ĐÁNH GIÁ BẤT THƯỜNG DI TRUYỀN CỦA THAI NHI Ở THAI PHỤ CÓ NGUY CƠ CAO TẠI BỆNH VIỆN SẢN NHI BẮC NINH

Abstract

Genetic abnormalities are one of the main causes of congenital abnormalities in fetuses. Objective: To evaluate abnormal genetic in high-risk pregnant women at Unit for Prenatal and Neonatal Screening and Diagnosis, Bac Ninh Obstetrics and Pediatrics Hospital. Subjects and methods: 51 high-risk pregnant women underwent amniocentesis and genetic analysis at the Prenatal Screening and Diagnosis Center, Bac Ninh Obstetrics and Pediatrics Hospital. Results: 12/51 cases showed abnormal karyotype results (23.5%), and 13/45 cases showed CNV (Copy Number Variant) abnormalities (28.9%). The most common chromosomal aneuploidy was Trisomy 21 with 4/9 cases, accounting for 45%. CNV-Sequencing revealed 8 abnormal CNVs (Copy Number Variants), including deletions/duplications <5Mb in 5/8 cases (62.5%) and deletions/duplications ≥ 5Mb in 3 cases (37.5%). Conclusion: The study successfully evaluated abnormal genetic results in fetuses of high-risk pregnant women at Bac Ninh Obstetrics and Pediatrics Hospital. The research findings contribute to the shared genetic data pool in Vietnam.