With Rapid Expansion of NIPT Use Come Calls for More Informed Testing Choice
The rapid uptake in noninvasive prenatal testing (NIPT) is unprecedented in molecular testing and represents an early success story for migrating sequencing-based testing into the clinical setting. As the number of women of advanced maternal age continues to increase, NIPT for cell-free fetal DNA has emerged as an increasingly preferred screening tool for the detection of aneuploidy in these high-risk patients. Now that NIPT is gaining traction, data is emerging on the tests’ performance in actual clinical practice as well as some concerns regarding the need for improved counseling prior to testing. As might be expected, a review of the University of North Carolina (Chapel Hill; UNC) Prenatal Diagnosis unit’s initial experience with NIPT showed an increase in NIPT uptake accompanied by a significant decline in amniocentesis procedures, according to a case study published in the September issue of Genetics in Medicine. However, the rates of “unclassified,” false-positive, and false-negative results reported to UNC were higher than anticipated based on published preclinical trials, the authors say, who also noted decreased success of the test in obese patients. Over the study period (January to September 2012) the center tested 280 women using NIPT. Screening criteria included patients with a gestational age […]
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