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

TLDR

The study examined how introducing NIPT affected women’s testing decisions after a positive prenatal screening result. Women with a positive prenatal screening were offered NIPT or invasive testing, and the study compared testing rates before and after NIPT introduction using statistical tests and logistic regression to identify predictors. Introducing NIPT significantly reduced invasive diagnostic testing and the proportion of women who declined further testing, with race/ethnicity and timing of results influencing test choice.

Abstract

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.