Non-Invasive Prenatal Testing is offered to pregnant women across the risk spectrum, but specific groups derive particular benefit:
*Women with advanced maternal age (35 years or older at delivery)
*A prior pregnancy affected by a chromosomal condition
*An abnormal first-trimester combined screening result
*A family history of a chromosomal disorder
*An ultrasound soft marker suggestive of increased aneuploidy risk
The genome-wide option is worth discussing specifically with women who want screening beyond the three common trisomies, since it also reports on rare autosomal aneuploidies and select large copy number variants though this comes with a materially lower positive predictive value for these additional categories, which needs to be explained upfront. Women who wish to avoid the procedural miscarriage risk of invasive testing, while still obtaining a highly sensitive risk assessment, are also good candidates. It is not recommended as a substitute for diagnostic testing in women who already have a confirmed high-risk indication requiring definitive results. Though if the risk factor is showed to be high in NIPT, ultimately it leads to requiring invasive testing for confirmatory.