KẾT QUẢ CHẨN ĐOÁN TRƯỚC SINH MỘT SỐ BẤT THƯỜNG DI TRUYỀN Ở THAI NHI CÓ DỊ TẬT TIM TẠI BỆNH VIỆN PHỤ SẢN HÀ NỘI

Abstract

Objective: Comments on prenatal diagnosis of fetuses with congenital heart defects on prenatal ultrasound and related genetic abnormalities. Subjects and methods: Descriptive analysis study on 310 patients diagnosed prenatally with congenital heart defects at the Center for Prenatal and Neonatal Screening, Diagnosis - Hanoi Obstetrics and Gynecology Hospital. Results: In 310 cases of congenital heart disease, 10.65% of cases had genetic abnormalities, of which chromosomal numerical abnormalities accounted for 51.52% and chromosomal structural abnormalities accounted for 48.48%. The most common chromosomal numerical abnormalities were trisomy 21, trisomy 18, trisomy 13 and monosomy X. The most common chromosomal structural abnormality was Di George syndrome (deletion of 22q11.2), accounting for 37.5% of chromosomal structural abnormalities Conclusion: The rate of genetic abnormalities in the congenital heart group was 10.65%, of which the most common were Down syndrome and Di George syndrome.