Abstract
Objective To evaluate changes in indications for genetic testing after introduction of noninvasive
prenatal screening (NIPS) into a single center. Pregnancy outcomes and results of
testing were evaluated.
Study Design It was a retrospective cohort study. Medical records were reviewed for all invasive
testing procedures from January 1, 2007, to December 31, 2015. NIPS was introduced
in February 1, 2012. Indications were compared before and after that date. Results
of genetic testing and pregnancy outcome were also obtained from the medical records
where available.
Results A total of 2,066 invasive diagnostic procedures were performed. Significantly fewer
invasive procedures were performed per month following introduction of NIPS (23 vs.
13). Indications were less likely to be reported as advanced maternal age (AMA), abnormal
genetic screening, and abnormal ultrasound findings following introduction of NIPS
(p < 0.0001). No difference was noted for parental chromosome abnormality, risk of single-gene
disorder, or prior child with aneuploidy. Tests performed after introduction of NIPS
were more likely abnormal (16.3 vs. 27.6%; p < 0.0001).Total number of pregnancy terminations decreased (130 vs. 123); more were
terminated after prenatal diagnosis following NIPS introduction (12.9 vs. 30.1%).
Conclusion Since the introduction of NIPS, fewer invasive tests are performed. Indications have
changed since NIPS was introduced, becoming less common for AMA, abnormal genetic
screening, and abnormal ultrasounds.
Keywords
noninvasive prenatal screening - noninvasive prenatal testingamniocentesis - chorionic
villus sampling
