The Impact of Noninvasive Prenatal Testing on the Practice of Maternal–Fetal Medicine

Abstract

Objective Noninvasive prenatal testing (NIPT) via cell-free fetal DNA in the maternal circulation is a highly sensitive and specific new testing option. The objective of this study was to determine the impact of NIPT on the uptake of first trimester screening (FTS) and invasive genetic testing.

Study Design Uptake of prenatal testing was investigated in women referred for advanced maternal age or abnormal screening to the University of Texas Health Maternal-Fetal Medicine Clinics in Houston. Patients who presented from August to November 2011, before clinical introduction of NIPT, were compared with patients who presented from March to June 2012, after its introduction.

Results In patients referred between 14 and 22 weeks gestational age, invasive genetic testing was significantly reduced following the introduction of NIPT (35.4 vs. 17.9%, p < 0.05). For patients referred at < 14 weeks gestational age, FTS was significantly reduced with NIPT introduction (89.1 vs. 59.1%, p < 0.05); however, invasive genetic testing was not significantly different (20.0 vs. 14.0%, p > 0.05).

Conclusion NIPT has made an impact on the practice of maternal–fetal medicine by significantly decreasing the number of second trimester diagnostic tests performed. In addition, patients interested in early screening information appear to prefer the higher sensitivity and specificity of NIPT.

Keywords

noninvasive prenatal testing - NIPT - cell-free DNA - genetic screening

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