NGHIÊN CỨU CÁC BẤT THƯỜNG SỐ LƯỢNG NHIỄM SẮC THỂ CỦA THAI TẠI BỆNH VIỆN PHỤ SẢN HÀ NỘI GIAI ĐOẠN 2021 - 2024

Abstract

Among chromosome abnormality prenatal diagnosis tests, karyotyping is still the golden standard, however recent development of array-CGH techniques also provided the possibility to early, accurate diagnose for chromosome abnormalities after 48-72 hours with high-resolution. Objective: 1) Describe fetal chromosomal abnormalities diagnosed prenatally at Hanoi Obstetrics and Gynecology Hospital in the period of 2021 - 2024. 2) Evaluate the value of karyotyping and array CGH in detecting chromosome numerical abnormalities. Subject - methodology: Cross-sectional descriptive study of 658 pregnant women who were indicated for amniocentesis for both karyotyping and array CGH tests. Result: The rate of numerical chromosome abnormalities was 8.8% among amniocentesis cases. The distribution rate of numerical chromosome abnormalities was as follows: Down syndrome (43.1%); Edwards syndrome (12.1%); Klinefelter syndrome (8.6%); 47,XXX syndrome (6.9%); Jacobs syndrome (5.2%); patau syndrome (5.2%); Turner syndrome (3.4%) and 13.8% mosaicism. Array-CGH allows for accurate detection of unbalanced structural abnormalities mosaicism rates. Karyotyping has advantages in Robertsonian translocations and sex chromosome mosaicism. Conclusion: Both arrayCGH and karyotyping have high value in diagnosing numerical chromosome abnormalities.