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. 2023 Sep;20(5):425-433.
doi: 10.2217/pme-2023-0076. Epub 2023 Aug 25.

Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam

Nhi Yen Nguyen  1   2 , Y-Thanh Lu  1   2 , Duy-Anh Nguyen  3   4 , Canh-Chuong Nguyen  3   4 , Linh Thuy Dinh  3 , Minh-Thu Thi Tran  3 , Danh-Cuong Tran  5 , Lan-Anh Thi Luong  6 , Kim-Phuong Doan  6 , Vu Quoc Huy Nguyen  7 , Thi Minh Thi Ha  7 , Linh-Giang Thi Truong  7 , Nhat-Thang Tran  8   9 , Phuong Thi-Mai Cao  8   9 , Vy Thi-Nhat Tran  9 , Thu Huong Nhut Trinh  10 , Quang Thanh Le  10 , Van Thong Nguyen  11 , Diem-Tuyet Thi Hoang  11 , Son Ta Vo  12 , My-Nhi Ba Nguyen  13 , Chi-Thuong Bui  14 , Son-Tra Thi Tran  15 , Duc-Tam Lam  16 , Hong-Thinh Le  17 , My-Ngoc Ba Nguyen  10 , Viet-Thang Ho  8 , Minh-Trung Nguyen  18 , Phuoc-Loc Doan  1   2 , Kim-Van Thi Tran  1   2 , Huyen-Trang Thi Tran  1   2 , Uyen Vu Tran  1   2 , An My Dinh  1   2 , Thanh-Thanh Thi Nguyen  1   2 , Thanh-Thuy Thi Do  1 , Dinh-Kiet Truong  1 , Minh-Duy Phan  1   2 , Hoai-Nghia Nguyen  1   2 , Hung-Sang Tang  1   2 , Hoa Giang  1   2
Affiliations

Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam

Nhi Yen Nguyen et al. Per Med. 2023 Sep.

Abstract

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.

Keywords: NIPT; cell-free DNA; de novo; maternal serum screening; monogenic disorders; prenatal screening.

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