Developing and Validating Noninvasive Prenatal Testing for de novo Autosomal Dominant Monogenic Diseases in Vietnam

• DOI: 10.2217/pme-2023-0076
• Publication Date: 2023-08-25T13:31:21Z
• Authors: Nhi Yen Nguyen; Y-Thanh Lu; Duy-Anh Nguyen; Canh-Chuong Nguyen; Linh Thuy Dinh; Minh-Thu Thi Tran; Danh-Cuong Tran; Lan-Anh Thi Luong; Kim-Phuong Doan; Vu Quoc Huy Nguyen; Thi Minh Thi Ha; Linh-Giang Thi Tr...; Nhat-Thang Tran; Phuong Thi-Mai Cao; Vy Thi-Nhat Tran; Thu Huong Nhut Trinh; Quang Thanh Le; Van Thong Nguyen; Diem-Tuyet Thi 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 N...; Thanh-Thuy Thi Do; Dinh-Kiet Truong; Minh-Duy Phan; Hoai-Nghia Nguyen; Hung-Sang Tang; Hoa Giang
• Keywords: Vietnam; Pregnancy; Noninvasive Prenatal Testing; Prenatal Diagnosis; Infant, Newborn; Humans; Female

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.