Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening


  • Funding sources: None
  • Conflicts of interest: Dr. Norton is a co-principal investigator on clinical trial NCT0145167, sponsored by Ariosa Diagnostics.



The aim of this study was to investigate how the introduction of noninvasive prenatal testing (NIPT) impacted women's testing choices following a positive prenatal screening (PNS) result.


Beginning in March 2012, women referred to our Prenatal Diagnosis Center following a positive PNS result were offered NIPT or invasive prenatal diagnosis. Rates of invasive testing and declining follow-up were compared with testing decisions the prior year. Differences were compared using t-test and chi-square. Multivariable logistic regression was performed to identify predictors of test choice.


Between March 2012 and February 2013, 398 screen positive women were seen: 156 (39.2%) underwent invasive testing, 157 (39.4%) had NIPT and 84 (21.1%) declined further testing. In the prior year, 638 screen positive patients were seen: 301 (47.2%) had invasive testing and 337 (52.8%) declined. The rate of invasive testing declined significantly (p = 0.012). Moreover, fewer women declined follow-up testing after introduction of NIPT, 21.2% versus 52.8%, p ≤ 0.001. Race/ethnicity and timing of results (first versus second trimester) were predictors of testing choices; payer and maternal age were not.


The introduction of NIPT resulted in a significant decrease in invasive diagnostic testing. Additionally, fewer women declined further testing when NIPT was available. © 2013 John Wiley & Sons, Ltd.