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. 2023 Nov;20(6):467-475.
doi: 10.2217/pme-2023-0105. Epub 2023 Nov 8.

De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series

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

De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series

Nhat-Thang Tran et al. Per Med. 2023 Nov.

Abstract

Background: Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. Materials & methods: In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases. Results: A total of 13 single-gene fetuses were confirmed, including Noonan and Costello syndromes, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and Apert syndrome. Two novel variants seen were tuberous sclerosis complex (TSC2 c.4154G>A) and Alagille syndrome (JAG1 c.3452del). Conclusion: NIPT-SGG and standard tests agree on the results for 13 fetuses with monogenic disorders. This panel method of screening can benefit high-risk Vietnamese pregnancies, but further research is encouraged to expand on the causative gene panel.

Keywords: case series; cell-free DNA; de novo; monogenic disorders; prenatal screening.

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