Kết quả sinh thiết gai rau (CVS) ở các trường hợp mang đột biến đơn gen tại Bệnh viện Phụ sản Hà Nội từ năm 2022–2024

The global burden of congenital anomalies and genetic disorders necessitates advanced prenatal diagnostic techniques, particularly in developing nations like Vietnam. Early and accurate identification of inherited single-gene disorders is crucial for appropriate clinical management and parental counseling. Chorionic Villus Sampling (CVS) stands as a pivotal invasive prenatal diagnostic method for detecting such conditions. This study aims to describe the outcomes of CVS in pregnancies diagnosed with single-gene mutations at Hanoi Obstetrics and Gynecology Hospital between 2022 and 2024, highlighting its effectiveness in facilitating timely intervention and improving reproductive health outcomes.

Obstetricians, gynecologists, genetic counselors, prenatal diagnosis specialists, and public health researchers.

This retrospective descriptive cross-sectional study investigated the outcomes of chorionic villus sampling (CVS) in 56 pregnant women presenting with suspected pathological single-gene genetic abnormalities at Hanoi Obstetrics and Gynecology Hospital from 2022 to 2024. The cohort included 53 cases where one or both partners were known carriers of pathogenic genes, and 3 cases where genetic anomalies were suspected based on ultrasound findings without prior carrier identification. The majority of pregnant women were aged 20-34 years (89%), and CVS procedures were primarily performed between 11 and 14 weeks of gestation, with peak activity at 12 and 13 weeks. The study revealed a high prevalence of thalassemia-related pathogenic genotypes, alongside other less common single-gene abnormalities such as TAFAZZIN, TMEM67, FGFR3, COL7A1, ATP7B, IGHMBP2, SOS1, and SUMF1. A significant outcome was that 14 cases were indicated for pregnancy termination due to the presence of confirmed pathogenic genotypes, enabling early and informed parental decision-making. The findings underscore the value of CVS as an invasive prenatal diagnostic technique for the early detection of inherited single-gene disorders during the first trimester (11-14 weeks). This early diagnosis is crucial for providing timely genetic counseling, minimizing emotional distress for families, and facilitating management strategies. While acknowledging potential risks of invasive procedures, no significant complications were reported in this study, further supporting the safety and efficacy of CVS in a Vietnamese clinical setting. The research highlights the need for continued advancements in prenatal screening and diagnostic capabilities to reduce the burden of congenital anomalies.