NIPS, Non invasive prenatal screening, NIPT, Non invasive chromosomal screening

ObGyn, IVF, Fetal Medicine

Fetal DNA fragments cross the placental barrier and are present in maternal blood which is used to screen for chromosomal aneuploidy risk by NextGeneration Sequencing technology. Presence of extra or less chromosome copies will be indicated by a z score which is not within the range. NIPT although highly sensitive is a screening test and followup prenatal diagnostic proceedures such as CVS or Amniocentesis will be required for diagnosis. The test does not diagnose small copy number variations, single nucleotide changes, small insertions, small deletions and structural rearrangements such as translocations.

Routine screening for aneuploidy, High risk results of maternal serum markers (Double marker, Quadruple marker), history of a child or fetus with chromosomal aneuploidy such as Down syndrome, Edward syndrome, Patau Syndrome, Turner Syndrome etc, Ultrasound soft markers for fetal aneuploidy