CSDL Bài trích Báo - Tạp chí
Detection of pathogenic variants related to severe dominant monogenic diseases by non-invasive prenatal testing (NIPT-SGD)
Tác giả: Dao Thi Trang, Luong Thi Lan Anh, Nguyen Duy Anh, Nguyen Huu Duc Anh, Nguyen Thi Sim, Nguyen Thi Hao, Tang Hung Sang, Tran Vu Uyen, Nguyen Hoai Nghia, Giang Hoa
Số trang:
P. 1-8
Số phát hành:
Tập 173 - Số 12 - Tháng 12
Kiểu tài liệu:
Tạp chí trong nước
Nơi lưu trữ:
03 Quang Trung
Mã phân loại:
610
Ngôn ngữ:
Tiếng Anh
Từ khóa:
Single-gene disorders, NIPT-SGD, TSC2, FGFR3, FGFR2, PTPN11
Chủ đề:
Obstetrics
Tóm tắt:
Report describes the first cases in Vietnam that identified pathogenic/likely pathogenic variants by NIPT-SGD in fetuses. These findings were compared with the diagnostic testing (whole exome sequencing/WES) on amniotic fluid/placenta tissue/umbilical cord blood samples. Single-gene NIPT detected pathogenic variants in the fetuses on TSC2, FGFR3, FGFR2 (two cases), and PTPN11 genes. All results coincided with the subsequent diagnosis. Preliminary research showed the potential of cell-free fetal DNA analysis for prenatal screening of dominant single-gene mutations.