Uptake rates for non-invasive prenatal screening for single-gene disorders associated with advanced paternal age

This study sought to quantify uptake rates of non-invasive prenatal screening for de novo single-gene disorders (NIPS-SGD) in pregnant subjects whose reproductive partner is of advanced paternal age (APA) and to determine individual parameters associated with higher test uptake rates. A cross-sectional study was performed of pregnant subjects who received prenatal genetic counseling at a mid-size tertiary care center and were offered NIPS-SGD for APA (defined as 45 or older at delivery) between June 1, 2017 and April 13, 2021. We included non-anomalous, singleton gestations who conceived without donor egg/sperm. The outcome was measured as subjects who elected to do NIPS-SGD versus subjects who declined. Multivariable logistic regression was used to develop a model to discriminate between those who opted for testing and those who did not. 186 subjects were offered NIPS-SGD and met inclusion criteria. 70 had testing and 116 declined. Overall uptake rate was 38%. Several individual parameters were associated with higher test uptake including utilization of other screenings such as NIPS for aneuploidy (OR 3.4), carrier screening (OR 7.0) and invasive diagnostic testing (OR 8.4), presence of reproductive partner (OR 4.3), medicaid insurance (OR 2.6), and counseling at an offsite location (OR 2.0). AUC for the final regression model predicting NIPS-SGD uptake was 0.79. Based on this study, subjects who are information seekers and who opt for other prenatal screenings are more likely to pursue NIPS-SGD for de novo conditions associated with APA.