Jennifer Saucier, Board-Certified Genetic Counselor, and Senior Director of Clinical Genetic Services at Natera, discusses noninvasive prenatal testing (NIPT), how it has increased the accuracy of screening for genetic disorders, and the future of prenatal screening.
As Ms. Saucier explains, prior to NIPT, high-risk maternal serum screening results were used to indicate a higher risk of an infant to be born with Down syndrome. However, these maternal serum screening tests had a positive predictive value (PPV) of approximately 3% compared to NIPT for Down syndrome which has a PPV of approximately 95%. This reduces the need for many pregnant women with high-risk screening results to go through diagnostic testing as the prenatal screening has higher precision and accuracy.
According to Ms. Saucier, as NIPT technology is improved, more diseases will become available for testing and PPV of tests will increase. She also notes that a more diverse range of diseases may be available for NIPT – for example, the majority of NIPT are used for chromosomal conditions and microdeletions but as testing technology advances, NIPT may become available for non-inherited, single-gene conditions.
To learn more about genetic testing and rare genetic disorders, visit checkrare.com/diseases/congenital-and-genetic-conditions/