Prenatal Diagnosis of Fetal Ventral Wall Defects: Associated Anomalies and Chromosomal Aberrations

Document Type : Original Article

Authors

1 Prenatal Diagnosis and fetal medicine department, Human Genetics Division, National Research Centre

2 Fetal Medicine Unit, Cairo University, Cairo, Egypt

3 Department of Human Cytogenetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

4 Department of Human Genetics, Alexandria University, Egypt

Abstract

Objective: To describe the prenatal findings, associated anomalies, chromosomal abnormalities of fetuses with ventral wall defects (VWDs).
Methods: Detailed fetal anomaly scan, postnatal assessment, and chromosomal analysis were performed in 200 fetuses with VWDs.
Results: The omphalocele subtype was the most frequently encountered with 121 cases (60%), among them Pentalogy of Cantrell (POC) and OEIS complex (omphalocele, exstrophy of bladder, imperforate anus, spinal defects) were presented in 6 cases and 5 cases, respectively. The second most common variety was gastroschisis in 63 cases (31.5%). Additionally, 12 fetuses were found to have body stalk anomaly, while ectopia cordis and bladder exstrophy each were detected in 2 fetuses. Abnormal karyotype was found in 93 cases (49.4 %); the most frequently was trisomy 18(64.5%) followed by trisomy 13 (22.5%), trisomy 21(5.37%) and 45,X (4.3%). One case of POC had ring chromosome 13 karyotyping, one case with ectopia cordis had 45,X and a case of body stalk anomaly with sacrocooygeal teratoma was associated with monosmy 21. Major structural anomalies were detected in 104 cases (86%) with omphalocele and 22 cases (34.9%) with gastroschisis.
Conclusion: Our study highlights the clinical and genetic heterogeneity of VWD especially the severe forms.

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