Abstract
Screening for fetal aneuploidy using non-invasive prenatal testing (NIPT) methods is increasingly utilised for assessment of pregnancies both with and without risk factors for aneuploidy. Our objective was to determine the effect of NIPT availability on the rates of, and indications for, invasive procedures for fetal genetic testing. A retrospective analysis was performed of prenatal aneuploidy screening and testing over two one-year time periods; Jan to Dec 2012 (Pre-NIPT) and Jan-Dec 2016 (Post- NIPT). The total number of patients undergoing chorionic villus sampling (CVS) or amniocentesis was determined for each time period and grouped by the following indications: advanced maternal age (AMA), maternal anxiety (MA), high risk combined first trimester screening or NIPT, abnormal ultrasound finding (US), personal or family history of genetic anomaly (FH) and other indications combined. Differences were compared using chi-square test. Combined first trimester screening (FTS) was the primary method of aneuploidy screening in 2012. By 2016 only 21.7% opted for this method of screening. Post-NIPT, the number of invasive procedures has decreased significantly; 157 amniocentesis and 128 CVS in 2012 to 96 amniocentesis and 63 CVS in 2016 (p<0.001). There was a significant change in the distribution of indications for combined diagnostic testing (p<0.001) across the two time periods, with reductions in the reasons of maternal age (20% to 1%), maternal history (13% to 7%) and other indications (13% to 4%). Conversely, there was increase for ultrasound indications (36% to 73%) (Figure1). CVS indicated by high risk aneuploidy screening increased (18% to 22%), coupled with a significant decrease in amniocentesis for this indication (11% to 4%). The number of invasive diagnostic tests has decreased significantly with the advent of NIPT. The majority of invasive tests are now performed for abnormal ultrasound findings, with fewer low risk pregnancies being exposed to the risks of these procedures.
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