecast: The mortality rate reaches 11%. Most of the surviving children retains normal intelligence. When combining OG with nervous tube defects or papilloma vascular plexus, the forecast is more unfavorable.
Obstetric tactics: In the early deadlines for the detection of OG, the interruption of pregnancy is shown, with a diligent pregnancy, childbirth leads through natural generic paths.
For dandy Walker Syndrome Typically combination of the following anomalies:
1) hydrocephalus of varying degrees;
2) the cysts of the rear cranial fossa;
3) Defects of the worm of the cerebellum, through which the cyst is reported to the cavity of the IV ventricle.
Syndrome occurs in 12% of children with congenital hydrocephalus. Etiology is unknown. This syndrome can be one of the manifestations of genetic diseases (Mekkel and Warburg syndromes), as well as to be detected in chromosomal abberats (Turner syndrome, 6r-, 9Gh +, trisomy 9, triploidide). In rare observations, inheritance is possible in an autosomal-recessive type with a repetition risk to 25%.
Patoembriogenesis. According to the theory of Dandy Walker, the atresia of the holes of the punk and Majandi usually leads to the expansion of the ventricular system. The syndrome represents a complex anomaly for the development of the median structures of the brain in the field of diamond-shaped pits. The gloping of the worm of the cerebeller and the cysts of the pockets occur the secondly, due to the compression of it sharply expanded IV ventricle. There is an imbalance of products of the spinal fluid in the side, III and IV ventricles. The brain defect is varies from a complete aplasia to a small splitting. Despite the fact that the hydrocephalus is the main diagnostic sign of the Dandy Walker syndrome, most of the children at the moment of birth, it is absent, however, is manifested in the first months of the child's life.
The syndrome is often (more than 50% of observations) combines with other vices of the development of the central nervous system (the agent of the corn body, encephancele), kidney vices (polycystic) and heart (defect of the interventricular partition).
Diagnostics: This anomaly indicates the detection during the echograph of cystic formations in the rear cranial fossa; The pathognomonic acoustic sign of the syndrome is the disfect of the worm of the brain, through which the cyst is reported to IV ventricle.
Forecastunfavorable: mortality reaches 50%, 50-60% of surviving children marked the lag of intellectual development.
Obstetric tactics: In any time the pregnancy is interrupted.
Papilloma vascular plexus (PSS). Intracranial neoplasm is found with a frequency of 0.6% of all brain tumors detected in adults and 3% in children. Papilloma can be localized in any department of the ventricular system, but is often found at the level of the run-up side ventricular. The one-sided localization of the tumor is characteristic, although the bilateral process is not excluded. The most commonly PSS is represented by the fabric of the Vorsin, histologically similar to the intact vascular plexus tissue, and is benign. Nevertheless, it is possible to malignancy tumor with germination into adjacent nervous tissue. Papilloma vascular plexus is usually combined with hydrocephalus.
Etiologyunknown. In world practice, single observations of the PSS in patients with Aicardi syndrome are known (this disease is adhesive with the X-chromosome and is characterized by the agent of the corn body, chorioretinal lacunas, spinal anomalies, epilepsy and mental retardation).
PSS is diagnosed in children with hydrocephalus during neuralonography or x-ray research. In childhood, the method of choice should consider contrasting computer tomography. As the method of prenatal diagnostics, ultrasound scanning is the most informative. Echographic criteria of PSS are the asymmetry of the shape and dimensions of the contralateral ventricles, visualization on the eve of the side ventricles of weaklyogenic formations adjacent to normal vascular plexus. Prenatally PSss III and IV ventricles are not detected.
The method of selecting PSS therapy is a surgical removal of a tumor. With a benign nature of the process, operational treatment may have a favorable outcome, but the operation is technically complex and accompanied by large blood loss. With malignant defeat (more than 20% of observations), the prognosis is unfavorable. Mortality for PSS reaches 35%, and 72% of the surviving children are noted by various degrees of severity of mental and mental defects.
Obstetric tactics: Births lead through natural generic paths; The use of vaginal rowor-solving operations is contraindicated. Rhodework is recommended in large perinatal centers, where emergency neonatological and children's neurosurgical assistance can be provided. The question of using cesarean section in order to reduce the risk of generic injury with intracranial hemorrhage is not completely resolved.
Selected lectures on obstetrics and gynecology
Ed. A.N. Strizhakova, A.I. Davydova, ld Belotserkovtseva
