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 Truong, 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 Nguyen, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Hung-Sang Tang, Hoa Giang
{"title":"开发和验证越南新发常染色体显性单基因疾病的无创产前检测。","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 Truong, 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 Nguyen, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Hung-Sang Tang, Hoa Giang","doi":"10.2217/pme-2023-0076","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> 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. <b>Methods:</b> NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm <i>de novo</i> variants. Diagnostic tests confirmed NIPT-detected cases. <b>Results:</b> 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. <b>Conclusion:</b> NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"425-433"},"PeriodicalIF":1.7000,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Developing and validating noninvasive prenatal testing for <i>de novo</i> autosomal dominant monogenic diseases in Vietnam.\",\"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 Truong, 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 Nguyen, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Hung-Sang Tang, Hoa Giang\",\"doi\":\"10.2217/pme-2023-0076\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Background:</b> 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. <b>Methods:</b> NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm <i>de novo</i> variants. Diagnostic tests confirmed NIPT-detected cases. <b>Results:</b> 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. <b>Conclusion:</b> NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.</p>\",\"PeriodicalId\":19753,\"journal\":{\"name\":\"Personalized medicine\",\"volume\":\" \",\"pages\":\"425-433\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2023-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Personalized medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2217/pme-2023-0076\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/8/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2217/pme-2023-0076","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/25 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam.
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.
期刊介绍：
Personalized Medicine (ISSN 1741-0541) translates recent genomic, genetic and proteomic advances into the clinical context. The journal provides an integrated forum for all players involved - academic and clinical researchers, pharmaceutical companies, regulatory authorities, healthcare management organizations, patient organizations and others in the healthcare community. Personalized Medicine assists these parties to shape thefuture of medicine by providing a platform for expert commentary and analysis.
The journal addresses scientific, commercial and policy issues in the field of precision medicine and includes news and views, current awareness regarding new biomarkers, concise commentary and analysis, reports from the conference circuit and full review articles.
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