Đánh giá hiệu quả của SNP Array để phát hiện các bất thường di truyền ở thai chậm phát triển trong tử cung=The effectiveness of SNP Array in detecting genetic abnormalities associated with intrauterine growth restriction

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Tác giả: Thị Ngọc Lan Hoàng, Phương Tú Nguyễn, Danh Cường Trần

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Nghiên cứu y học (Đại học Y Hà Nội), 2024

Mô tả vật lý: tr.126-134

Bộ sưu tập: Metadata

ID: 244710

Thêm vào giỏ

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.Thai chậm phát triển trong tử cung là một bệnh lý sản khoa phức tạp và khá phổ biến, hậu quả để lại nặng nề nếu có kèm theo các bất thường về di truyền. Việc phát hiện sớm tình trạng chậm phát triển và xác định các bất thường di truyền kèm theo sẽ giúp ích rất nhiều trong quá trình theo dõi và điều trị sau này. Nghiên cứu của chúng tôi được thực hiện tại Bệnh viện Phụ sản Trung ương từ 2021 - 2023 nhằm xác định và tìm kiếm những nguyên nhân về di truyền gây ra tình trạng chậm phát triển ở thai. Nghiên cứu được tiến hành theo phương pháp mô tả hồi cứu loạt trường hợp được chẩn đoán chậm phát triển thông qua siêu âm và được tư vấn chỉ định chọc ối làm xét nghiệm di truyền để tìm kiếm các bất thường. Kết quả nghiên cứu cho thấy có 153 trường hợp thai chậm phát triển, tuổi thai trung bình 28,75 ± 5,48 tuần, 46% trường hợp được chẩn đoán chậm phát triển trước 29 tuần, 51% thực hiện chọc ối trong đó có 35,89% có bất thường di truyền, tỷ lệ bất thường di truyền ở 153 trường hợp chậm phát triển trong nghiên cứu là 18,3% và xét nghiệm SNP array tìm ra thêm 18 trường hợp có bất thường mà NST đồ bỏ sót (64,28%). Nghiên cứu cho thấy xét nghiệm SNP array thực sự đem lại hiệu quả trong việc tìm kiếm và xác định các bất thường di truyền tiềm ẩn ở thai chậm phát triển trong tử cung và nên được khuyến khích thực hiện cho các trường hợp thai chậm phát triển có yếu tố nguy cơ hay có bất thường về hình thái trên siêu âm.

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