Kết quả giải trình tự biến thể số lượng bản sao (CNV-seq) ở thai nhi có tăng khoảng sáng sau gáy=Results of copy number variation sequencing (CNV-seq) in fetuses with increased nuchal translucency

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Tác giả: Thị Trang Đào, Thị Quỳnh Đinh, Thị Thanh Huyền Hồ, Minh Trường Hoàng, Hoài Anh Lê, Thế Thắng Lê, Thị Kim Oanh Lương, Văn Cảnh Ngô, Thị Hảo Nguyễn, Xuân Hải Tăng, Anh Tú Trần

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2024

Mô tả vật lý: tr.169-174

Bộ sưu tập: Metadata

ID: 477990

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Đánh giá kết quả giải trình tự biến thể bản sao qua kỹ thuật CNV-seq (Copy Number Variations – sequencing) ở thai nhi có tăng khoảng sáng sau gáy (KSSG). Đối tượng và phương pháp nghiên cứu: Nghiên cứu hồi cứu, mô tả cắt ngang 54 thai nhi có kết quả siêu âm tăng KSSG được tiến hành chọc hút lấy mẫu dịch ối để chẩn đoán trước sinh bằng kỹ thuật CNVseq và lập công thức nhiễm sắc thể (NST) karyotype tại Bệnh viện Sản Nhi Nghệ An. Kết quả: Tỷ lệ phát hiện bất thường NST bằng giải trình tự số lượng bản sao CNV-seq ở thai có tăng KSSG là 29,6% cao hơn so với karyotype phát hiện được 27,8%. KSSG càng tăng, tỉ lệ bất thường tìm thấy trên CNV-seq càng tăng. Trong đó, nhóm KSSG 5,5-6,4 mm có tỉ lệ lệch bội và CNV gây bệnh/có khả năng gây bệnh cao nhất. Nhóm KSSG tăng kèm bất thường cấu trúc hình thái có tỉ lệ bất thường CNV-seq cao hơn nhóm tăng KSSG đơn độc. Kết luận: Kỹ thuật CNVseq nên được khuyến cáo trong thực hiện chẩn đoán trước sinh cho tất cả thai nhi có tăng KSSG nói riêng và có bất thường siêu âm nói chung để tìm thêm các bất thường vi mất đoạn/nhân đoạn NST gây bệnh/có thể gây bệnh.To evaluate the outcomes of copy number variation sequencing (CNV-seq) in fetuses with increased nuchal translucency (NT). Methods: This retrospective, cross-sectional study included 54 fetuses with increased NT detected on ultrasound, who underwent amniotic fluid sampling for prenatal diagnosis using CNVseq and karyotyping at Nghe An Obstetrics and Pediatrics Hospital. Results: The detection rate of chromosomal abnormalities using CNV-seq in fetuses with increased NT was 29.6%, higher than the 27.8% detection rate with karyotyping. The greater the increase in NT, the higher the abnormality detection rate with CNV-seq. The group with NT between 5.5-6.4 mm had the highest rates of aneuploidy and pathogenic/potentially pathogenic CNVs. Fetuses with both increased NT and structural morphological abnormalities had a higher CNVseq abnormality detection rate compared to those with isolated increased NT. Conclusion: CNVseq should be recommended for prenatal diagnosis in all fetuses with increased NT, as well as those with ultrasound abnormalities, to detect additional pathogenic/potentially pathogenic microdeletions/duplications.

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