Nhat-Thang Tran, Son Ta Vo, 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 Truong, Phuong Thi-Mai Cao, Vy Thi-Nhat Tran, Thu Huong Nhut Trinh, Quang Thanh Le, Van Thong Nguyen, Diem-Tuyet Thi Hoang, 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, Trang Thi Dao, Phuong Minh Nguyen, Thu-Hang Le Nguyen, Nhung Phuong Ha, Y-Thanh Lu, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Hoa Giang, Hung-Sang Tang
{"title":"<i>De novo</i> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.","authors":"Nhat-Thang Tran, Son Ta Vo, 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 Truong, Phuong Thi-Mai Cao, Vy Thi-Nhat Tran, Thu Huong Nhut Trinh, Quang Thanh Le, Van Thong Nguyen, Diem-Tuyet Thi Hoang, 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, Trang Thi Dao, Phuong Minh Nguyen, Thu-Hang Le Nguyen, Nhung Phuong Ha, Y-Thanh Lu, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Hoa Giang, Hung-Sang Tang","doi":"10.2217/pme-2023-0105","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> 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. <b>Materials & methods:</b> 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. <b>Results:</b> 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 (<i>TSC2</i> c.4154G>A) and Alagille syndrome (<i>JAG1</i> c.3452del). <b>Conclusion:</b> 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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"467-475"},"PeriodicalIF":0.0000,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2217/pme-2023-0105","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/11/8 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
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.
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