Noninvasive Prenatal Diagnosis (NIPD)
(Dr. Dinh Phong Son)
Noninvasive prenatal diagnosis (NIPD) is a groundbreaking method that allows for the detection of genetic conditions in a fetus without the need for invasive procedures like amniocentesis or chorionic villus sampling. NIPD analyzes cell-free fetal DNA (cffDNA) circulating in the maternal bloodstream to provide valuable genetic information about the fetus. This approach is increasingly used for early detection of conditions like Down syndrome, cystic fibrosis, and other genetic disorders.Maternal and Fetal-Derived Cell-Free DNA
The blood of a pregnant woman contains both maternal and fetal-derived cffDNA. This fetal DNA, shed from the placenta, can be detected early in pregnancy (after 10 weeks) to analyze the fetus's genetic health.Genetic Analysis of Cell-Free Fetal DNA
NIPD analyzes the cffDNA to identify genetic mutations or chromosomal abnormalities, helping detect conditions like Down syndrome or cystic fibrosis, with no risk to the fetus.Direct and Indirect Analysis Methods
Genetic variants can be detected directly through sequencing of fetal DNA or indirectly via methods like Relative Haplotype Dosage (RHDO) analysis, which infers the presence of pathogenic variants based on genetic markers.
For more info: Gerrish, A.; Jenkinson, H.; Cole, T. The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma. Cancers 2021, 13, 1570.
