What is Non-Invasive Prenatal Testing and how does it work?

[Anonymous]

What is Non-Invasive Prenatal Testing and how does it work?

[Sana Fathima K S]

Non-Invasive Prenatal Testing is a screening test performed on a maternal blood sample, usually collected after 10 weeks of pregnancy. During pregnancy, small fragments of placental DNA otherwise knows as cell-free fetal DNA, enter the mother’s bloodstream and circulate alongside her own cell-free DNA. Non-Invasive Prenatal Testing uses next-generation sequencing to analyze this mixed pool of DNA fragments and calculate the relative proportion contributed by the placenta, which serves as a proxy for fetal chromosome dosage. An excess or deficit in the expected proportion of DNA from a given chromosome indicates a possible aneuploidy. Initially, screening for aneuploidies for chromosomes 13, 18, 21, and sex chromosomal aneuploidies were available however, Genome-wide panels extend this analysis across all 23 pairs of chromosomes, rather than restricting it to chromosomes 13, 18, 21, X, and Y. Because the test only requires a maternal blood draw, it carries no procedural risk to the pregnancy, unlike invasive diagnostic procedures such as amniocentesis or chorionic villus sampling.

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