Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam.
Nhi Yen NguyenY-Thanh LuDuy-Anh NguyenCanh-Chuong NguyenLinh Thuy DinhMinh-Thu Thi TranDanh-Cuong TranLan-Anh Thi LuongKim-Phuong DoanVu Quoc Huy NguyenThi Minh Thi HaLinh-Giang Thi TruongNhat-Thang TranPhuong Thi-Mai CaoVy Thi-Nhat TranThu Huong Nhut TrinhQuang Thanh LeVan Thong NguyenDiem-Tuyet Thi HoangSon Ta VoMy-Nhi Ba NguyenChi-Thuong BuiSon-Tra Thi TranDuc-Tam LamHong-Thinh LeMy-Ngoc Ba NguyenViet-Thang HoMinh-Trung NguyenPhuoc-Loc DoanKim-Van Thi TranHuyen-Trang Thi TranUyen Vu TranAn My DinhThanh-Thanh Thi NguyenThanh-Thuy Thi DoDinh-Kiet TruongMinh-Duy PhanHoai-Nghia NguyenHung-Sang TangHoa GiangPublished in: Personalized medicine (2023)
Background: Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions. Methods: NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm de novo variants. Diagnostic tests confirmed NIPT-detected cases. Results: Among 93 pregnancies with ultrasound findings, 11 (11.8%) fetuses were screened and diagnosed with monogenic diseases, mostly with Noonan syndrome. NIPT-SGG determined >99.99% of actual positive and negative cases, confirmed by diagnostic tests. No false-negatives or false-positives were reported. Conclusion: NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.