Đánh giá hiệu quả giải trình tự gen thế hệ mới trong phát hiện bất thường di truyền ở thai có bất thường hình thái tại Bệnh viện Đại học Y Hà Nội=Evaluation of the effectiveness of next-generation sequencing for detecting genetic abnormalities in fetuses with morphological anomalies at Hanoi Medical University Hospital

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Tác giả: Thị Trang Đào, Hồng Phúc Đinh, Hữu Đức Anh Nguyễn, Thị Minh Ngọc Nguyễn

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.137-143

Bộ sưu tập: Metadata

ID: 244817

Thêm vào giỏ

Nghiên cứu nhằm đánh giá hiệu quả của giải trình tự gen thế hệ mới (NGS) trong phát hiện bất thường di truyền ở thai nhi có bất thường hình thái. Từ 1/2023 - 12/2023, những thai phụ này được chọc ối để chẩn đoán trước sinh tại Bệnh viện Đại học Y Hà Nội, với dịch ối được phân tích ở các mức độ nhiễm sắc thể, CNV và gen. Trong 64 thai có bất thường hình thái phát hiện qua siêu âm và MRI đã được chọc ối, có 57 trường hợp (89,1%) sử dụng NGS để chẩn đoán. Tỷ lệ khảo sát chỉ ở CNV và cả gen lẫn CNV lần lượt là 20,3% và 68,8%. Phát hiện 4 ca mang bất thường ở CNV dù nhiễm sắc thể bình thường, và trong 44 trường hợp khảo sát cả CNV và gen, có 11 ca phát hiện biến thể gen. Tuy nhiên, vẫn có 1 trường hợp phát hiện bất thường qua lập công thức nhiễm sắc thể nhưng CNV không phát hiện được. Kết quả cho thấy NGS giúp khảo sát tương đối toàn diện các bất thường di truyền, tuy nhiên vẫn cần phối hợp các xét nghiệm để tránh bỏ sót chẩn đoán.The study aims to evaluate the effectiveness of next-generation sequencing (NGS) in detecting genetic abnormalities for fetuses with structural anomaly. From 1/2023 to 12/2023, pregnant women undergoing amniocentesis for prenatal diagnosis at Hanoi Medical University hospital, had amniotic fluid analysis for karyotype, CNV and gene levels. Of the 64 fetuses with structural anomaly, 57 cases (89.1%) utilized NGS for diagnosis. The rates of investigation solely on CNV and both gene and CNV levels were 20.3% and 68.8%, respectively. Four cases were found to have CNV anomalies despite having normal karyotypes, and among the 44 cases that were tested for both CNV and gene levels, 11 were found to have gene mutations. However, one case with an abnormality detected by karyotyping did not show any CNV anomalies. The results indicate that NGS provides a relatively comprehensive screening of genetic anomalies, however, tto avoid missed diagnoses, it is necessary to use a combination of different testing methods.

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