학술논문
Detection of maternal carriers of common α-thalassemia deletions from cell-free DNA.
Document Type
Academic Journal
Author
Doan PL; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Nguyen DA; Hanoi Obstetrics and Gynaecology Hospital, Ha Noi, Vietnam.; Le QT; Tu Du Hospital, Ho Chi Minh City, Vietnam.; Hoang DT; Hung Vuong Hospital, Ho Chi Minh City, Vietnam.; Nguyen HD; Can Tho Gynaecology and Obstetrics Hospital, Can Tho, Vietnam.; Nguyen CC; Hanoi Obstetrics and Gynaecology Hospital, Ha Noi, Vietnam.; Doan KPT; Ha Noi Medical University, Ha Noi, Vietnam.; Tran NT; University Medical Centre HCM, Ho Chi Minh City, Vietnam.; Ha TMT; University of Medicine and Pharmacy, Hue University, Hue, Vietnam.; Trinh THN; Tu Du Hospital, Ho Chi Minh City, Vietnam.; Nguyen VT; Hung Vuong Hospital, Ho Chi Minh City, Vietnam.; Bui CT; Center for Molecular Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.; Lai NT; Women and Children Hospital of Kien Giang, Kien Giang, Vietnam.; Duong TH; Reproductive Health Care Centre of Binh Duong, Binh Duong, Vietnam.; Mai HL; Gia Dinh People Hospital, Ho Chi Minh City, Vietnam.; Huynh PV; Gia Dinh People Hospital, Ho Chi Minh City, Vietnam.; Huynh TTT; Khanh Hoa General Hospital, Nha Trang, Vietnam.; Le QV; Cam Ranh General Hospital, Cam Ranh, Vietnam.; Vo TB; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Dao TH; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Vo PA; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Le DN; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Tran NNT; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Tran QNT; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Van YT; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Tran HT; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Nguyen HT; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Nguyen PU; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Do TT; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Truong DK; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Tang HS; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Cao NT; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Lam TT; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Tran LS; Gene Solutions, Ho Chi Minh City, Vietnam.; Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Nguyen HN; Medical Genetics Institute, Ho Chi Minh City, Vietnam. nhnghia81@gmail.com.; Center for Molecular Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam. nhnghia81@gmail.com.; Giang H; Gene Solutions, Ho Chi Minh City, Vietnam. gianghoa@gmail.com.; Medical Genetics Institute, Ho Chi Minh City, Vietnam. gianghoa@gmail.com.; Phan MD; Gene Solutions, Ho Chi Minh City, Vietnam. pmduy@yahoo.com.; Medical Genetics Institute, Ho Chi Minh City, Vietnam. pmduy@yahoo.com.
Source
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Subject
Language
English
Abstract
α-Thalassemia is a common inherited blood disorder manifested mainly by the deletions of α-globin genes. In geographical areas with high carrier frequencies, screening of α-thalassemia carrier state is therefore of vital importance. This study presents a novel method for identifying female carriers of common α-thalassemia deletions using samples routinely taken for non-invasive prenatal tests for screening of fetal chromosomal aneuploidies. A total of 68,885 Vietnamese pregnant women were recruited and α-thalassemia statuses were determined by gap-PCR, revealing 5344 women (7.76%) carried deletions including αα/-- SEA (4.066%), αα/-α 3.7 (2.934%), αα/-α 4.2 (0.656%), and rare genotypes (0.102%). A two-stage model was built to predict these α-thalassemia deletions from targeted sequencing of the HBA gene cluster on maternal cfDNA. Our method achieved F1-scores of 97.14-99.55% for detecting the three common genotypes and 94.74% for detecting rare genotypes (-α 3.7 /-α 4.2 , αα/-- THAI , -α 3.7 /-- SEA , -α 4.2 /-- SEA ). Additionally, the positive predictive values were 100.00% for αα/αα, 99.29% for αα/-- SEA , 94.87% for αα/-α 3.7 , and 96.51% for αα/-α 4.2 ; and the negative predictive values were 97.63%, 99.99%, 99.99%, and 100.00%, respectively. As NIPT is increasingly adopted for pregnant women, utilizing cfDNA from NIPT to detect maternal carriers of common α-thalassemia deletions will be cost-effective and expand the benefits of NIPT.
(© 2022. The Author(s).)
(© 2022. The Author(s).)