14. Đánh giá hiệu quả của SNP Array để phát hiện các bất thường di truyền ở thai chậm phát triển trong tử cung

Abstract

Intrauterine growth restriction is a common and complex obstetric syndrome, which could lead to severe complications if it is related to genetic abnormalities. Early diagnosis of fetal growth restriction, as well as understanding their underlying genetic causes can be useful in monitoring and future treatment. Our research was conducted at the National Hospital of Obstetrics and Gynecology, from 2021 to 2023 with the aim to determine the genetic makeup of fetal growth restriction. We utilised the descriptive retrospective research method on the set of intrauterin growth restriction case files diagnosed through ultrasound, and was instructed to perform amniotic test for further chromosomal analysis of abnormalities. Results featured 153 cases of fetal growth restriction, average gestational age 28.75 ± 5.48 weeks, 46% of cases were diagnosed with growth restriction before 29 weeks, 51% of which had amniocentesis performed. 35.89% had genetic abnormalities, the rate of genetic abnormalities in 153 cases of IUGR in this study was 18.3% and the SNP Array test found 18 more cases with abnormalities that were missed by karyotype (64.28%). Research shows that SNP Array testing is effective in finding and identifying potential genetic abnormalities in intrauterine growth restriction and should be recommended in cases of fetal growth restriction with developingrisk factors or with morphological abnormalities on ultrasound.