NIPT’s Sex Chromosome Abnormalities: Clinical Pearls.

NIPT is a prenatal SCREENING method that involves analysis of cell-free fetal DNA (cfDNA) in maternal blood. Prenatal screening for sex chromosome aneuploidies (SCAs) has become readily available through expanded non-invasive prenatal testing (NIPT). NIPTs became commercially available in 2011 and has since been introduced in more than 60 countries around the world and is now part of mainstream obstetrical practice. Initially offered as a secondary screen for pregnancies with a high probability of a fetal chromosomal anomaly, NIPT is now often offered and recommended as a first-line screening test for the main chromosomal aneuploidies. Initially, NIPT was available to screen for fetal trisomies 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome). This has expanded of course to include (separately) fetal sex chromosome aneuploidy (SCA) screening. However, there are some VERY important points we must remember when seeing an “atypical sex chromosome” NIPT result. What is the PPV of a SCA found on NIPT? In this episode we will highlight a recent NIPT atypical sex chromosome result from our practice and review what this may and may not actually mean, and review why NIPT screening for SCA is actually VERY controversial with some potential ETHICAL concerns, with some countries recommending AGAINST ordering it. Lots to cover here….so listen in.

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