作者
Thi Yen Nhi Nguyen,Y‐Thanh Lu,Anh Duy Nguyen,Canh-Chuong Nguyen,Linh Dinh,Minh-Thu Thi Tran,Danh-Cuong Tran,Lan‐Anh Thi Luong,Kim‐Phuong Doan,Vũ Quốc Huy Nguyễn,Thị Minh Thi Hà,Linh-Giang Thi Truong,Nhat Thang Tran,Phuong Thi-Mai Cao,Vy Thi-Nhat Tran,Thu Huong Nhut Trinh,Quang Thanh Le,Van Thong Nguyen,Don Hoang,Son Ta Vo,My‐Nhi Ba Nguyen,Chi-Thuong Bui,Son-Tra Thi 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 My 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.