Details

Autor(en) / Beteiligte

• Doan, Phuoc-Loc
• Nguyen, Duy-Anh
• Le, Quang Thanh
• Hoang, Diem-Tuyet Thi
• Nguyen, Huu Du
• Nguyen, Canh Chuong
• Doan, Kim Phuong Thi
• Tran, Nhat Thang
• Ha, Thi Minh Thi
• Trinh, Thu Huong Nhat
• Nguyen, Van Thong
• Bui, Chi Thuong
• Lai, Ngoc-Diep Thi
• Duong, Thanh Hien
• Mai, Hai-Ly
• Huynh, Pham-Uyen Vinh
• Huynh, Thu Thanh Thi
• Le, Quang Vinh
• Vo, Thanh Binh
• Dao, Thi Hong-Thuy
• Vo, Phuong Anh
• Le, Duy-Khang Nguyen
• Tran, Ngoc Nhu Thi
• Tran, Quynh Nhu Thi
• Van, Yen-Linh Thi
• Tran, Huyen-Trang Thi
• Nguyen, Hoai Thi
• Nguyen, Phuong-Uyen
• Do, Thanh-Thuy Thi
• Truong, Dinh-Kiet
• Tang, Hung Sang
• Cao, Ngoc-Phuong Thi
• Lam, Tuan-Thanh
• Tran, Le Son
• Nguyen, Hoai-Nghia
• Giang, Hoa
• Phan, Minh-Duy

Titel

Detection of maternal carriers of common α-thalassemia deletions from cell-free DNA

Ist Teil von

• Scientific reports, 2022-08, Vol.12 (1), p.13581-13581, Article 13581

Ort / Verlag

London: Nature Publishing Group

Erscheinungsjahr

2022

Link zum Volltext

Quelle

EZB-FREE-00999 freely available EZB journals

Beschreibungen/Notizen

• 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.