A rare combination of Poland syndrome and gastroschisis: clinical observation

Among congenital developmental anomalies, fetal gastroschisis is a particularly severe condition. The pathology consists of the presence of an oval hole in the abdominal wall, reminiscent of a hernial orifice, and the prolapse (eventration) of intestinal loops and, less commonly, other organs into it.

In this case, changes in the structure of the intestine and combination with other congenital defects are possible. The first complete description of the vice was made by Lycosthens in 1557. The term for diagnosis was proposed and introduced into practice by Kadler in 1733.

What causes fetal pathology?

The causes of gastroschisis have not yet been sufficiently studied and are explained by theoretical conclusions. Genetic mutations have been clearly proven in 4% of cases of twin births. The type of inheritance is called multifactorial. This means that the autosomal dominant type and the autosomal recessive type are equally important. Sporadic mutations are possible in healthy parents.

The anomaly is caused by impaired development of mesenteric vessels in the fetus. Particular importance is attached to the right umbilical vein. Insufficient nutrition of the intestinal wall causes a heart attack with the disappearance of embryonic structures designed to ensure the construction of the anterior abdominal wall.

It has been established that gastroschisis begins to form between the third and fifth weeks after conception. At this time, the intestinal prototype protrudes through the lateral ventral opening into the amniotic cavity. Therefore, the formation of the defect is associated with the abnormal development of the parietal layer of the peritoneum.

The risk increases in women with early toxicosis

Risk factors include:

• chronic maternal diseases (anemia, kidney pathology, hypo- and hypertension, systemic connective tissue diseases, endocrine and pulmonary diseases, antiphospholipid syndrome);
• an acute infectious disease suffered by the expectant mother;
• disruptions in the immune system;
• disturbance of placental circulation;
• maternal age - early first pregnancy and repeated pregnancy before 25 years of age increase the likelihood of a defect by almost 8 times;
• undernutrition of women;
• smoking;
• use of drugs, medications;
• drinking alcohol during pregnancy;
• exposure to cold, heat, radiation.

A connection has been established with changes in paternity when conceiving children from different men.

Modern approaches to the study of fruit phenotype in the era of genetic ultrasound

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This work is devoted to the study of the fetal phenotype during ultrasound examination at various stages of pregnancy using the latest Samsung technologies that optimize the diagnosis of many congenital malformations, anomalies, structural disorders, developmental features with an assessment of the significance of individual ultrasound pathological markers as potential signs of genetic syndromes and associations.

One of the leading causes of child and infant mortality is congenital malformations (CDM), among which in 20% of cases there are multiple congenital malformations (CMMD) with an established frequency of 1:250 newborns [1]. Of particular importance in the prevention of MFPR is prenatal diagnosis - a modern and highly effective method of fetal medical examination, aimed at timely detection of pathology, which subsequently determines the choice of adequate obstetric tactics for a given pregnancy and specific measures to prevent the disease in a given family in the future [2]. Its modern capabilities make it possible to identify reliably significant ultrasound markers from a complex of pathological disorders in the fetus for diagnosing genetic syndromes of various etiologies. Today, prenatal syndromology is actively developing, both in terms of expanding the range of possible laboratory tests and describing significant, key, targeted ultrasound signs of many hereditary syndromes of various origins.

The MVPR group includes hundreds of nosological forms, varying in etiology, phenotypic manifestations and prognosis. Due to the enormous heterogeneity, MVPRs represent a challenging problem for making a definitive diagnosis. The main etiological factors leading to the occurrence of syndromes with multiple malformations are gene and chromosomal mutations and the effect of unfavorable environmental factors on the fetus [3, 4].

Any hereditary or congenital genetic diseases are the result of damage to genetic information at the genomic, chromosomal or gene level. In 60% of all cases of MVPR, chromosomal syndromes occur, which have been widely studied and well diagnosed. For the laboratory diagnosis of these lesions, various and well-known methods have been developed: cytogenetic, molecular cytogenetic and molecular genetic. MVPR of non-chromosomal origin occurs in 40% of cases. Among them are syndromes, associations and unclassified complexes. In relation to non-chromosomal syndromes, cytogenetic research allows only to reject the chromosomal nature of this complex of developmental defects, but not to establish a diagnosis.

Syndromes with a known type of inheritance are represented by monogenic syndromes, in the structure of which autosomal dominant (AD) and autosomal recessive (AR) nosologies are most often found, and sporadic syndromes with various known associations (stable combinations of congenital malformations with an etiological commonality). Unclassified MVPR complexes are not registered in the international classifier of hereditary syndromes and associations (OMIM-www.omim.org), and it is not possible to judge the type of their inheritance due to the lack of published data on the causes of their occurrence. Most of the unclassified complexes are a random combination of 2–3 CDFs, but some of them may not be random, but represent new syndromes that have not been described or identified as independent nosological forms [5].

Today there is a certain number of publications on the identification of certain syndromes and associations during prenatal echography [6, 7]. However, prenatal identification of nosological forms of non-chromosomal syndromes has not yet become part of the routine practice of doctors in the field of prenatal diagnosis and is random in nature. There are no clear recommendations in the literature about a systematic approach to diagnosing hereditary syndromes of various etiologies, there are no diagnostic algorithms and specific schemes for interaction between prenatal ultrasound doctors, geneticists, and obstetricians-gynecologists.

The use of echography makes it possible to prenatally detect at least 80% of birth defects in the second and third trimesters of pregnancy and over 50% of significant disorders of the fetal anatomy already in the first trimester, starting at 11–12 weeks. The entire complex of diagnosed malformations and various microanomalies together constitutes the phenotypic spectrum of the syndrome, which consists of “core” (main, key) features and additional anomalies, the presence of which is not necessary for diagnosing the clinical nosology of the syndrome.

A revolution in prenatal ultrasound diagnostics was the emergence of volumetric echography, which, having such qualities as non-invasiveness, safety and the possibility of repeated use in one patient, is highly informative in the study of fetal anatomy and the study of its phenotype. When using various modes of volumetric echography, their advantage over conventional scanning is absolutely obvious. You can study in detail the face of the fetus (Fig. 1–4) at various stages of pregnancy, starting from the first prenatal screening at 11–14 weeks, the limbs of the fetus, and not only their presence and position (Fig. 5, 6), but also the condition and the number of fingers (Fig. 7–9) on both hands and feet. You can also study the fetal vertebrae (Fig. 10), the condition of the hard palate (Fig. 11, 12), the structure of the external ear (auricle) (Fig. 13), the condition of the main sutures of the skull and fontanelles, excluding their premature closure with cranisynostosis (Fig. 14, 15).

Rice. 1.

Normal fetal face, 12 weeks gestation.

Rice. 2.

Normal fetal profile, 21 weeks gestation.

Rice. 3.

Normal fetal profile, 23 weeks gestation.

Rice. 4.

Normal fetal phenotype, 34 weeks gestation.

Rice. 5.

Normal position of the lower extremities, 12 weeks of pregnancy.

Rice. 6.

Normal upper limb and fetal scapula, 13 weeks gestation.

Rice. 7.

Normal fetal fingers, 13 weeks gestation.

Rice. 8.

Normal phalanges of the fetal fingers, 22 weeks of pregnancy.

Rice. 9.

Fetal toes, 28 weeks gestation.

Rice. 10.

Normal structure of the fetal cervical vertebrae, 21 weeks of pregnancy.

Rice. eleven.

Normal structure of the hard palate in 2D mode, 21 weeks of pregnancy.

Rice. 12.

Normal structure of the hard palate using modern technologies, 3D mode, 21 weeks of pregnancy.

Rice. 13.

Normal structure of the fetal auricle.

Rice. 14.

Normal structure of sutures and fontanelles, 20 weeks of pregnancy.

Rice. 15.

Normal structure of sutures and fontanelles.

Based on their own research, E. Merz et al. report a higher diagnostic value of volumetric echography compared to 2D [8]. The use of its various modes allows not only to significantly supplement the information about the identified anomalies of various organ systems, but also to present the pathological phenotype in detail and clearly for specialized specialists. For example, demonstrate the level of intestinal obstruction (Fig. 16, 17) or the contents of the hemithorax in case of diaphragmatic hernia (Fig. 18, 19) both in the second trimester and in the first trimester during early prenatal screening (Fig. 20, 21). With the use of modern imaging methods, it has become possible to clearly demonstrate to a married couple the identified pathology, which is extremely important when they make a decision on further management tactics or the advisability of prolonging pregnancy in case of a lethal or disabling form of congenital pathology, such as undivided twins (Fig. 22, 23), cranial - large cerebral hernias (Fig. 24, 25) both in the first trimester and at a later date, demonstrating the contents of the hernial sac (Fig. 26, 27), reduction defects of the limbs (Fig. 28). Also, with such congenital defects of the central nervous system as ventriculomegaly (Fig. 29) and spina bifida (spina bifida), the advantages of various modes of modern 3D ultrasound methods are obvious (Fig. 30–32).

Rice. 16.

Intestinal obstruction, 19 weeks of pregnancy.

Rice. 17.

Intestinal obstruction, 25 weeks of pregnancy.

Rice. 18.

Diaphragmatic hernia.

Rice. 19.

Diaphragmatic hernia, 20 weeks of pregnancy.

Rice. 20.

Diaphragmatic hernia with intestinal rupture, 13 weeks of pregnancy.

Rice. 21.

Diaphragmatic hernia with intestinal rupture, 13 weeks of pregnancy.

Rice. 22.

Undivided twins, two heads and one body, 12 weeks gestation.

Rice. 23.

Undivided twins, one head and 2 torsos.

Rice. 24.

Large cranial hernia, 12 weeks of pregnancy.

Rice. 25.

Large cranial hernia of the occipital region, 12 weeks of pregnancy.

Rice. 26.

Cranial herniation, cerebellum outside the cranial cavity.

Rice. 27.

The cerebellum in the hernial sac during a cranial hernia.

Rice. 28.

Reducing malformation of the hand, 13 weeks of pregnancy.

Rice. 29.

Severe fetal ventriculomegaly due to aqueductal stenosis, 22 weeks of pregnancy.

Rice. thirty.

Spina bifida, defect of the lumbosacral spine.

Rice. 31.

Spina bifida, Crystal Vue mode.
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Fig. 32.

Spina-bifida, mode of superficial reconstruction.

A thorough study of the fetal phenotype using volumetric echography, knowledge of the principles of medical genetic counseling and diagnostic algorithms opens up new opportunities in the prenatal diagnosis of hereditary syndromes [9, 10].

It is also worth noting that if previously most genetic syndromes were diagnosed in late stages of pregnancy, starting from 25–26 weeks, then a real “revolution” of the so-called genetic ultrasound is associated with technical progress in the development of ultrasound scanners, which affected both the timing of detection and and on a huge number of new diagnostic capabilities that allow prenatal diagnosis of hereditary pathology in the fetus [11]. For example, clefts of the upper lip and hard palate can be diagnosed not only during the second screening examination at 20–21 weeks (Fig. 33–35), but also during the first anatomical screening ultrasound at 11–14 weeks of pregnancy (Fig. 36). The use of the latest duplex modes, together with color Doppler mapping, makes it possible to diagnose congenital heart and vascular defects, starting from the early stages (Fig. 37), and structural features of the umbilical cord (Fig. 38, 39).

Rice. 33.

Median facial cleft, 21 weeks gestation.

Rice. 34.

Cleft of the hard and soft palate, 21 weeks of pregnancy.

Rice. 35.

Lateral cleft lip.

Rice. 36.

Facial cleft, 13 weeks pregnant.

Rice. 37.

Common truncus arteriosus, 13 weeks of pregnancy.

Rice. 38.

The only artery of the umbilical cord.

Rice. 39.

Varicose veins of the umbilical vein.

Rice. 40.

Abnormal foot alignment.

Rice. 41.

Arthrogryposis multiplex, hyperextended lower limbs, bent upper limbs.

Rice. 42.

Fetal akinesia, bent legs, hyperextended legs.

It is especially important that in clinical genetics and syndromology, not only pronounced anomalies in the structure of organs and systems (OSS), but also various minor anomalies, microsigns, and developmental features are extremely important for making a correct genetic diagnosis. For example, an abnormal position of the lower extremities in an isolated state can be either a finding with an absolutely favorable prognosis (Fig. 40) or a key sign in making a diagnosis with an unfavorable prognosis for life and health, for example, in the case of fetal akinesia group syndromes (Fig. 41, 42 ).

The most informative from the point of view of syndromology seems to be the search for disorders and structural features in the head, neck, face, and hands, since more than 80% of them are localized in these areas [12]. When analyzing the spectrum of significant malformations to clarify the diagnosis of non-chromosomal syndrome in the fetus, in our own study, skeletal pathology, facial pathology, pathology of the anterior abdominal wall and finger pathology were most often encountered. The incidence of these defects was significantly different in groups of hereditary monogenic syndromes (with AD-, AR-type of inheritance) and non-hereditary syndromes (sporadic) and associations [13].

When describing the phenotype, clinical geneticists during examination often describe such features and variants of the phenotype as a protruding forehead, a wide bridge of the nose, a large nose, an upturned nose, full lips, and structural features of the eyes. For “adult” genetics, these microfeatures are well known; there is a so-called phenotype map, where the smallest features of the phenotype of the patient under study can be reflected. With the help of new technologies, it is possible to study not only the fetal orbits, but also the eyeballs in normal and pathological conditions (Fig. 43–45). Change in the shape of the palpebral fissures - the shape of the eyes (Fig. 46, 47), the position of the ears (Fig. 48), the shape of the nose - pointed (Fig. 49) or snub (Fig. 50), lips, filter length (Fig. 51) , jaw size may be the key to making the correct diagnosis of hereditary syndrome in the prenatal period [14].

Rice. 43.

Normal orbits and eyeballs.

Rice. 44.

The eyeballs are normal.

Rice. 45.

Fetal anophthalmia.

Rice. 46.

Anti-Mongoloid eye shape.

Rice. 47.

Anti-Mongoloid eye shape.

Rice. 48.

Low-set ears.

Rice. 49.

Abnormal fetal profile, pointed nose.

Rice. 50.

Abnormal fetal profile, snub, upturned nose.

Rice. 51.

Long fruit filter.

Syndromes are well diagnosed in the phenotype of which there is a “specific” sign, a highly informative sign for identifying the disease. For example, the diagnosis of acrocephalosyndactyly syndromes (Aper, Pfeiffer syndromes) [15, 16], which are characterized by a combination of craniosynostosis with complete or partial syndactyly of the fingers and toes, which can be diagnosed by ultrasound starting from the first trimester of pregnancy (Fig. 52).

With various genetic syndromes (both chromosomal and non-chromosomal) and associations, pathology of fingers of various types (pathology of their number, shape, position) is often found. For example, with the most common syndromes of chromosomal etiology, the presence of postaxial polydactyly is characteristic of trisomy 13 (Patau syndrome), brachydactyly and clinodactyly of the little fingers, “sandal-shaped” gap on the feet are more common with trisomy 21 (Down syndrome), camptodactyly, flexor position of the hands are characteristic of trisomy 18 (Edwards syndrome), syndactyly - for triplodia (Fig. 53–57) [17].

Rice. 52.

Syndactyly in Apert syndrome.

Rice. 53.

Polydactyly on the foot due to trisomy 13.

Rice. 54.

Clinodactyly of the little finger due to trisomy 21.

Rice. 55.

Sandal foot with trisomy 21.

Rice. 56.

Flexor position of the hands with trisomy 18.

Rice. 57.

Syndactyly with triploidy.

When diagnosing non-chromosomal syndromes, significant differences in the frequency of finger pathology in groups with different types of inheritance have been described. Thus, oligodactyly (including monodactyly) (Fig. 58), syndactyly, ectrodactyly (Fig. 59, 60) occur significantly more often in hereditary monogenic syndromes with AD type of inheritance. Polydactyly (Fig. 61) and camptodactyly were significantly more common in hereditary monogenic syndromes with the AR type of inheritance [13].

Rice. 58.

Oligodactyly.

Rice. 59.

Ectrodactyly, EEC syndrome.

Rice. 60.

Ectrodactyly with EEC syndrome, 13 weeks of pregnancy.

Rice. 61.

Postaxial polydactyly in short rib-polydactyly syndrome.

A fairly large number of articles are devoted to prenatal ultrasound identification of syndromes and associations associated with skeletal pathology. Skeletal pathology includes both malformations of long tubular bones and defects of the chest and spine in the fetus. Moreover, within one clinical case, a simultaneous combination of several types of congenital malformation, classified as skeletal pathology, can be observed [13]. Hypoplasia and deformation of the chest are clinical signs of a number of hereditary monogenic syndromes: a crab-shaped chest with deformation and asymmetry of the ribs is observed in Jarcho-Levin syndrome (Fig. 62, 63), hypoplasia of the chest and parallel ribs are found in the “short rib-polydactyly” syndromes "and Genet's syndrome (Fig. 64); with trisomy 21, hypoplasia of the XII pair of ribs is described (Fig. 65). The pathology of the spine includes its deformation (scoliosis), the absence of part of the spine in caudal regression syndrome, and the presence of hemivertebrae (Fig. 66).

Rice. 62.

Jarcho-Levin syndrome, skeletal examination regimen.

Rice. 63.

Jarcho-Levin syndrome, deformation of the chest and spine.

Rice. 64.

Genet's syndrome, parallel ribs and thoracic hypoplasia.

Rice. 65.

Hypoplasia of the XII pair of ribs, trisomy 21.

Rice. 66.

Severe scoliosis and diplomyelia of the spinal cord.

Rice. 67.

Caudal regression syndrome, absence of the sacral spine.

Rice. 68.

Caudal regression syndrome, contracted iliac bones.

For a long time, caudal regression syndrome (CRS) and sirenomelia were called synonyms and were associated with the teratogenic effect of elevated glucose levels in diabetes mellitus in a pregnant woman. However, the accumulation of reports in the literature on the diagnosis of this syndrome and our own experience have shown that in the vast majority of cases, TBS is diagnosed in fetuses whose mothers had normal blood glucose levels both before and during pregnancy. Also, according to most modern experts, SCR and sirenomelia are two anomalies with different etiologies and pathogenesis. TFR is characterized by the absence of part of the spine and/or sacrum of the fetus, and its prenatal diagnosis is based on the detection of the absence of a fragment of the fetal spinal column. Assessing the location of the iliac bones of the pelvis allows us to visualize their “shield-like” reduction, characteristic of SCR (Fig. 67, 68).

It is important to assess the motor activity of the fetal legs, since the detection of a fixed position of the hips (“frog leg position”) due to the presence of popliteal pterygiums is a characteristic sign of TFR (Fig. 69, 70) [18].

Rice. 69.

Popliteal pterygium in caudal regression syndrome in 2D mode.

Rice. 70.

Popliteal pterygium in caudal regression syndrome in 3D mode.

Sirenomelia is a congenital pathology characterized by fusion of the lower extremities in combination with pathology of the kidneys (in the vast majority of cases, sirenomelia is combined with bilateral renal agenesis), spine and bladder (Fig. 71) [19].

With prenatal identification of a hereditary syndrome or associations, the pathology of the anterior abdominal wall can be represented by various anomalies: gastroschisis (Fig. 72, 73), omphalocele, extensive defects of the abdominal wall, up to its complete absence with eventration of internal organs with anomaly of the body stem, the defining moment in the diagnosis of which is an extremely short umbilical cord in the fetus (Fig. 74).

As noted earlier, a special role in assessing the fetal phenotype during “genetic” ultrasound is the study of the facial structures of the fetus: the structure of the eyes, ears, nose, upper and lower jaw, visualization of the structures of the hard palate, and the profile of the fetus.

The most important marker of genetic syndromes, both chromosomal and non-chromosomal origin, is micrognathia - an anomaly of the development of the lower jaw, characterized by its hypoplasia. A diagnostic criterion has been described that makes it possible to establish this diagnosis as early as 11–14 weeks of pregnancy [20]. One of the largest works in the world on the study of this marker belongs to D. Paladini et al., who described more than 50 cases of micrognathia in combination with both chromosomal and non-chromosomal syndromes and associations [21]. Agnathia is an extreme degree of micrognathia, when the lower jaw is absent or severely hypoplastic (Fig. 75, 76). This defect is part of the agnathia-holoprosencephaly (otocephaly) syndrome with the AR type of inheritance [22]. This is an extremely rare anomaly, in which not only the lower jaw is underdeveloped, but also the location of the auricles is changed, which can be combined and are most often located on the fetal neck [23].

Hypoplasia of the lower jaw in various non-chromosomal syndromes can occur only as congenital malformations of the face, for example in Pierre Robin syndrome (Fig. 77–79), Treacher Collins (Francheschetti) syndrome (Fig. 80, 81), and can also be combined with musculoskeletal anomalies or systemic skeletal dysplasias, such as achondrogenesis, atelosteogenesis, campomelic dysplasia (Fig. 82), diastrophic dysplasia (Fig. 83, 84), multiple pterygium syndrome, Pena-Shokeir syndrome, fetal akinesia syndromes (Fig. 85, 86), Nager's acrofacial dysostosis (Fig. 87–91), etc. [24].

Rice. 71.

Sirenomelia.

Rice. 72.

Gastroschisis, Realistic Vue mode.

Rice. 73.

Gastroschisis, mode of superficial reconstruction. Intestinal loops in the amniotic fluid are clearly visible.

Rice. 74.

Omphalocele and sharply shortened umbilical cord with anomaly of the body stem.

Rice. 75.

Agnathia-otocephaly, 2D mode.

Rice. 76.

Agnathia-otocephaly, 3D mode.

Rice. 77.

Pierre Robin syndrome, micrognathia.

Rice. 78.

Cleft palate in Pierre Robin syndrome.

Rice. 79.

Micrognathia in Pierre Robin syndrome.

Rice. 80.

Profile of a fetus with Treacher Collins (Franceschetti) syndrome.

Rice. 81.

Triangular face, absence of zygomatic bones in Treacher Collins syndrome (Franceschetti).

Rice. 82.

Micrognathia in campomelic dysplasia.

Rice. 83.

Micrognathia in diastrophic dysplasia syndrome.

Rice. 84.

Micrognathia in diastrophic dysplasia syndrome.

Rice. 85.

Flexor position of the fingers in fetal akinesia syndrome.

Rice. 86.

Micrognathia in fetal akinesia syndrome.

Rice. 87.

Micrognathia in Nager syndrome.

Rice. 88.

Radial clubhand and oligodactyly in Nager syndrome.

Rice. 89.

Newborn hand with Nager syndrome.

Rice. 90.

Postnatal phenotype in Nager syndrome.

Rice. 91.

Hand with Nager syndrome.

The overwhelming majority of non-chromosomal syndromes are combined with other changes in the facial skull. The most common are hypoplasia of the lower or middle third of the face (Fig. 92) with Binder syndrome, a flat face with Noonan syndrome (Fig. 93), a sunken bridge of the nose, an overhanging forehead, and pathological forms of the structure of the nose and ears. And if during routine genetic testing in the postnatal period the description of these changes does not cause difficulties, then their assessment in the prenatal period using echography is debatable due to the lack of clear assessment criteria, i.e. subjectivity in the assessment of certain echo signs.

A sufficient number of publications in the literature are devoted to such a pathological condition as amniotic band syndrome. Passing through the amniotic cavity, the cords can connect separate sections of the placenta, umbilical cord and fetal body with each other [25]. They can lead to a variety of fetal developmental abnormalities. The most common findings are ring constrictions on one or more limbs, amputation of the phalanges of the fingers or the entire limb (Fig. 94). With amniotic band syndrome, craniofascial anomalies can be diagnosed in the fetus: cleft lip and palate, nasal deformities, acrania (Fig. 95), anophthalmia, microphthalmia [26].

The use of volumetric echography makes it possible to better visualize the surface of the fetal body (forehead, face, chest, genital area, back of the head and back, distal limbs) [27]. An important role in studying the fetal phenotype for diagnosing a hereditary syndrome is played by the diagnosis of skin appendages or skin papillomas. Most often they are visualized on the ears or on the face of the fetus and can be combined with various syndromes and associations, for example, with Goldenhar syndrome [28] (Fig. 96, 97).

In many cases, it is the use of volumetric ultrasound that is fundamental in diagnosing the hereditary syndrome. The use of modern ultrasound technologies in practice facilitates echovisualization of many conditions and defects that are difficult to diagnose in 2D mode, such as cleft palates, skin conditions, superficial formations [29, 30, 31], tumors (Fig. 98, 99) , pathology of the genital organs: various forms of hypospadias (Fig. 100–102), inversion of the penis (Fig. 103, 104).

Rice. 92.

Hypoplasia of the middle third of the face in Binder syndrome.

Rice. 93.

Flat face with Noonan syndrome.

Rice. 94.

Amniotic band syndrome.

Rice. 95.

Acrania and amniotic band syndrome.

Rice. 96.

Cutaneous preauricular papillomas in Goldenhar syndrome.

Rice. 97.

Goldenhar syndrome.

Rice. 98.

Epulis.

Rice. 99.

Epulis is a newborn phenotype.

Rice. 100.

Hypospadias, Crystal Vue mode.

Rice. 101.

Hypospadias, superficial reconstruction mode.

Rice. 102.

Hypospadias.

Rice. 103.

Pathology of the genital organs.

Rice. 104.

Penile inversion.

Rice. 105.

DiGeorge syndrome, an abnormal form - “fish” mouth.

Rice. 106.

Fetal phenotype in DiGeorge syndrome.

Microdeletion syndromes play a special role in prenatal syndromology. Formally, microdeletions are classified as chromosomal abnormalities because they change the number of genes, not their structure, and, in addition, large areas can be visible in cytogenetic studies, but from a practical point of view they are inherited as autosomal dominant monogenic diseases [3]. One of the most common microdeletion syndromes is DiGeorge syndrome (Fig. 105–107), in which congenital heart defects and facial structural features will often be observed - a snub nose, a long filter, micrognathia, a “fish” mouth - a triangular mouth shape.

So, the optimal way to study the fetal phenotype in detail, i.e. Carrying out prenatal “genetic” ultrasound makes it possible to diagnose many hereditary syndromes. Identification of many hereditary syndromes and associations is a diagnosis based on recognition of the “characteristic face of the syndrome,” which in most cases is formed by a variety of craniofacial dysmorphia, pathology of the skeleton, anterior abdominal wall and fetal fingers [13, 32]. Sometimes the smallest features in the study of the phenotype become the key to the correct diagnosis, for example, the diagnosis of macroglossia in Wiedemann-Beckwith syndrome (Fig. 108, 109), a bifurcated tip of the nose in frontonasal dysplasia syndrome (Fig. 110), or coloboma (splitting) of the nostril in CHARGE ( Coloboma, Heart defect, Atresia choanae, Retarded growth, Genital hypoplasia, Ear anomalies) associations (Fig. 111, 112).

In the actively developing prenatal syndromology, the leading place today is given to the safe, accessible and highly informative ultrasound method in confirming the prenatal diagnosis using various methods: laboratory, radiation, pathological examination, analysis of phenotype and pedigree.

Ultrasound is the first stage of visual diagnosis of structural pathology in the fetus. When identifying pathological ultrasound signs in the fetus, one should, first of all, think about the syndromic nature of the pathology due to its enormous clinical significance. In this case, accurate ultrasound verification of the entire spectrum of congenital malformations and all stigmata of disembryogenesis, so-called microanomalies or minor developmental anomalies, that are possible for visualization are extremely important.

Rice. 107.

Right aortic arch with DiGeorge syndrome.

Rice. 108.

Macroglossia in Wiedemann–Beckwith syndrome.

Rice. 109.

Macroglossia in Wiedemann–Beckwith syndrome.

Rice. 110.

Bifurcated nasal tip due to frontonasal dysplasia.

Rice. 111.

Coloboma (splitting) of the nostril in CHARGE association.

Rice. 112.

Coloboma of the nostrils in CHARGE association.

Prenatal detection of ultrasound signs of multiple birth defects in order to attempt to diagnose a hereditary syndrome in the prenatal period is necessary for the formation of the correct tactics for pregnancy management, the formation of specific measures for the prevention of this disease in the family in the future, which will be determined by the etiology of the disease and its type of inheritance.

The ultrasound research method is the main, informative, high-resolution method of prenatal diagnosis when using a clinical-syndromic approach in the case of diagnosing MVPR, and the archive of ultrasound images is the basis for retrospective verification of the diagnosis.

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How does an anomaly form?

The finally formed defect is found in the fetus for a period of 5–8 weeks. In the fourth week, the lateral folds of the embryo's body move towards the abdomen, merging along the midline. This is how the anterior abdominal wall appears.

With incomplete fusion, a gap is formed into which intestinal loops protrude. At the same time, the formation of other defects is often observed: intestinal atresia (fusion), congenital shortening, lack of division into thin and thick sections, weak fixation, insufficient rotation. All children have an abnormally attached small intestinal mesentery.

Gastroschisis is a severe congenital pathology. Pathogenesis of the disease

The formation of this defect occurs during the first 8 weeks of gestation. During this period, two longitudinal folds begin to grow, from which muscles subsequently develop in the “back - abdomen” direction. Incomplete closure of the folds leads to the formation of a defect in this place.

Due to incomplete fusion, the abdominal organs eventrate through the abdominal wall, and the intestines usually protrude through the rectus abdominis muscle, located to the right of the navel.

Signs of gastroschisis

In pediatrics, a specialty has been identified - neonatology. Neonatologists are available in all major perinatal centers. Their duty is to provide an initial examination of the newborn for diseases and defects acquired in utero.

Since modern diagnostics require pregnant women to undergo ultrasound twice, the birth of a child with gastroschisis is expected

But if the woman was not observed, relying on her well-being or for other reasons, then the baby with pathological intestinal prolapse will be seen only after birth. Signs of gastroschisis are divided into two forms: simple and complicated.

Symptoms of intestinal diseases

Simple is the most common (70–91% of all cases). The anomaly is isolated and consists of a round or oval defect of the anterior abdominal wall.

The size ranges from 2 to 5 cm. Intestinal loops exit through it. The most typical location of the hole is at the level of the navel, on the right. The intestinal loops are swollen, may be connected by adhesions, and are swollen.

Complicated one manifests itself simultaneously with other defects and diseases. Volvulus of the transverse colon, areas of wall necrosis and narrowing, diverticula, intestinal perforation, and cryptorchidism are often detected. At the same time, the mesentery, part of the bladder, testicles in boys, and the uterus in girls emerge into the opening.

Both forms can be accompanied by an impaired ratio of the volume of the peritoneal cavity and the size of the organs. The indicator is called “viscero-abdominal disproportion”. It distinguishes 3 degrees of severity of the anomaly:

• I - mild,
• II - moderate,
• III - pronounced.

With gastroschisis, there is increased intra-abdominal pressure (hypertension).

What to do

Modern medicine has learned to treat such children, but in some cases it is powerless. In order not to give birth to a sick child, you need to carefully check the health status of both partners before the planned conception.

The absence of obvious manifestations of STDs should not be taken as an absolute indicator of health. Many sexually transmitted infections, such as chlamydia or trichomoniasis, are asymptomatic. You may not even know about the presence of such ailments until you have to face their irreparable consequences.

If a sexually transmitted disease is discovered, it should be treated by a good venereologist, and only then think about conceiving a child. This approach will help you reduce the risk of having a baby with such a serious pathology as gastroschisis.

Detection methods

The main diagnostic method is ultrasound examination of the fetus during pregnancy. Incompetence of the anterior abdominal wall is detected in the tenth week after conception (gestation).

The goal of early prenatal diagnosis is to identify the defect and prepare the woman for delivery in a specialized center, where the newborn will simultaneously receive the necessary qualified care. The preliminary diagnosis becomes final when changes are confirmed at 13–14 weeks. Before 12 weeks, the defect may heal, and the prolapse may correct itself.

Ultrasound reveals round, thin-walled, non-echogenic structures in the form of tubes; they are located outside the abdominal cavity and do not have membranes

In 60% of pregnant women with suspected gastroschisis, oligohydramnios or polyhydramnios and intrauterine growth retardation are detected. When examining a newborn baby, a characteristic defect of the anterior peritoneal wall with prolapse of intestinal loops is visible.

To exclude other anomalies, the following is carried out:

• echocardiography;
• Ultrasound of the retroperitoneum and abdominal organs;
• neurosonography;
• radiography with contrast.

Diagnostics

The main way to diagnose gastroschisis is ultrasound screening during pregnancy. If the defect is reliably confirmed, the operation should be performed urgently in the first hours after the birth of the child (preoperative preparation lasts from 3 to 12 hours, on average about 6 hours).

Fetal gastroschisis on ultrasound

What complications are possible in a child with gastroschisis?

It is almost impossible to separate complications from accompanying anomalies, because they form in the prenatal period and have the same causes. Gastroschisis is the first to be detected, but this does not mean that it is “to blame” for the development of other anomalies. However, complications include:

• cryptorchidism in boys (31% of cases) - undescended testicles into the scrotum;
• intestinal atresia (up to 25% of cases);
• the formation of Meckel's diverticulum (almost 16%) is a congenital saccular structure in the ileum that appears when the embryonic vitelline duct is not closed.

16% of children have congenital heart defects such as atrial or ventricular septal defects, triad and tetralogy of Fallot. More rare anomalies:

• 1.7% of cases of gastroschisis occur in combination with Down syndrome;
• 1.6% - have congenital amyoplasia (arthrogryposis) - underdevelopment of muscles, joints, and spinal cord;
• 1.5% - dwarfism;
• 1.5% - fusion (atresia) of the biliary tract.

The most dangerous complication is intrauterine fetal death. Most often it is diagnosed in the last trimester of pregnancy. The exact reason has not been established. The most probable are intrauterine intestinal volvulus, cessation of fetoplacental blood flow due to compression of the umbilical cord by intestinal loops, intestinal rupture with release of meconium into the abdominal cavity and peritonitis.

This is facilitated by low or polyhydramnios, other pathologies of pregnancy

10% of children born in the last trimester of pregnancy are stillborn. The mortality rate among newborns in African countries reaches 100% (in some – 57%), in Europe and the USA – it ranges from 4 to 17%.

Disorders with similar symptoms

The clinical manifestations of the following disorders may be similar to those of gastroschisis. Comparisons can be useful for differential diagnosis:

Omphalocele (umbilical cord hernia, umbilical hernia, embryonic hernia) is a protrusion of the internal organs of the abdominal cavity due to a defect in the umbilical ring. The protrusion may be very small with a few loops of intestine protruding, or it may contain the entire intestine, liver, and stomach. Unlike gastroschisis, the protruding organs are covered by a membranous sac. It has been suggested that omphalocele and gastroschisis may be the same disorder, but the omphalocele may rupture during fetal growth, thus engulfing the membranous sac. This theory has not been proven to date.

How is a woman with an established diagnosis monitored?

If the diagnosis is established, then control studies are repeated every 2 weeks. A woman in the second trimester is observed as in a normal physiological pregnancy. In the future, it requires more attention, since the anomaly threatens premature birth, prematurity and impaired fetal development.

When examining a pregnant woman, an elevated level of alpha-fetoprotein is determined. If the case is not the first in the family, then genetic consultation with testing is necessary. The technique will require amniocentesis - to obtain amniotic fluid for analysis, a puncture of the amniotic membrane is performed.

Parents are warned about the risks of such intervention. Usually the patient is hospitalized in the pathology department long before birth. Despite the well-known defect, they try to bring the fetus to a term that ensures sufficient formation of lung tissue.

During observation, the dilation of intestinal loops is monitored. This sign indicates intestinal infection and the likelihood of peritonitis.

Obstetricians and gynecologists have not come to a consensus regarding delivery. Some insist on a Caesarean section, while others consider independent childbirth a more physiological process. They indicate that the newborn's intestines are not damaged due to the fibrin film coating.

Treatment of gastroschisis

A baby born with gastroschisis requires surgery for health reasons. It consists of plastic surgery of the anterior abdominal wall. The optimal period is considered to be the first 3–4 hours. Practice shows that every 2 hours of delay doubles the risk of death.

Photo of a newborn in an incubator, devices for the prevention of bedsores and heating

The newborn is immediately placed in an incubator heated to 37 degrees with high humidity. The prolapsed organs are covered with a sterile bag and a damp cloth. A nasogastric tube is placed in the stomach to prevent pressure from increasing in it. Nutrition is provided only with solutions through a permanent venous catheter.

Antibiotics are prescribed to prevent sepsis. The surgical technique consists of primary and delayed plastic surgery. The primary method is carried out by immediately immersing the intestine into the abdominal cavity and suturing the peritoneal opening or using the child’s own tissue.

The disadvantage is the possible rapid increase in intra-abdominal pressure with compression of the inferior vena cava, vascular thrombosis, ischemia and rupture of the intestine, necrosis of loops, acute failure of breathing, heart and kidneys.

Delayed plastic surgery involves the formation of an outer bowel pouch from special materials. For this purpose, biological implants are used (xenopericardium, dura mater, umbilical cord remnants) or synthetic ones made from propylene, lavsan, polyvinyl chloride.

There are ready-made bags with an elastic elastic ring, which are specially made for temporary replacement of the intestinal cavity. They are hung on a rack and lowered gradually, causing the dropped loops to be slowly inserted into their place. Then the peritoneal wall defect is sutured.

The remarkable pediatric surgeon D.A. Morozov in Saratov used an ordinary rubber surgical glove. It was sewn around the edges of the hole. Using tension, he was able to achieve a reduction in the intestine, followed by suturing the hole.

For his work to save a child’s life, the doctor was awarded the National Vocation Award in 2004 and named “Best Doctor of the Year.” When combined with intestinal atresia, two colostomies are placed on the abdominal wall from the small and large intestines. Then plastic surgery is performed.

After plastic surgery, the child needs care and is gradually transferred to enteral nutrition

What consequences await the child?

Possible complications after surgery:

• adhesive intestinal obstruction;
• thrombosis of mesenteric vessels with intestinal necrosis;
• addition of infection with the development of enterocolitis, peritonitis, sepsis.

Due to prolonged parenteral nutrition, the functions of the liver and bile ducts are disrupted, and obstructive jaundice develops.

Treatment of a simple form has a more favorable outcome and complete recovery. 1/3 of children aged one and a half to two years still have signs of delayed physical and mental development, a lag compared to their peers. There is a disturbance in the motility of the gastrointestinal tract, functional deviations in the form of constipation and diarrhea.

Gastroschisis: reviews from parents after surgery

Gastroschisis in children
Gastroschisis is a terrible diagnosis for many expectant parents. But now medicine does not stand still, and almost all pathologies of fetuses and infants can be easily treated. Read reviews from other parents after their babies had surgery. You will realize that you are not alone with your problems, and maybe this will inspire you.

Tatyana, 29 years old

When I became pregnant, there was no limit to my joy. But it didn't last long. At week 17, an ultrasound scan revealed a diagnosis of gastroschisis. There were so many experiences, I re-read a lot of medical and scientific literature. But I understood one thing: I will give birth, despite the fact that everywhere in the recommendations there is termination of pregnancy. The only thing is that the doctors said that they would do a caesarean section during childbirth, so as not to harm the intestines, which are already located outside. The operation was performed 10 days after birth. Now my daughter is already 5 years old. It develops along with its peers, but there are disturbances in the functioning of the intestines - sometimes constipation, sometimes stool 6-8 times a day. In kindergarten, teachers always notice this and tell me. Otherwise, she is the same as all the other kids.

Angela, 40 years old

My daughter also had gastroschisis, it was very difficult for everyone to go through it. Now everything is fine, she is already 18 years old, finishing 11th grade. At that time I was very worried. According to an ultrasound at week 20, she was slightly behind in weight compared to other children, but by the time of birth she was already 3 kg. Therefore, all that remained was to undergo surgery and rehabilitation. These are nothing compared to the joy when your baby goes to kindergarten or first grade. Now, after the passage of time, I can say for sure that I need to give birth and survive this moment. Everything will be fine!

Elena, 25 years old

The diagnosis of gastroschisis was made at 25 weeks. Doctors said that it was advisable to terminate the pregnancy. But I had no doubt that I would give birth no matter what. After the birth, the child was immediately placed in intensive care. There was observation for two weeks, then surgery. Everything went well. At first they introduced water a little at a time, then they started feeding, starting with 2 ml. Such a vice can be survived, you just need to be patient. Be sure to register your child's disability. A lot of money is needed for his rehabilitation.

Forecast

If a woman is in a specialized department, then the newborn is provided with a 90% chance of timely specialized care. The prognosis for survival of a child with gastroschisis is favorable. There remains a risk of complications. It depends on the degree of intestinal damage, other anomalies, and the response to the therapy.

An uncertain prognosis for women in labor who have not registered and are avoiding regular examinations. The birth of a child with an anomaly in unprepared conditions delays the timing of specialized care.

Correction allows you to stabilize the condition at an older age

Incubation period of STDs

Every year the problem of STDs becomes more acute, the prevalence of urogenital infections among men and women goes beyond all limits. Most patients turn to doctors quite late, because, even knowing about the possibility of infection, they wait until persistent signs appear. But if you had unprotected sexual contact with a partner who is a carrier of one or more STI infections, alas, a miracle will not happen - some time will pass and the disease will show itself “in all its glory.”

Often, quite a long time passes from the moment of direct infection to the appearance of the first symptoms of the disease. This period, when a person is already infected, but the disease does not yet manifest itself in any way, is called incubation. It varies depending on the infection and, in addition, can vary to some extent depending on the individual characteristics of the patient.

How to prevent pathology?

Measures to prevent gastroschisis include strict adherence to the advice of an obstetrician-gynecologist, starting with pregnancy planning:

• nutritious nutrition for the expectant mother;
• giving up bad habits long before conception;
• timely visit to the doctor and check of tests;
• performing an ultrasound to monitor the fetus.

If there is information about a hereditary predisposition, it is better to undergo genetic counseling for both parents before conception. At the request of the mother and for medical reasons, termination of pregnancy is possible up to 22 weeks. Pediatricians monitor the child until he grows up. Helps you grow and become healthy. Parents should follow the advice. In most cases, cure is possible.

Risk factors

The likelihood of developing gastroschisis largely depends on the woman’s behavior during pregnancy. Therefore, expectant mothers need to be very careful during this period if they want to give birth to a healthy baby.

Risk factors include:

• young age of the expectant mother. Her young body is not yet able to provide the fetus with all the necessary elements for its growth and development;
• smoking and drinking alcohol during pregnancy;
• uncontrolled use of medications during pregnancy;
• intrauterine infections.