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.