作者
Nhi Hoang Nguyen,Y-Thanh Lu,Duy-Anh Nguyen,Canh-Chuong Nguyen,Linh Dinh,Martin Tran,Danh-Cuong Tran,Lan-Anh Thi Luong,Kim-Phuong Doan,Vu Quoc Huy Nguyen,Thi Minh Thi Ha,Lisa Truong,Nhat Thang Tran,Phuong Thi-Mai Cao,Vanessa Tran,Thu Huong Nhut Trinh,Quang Thanh Le,Van Thong Nguyen,Diem-Tuyet Thi Hoang,Sautina Vo,My-Nhi Ba Nguyen,Chi-Thuong Bui,Sonny Tran,Duc-Tam Lam,Hong-Thinh Le,My-Ngoc Ba Nguyen,Viet-Thang Ho,Minh‐Trung Nguyen,Phuoc-Loc Doan,Kim-Van Thi Tran,Huyen-Trang Thi Tran,Uyen Vu Tran,An Q Dinh,Thanh-Thanh Thi Nguyen,Thanh-Thuy Thi,Dinh-Kiet Truong,Minh-Duy Phan,Hoai-Nghia Nguyen,Hung-Sang Tang,Hoa Giang
摘要
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.