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SAS Journal of Medicine | Volume-11 | Issue-07
Antenatal Diagnosis of Trisomy 13: A Case Report
Montacer Hafsi, Houssem Ragmoun, Eya Kristou, Asma Zouaghi, Elaa Sassi, Sarra Rihani, Sawssen Fenni, Meriem Bezzine, Amina Abaab
Published: July 2, 2025 |
18
13
Pages: 683-685
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Abstract
Introduction: Trisomy 13, a severe chromosomal anomaly with an incidence of 1/5000–1/20,000 live births, is characterized by multiple congenital malformations, including cleft lip and palate, renal anomalies, and polydactyly. Antenatal ultra- sound facilitates early diagnosis, guiding management decisions. Case Presentation: A 38-year-old primigravida’s fetus was diagnosed with tri-somy 13 at 13 weeks via trophoblast biopsy, presenting bilateral cleft lip and palate, right megaureter, bilateral hydronephrosis, hexadactyly, and suspected Dandy- Walker malformation. Medical termination was performed at 20 weeks + 5 days. Results: Comprehensive ultrasound and genetic evaluation confirmed the diagno- sis, supporting informed decision-making for termination due to poor prognosis. Conclusion: This case underscores the critical role of antenatal ultrasound in de-tecting trisomy 13 and the importance of multidisciplinary counseling for complex congenital anomalies.