Prenatal Diagnosis of Fetal Ventral Wall Defects: Associated Anomalies and Chromosomal Aberrations
Eldessouky, S., Abdella, R., Gaafar, H., Fouad, M., Sobh, S., Eid, M., Abdalla, E., Ebrashy, A., Zolfokar, D. (2023). Prenatal Diagnosis of Fetal Ventral Wall Defects: Associated Anomalies and Chromosomal Aberrations. EKB Journal Management System, 13(4), 395-404. doi: 10.21608/ebwhj.2023.43351.1111
Sara Hisham Eldessouky; Rana Mohamed Abdella; Hassan Mostafa Gaafar; Mona Fouad; Sherin Mohamed Sobh; Maha M. Eid; Ebtesam Mohamed Abdalla; Alaa Na geeb Ebrashy; Dalia Samir Zolfokar. "Prenatal Diagnosis of Fetal Ventral Wall Defects: Associated Anomalies and Chromosomal Aberrations". EKB Journal Management System, 13, 4, 2023, 395-404. doi: 10.21608/ebwhj.2023.43351.1111
Eldessouky, S., Abdella, R., Gaafar, H., Fouad, M., Sobh, S., Eid, M., Abdalla, E., Ebrashy, A., Zolfokar, D. (2023). 'Prenatal Diagnosis of Fetal Ventral Wall Defects: Associated Anomalies and Chromosomal Aberrations', EKB Journal Management System, 13(4), pp. 395-404. doi: 10.21608/ebwhj.2023.43351.1111
Eldessouky, S., Abdella, R., Gaafar, H., Fouad, M., Sobh, S., Eid, M., Abdalla, E., Ebrashy, A., Zolfokar, D. Prenatal Diagnosis of Fetal Ventral Wall Defects: Associated Anomalies and Chromosomal Aberrations. EKB Journal Management System, 2023; 13(4): 395-404. doi: 10.21608/ebwhj.2023.43351.1111

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

Evidence Based Women's Health Journal
Volume 13, Issue 4, November 2023, Page 395-404  XML PDF (831.89 K)
Document Type: Original Article
DOI: 10.21608/ebwhj.2023.43351.1111
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Authors
Sara Hisham Eldessouky email orcid 1; Rana Mohamed Abdella2; Hassan Mostafa Gaafar2; Mona Fouad2; Sherin Mohamed Sobh2; Maha M. Eid3; Ebtesam Mohamed Abdalla4; Alaa Na geeb Ebrashy2; Dalia Samir Zolfokar2
1Prenatal Diagnosis and fetal medicine department, Human Genetics Division, National Research Centre
2Fetal Medicine Unit, Cairo University, Cairo, Egypt
3Department of Human Cytogenetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
4Department 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.
Keywords
Associated anomalies; chromosomal aberrations; prenatal diagnosis; ventral wall defects
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