Prenatal chromosomal microarray uptake with invasive prenatal diagnosis: How many patients take the leap?

Characterize the uptake of chromosomal microarray analysis (CMA) among women undergoing invasive prenatal diagnosis at a large academic institution over a 4-year time period.

Retrospective database review of women who underwent invasive prenatal diagnosis via chorionic villus sampling (CVS) or amniocentesis. Entries were reviewed for demographic and clinical information.

Nine hundred forty-six diagnostic procedures were performed at our institution over a 4-year time period including 259 CVS and 687 amniocentesis procedures. Overall, 32% elected CMA, with a significant increase in uptake over time. Women with Medicaid/CHIP insurance were more likely to elect CMA than those with private insurance (OR = 1.59, 95% CI, 1.18-2.14), while multigravida women were less likely than primigravidas to elect CMA (P = 0.003). Women with ultrasound findings were more likely to elect CMA than any other indication. Those with structural abnormalities in multiple systems (OR = 3.75, 95% CI, 1.60-8.79) or abnormalities in a single system (OR = 3.22, 95% CI, 1.47-7.05) were more likely to elect CMA than with any other types of ultrasound findings.

The uptake of CMA significantly increased over a 4-year period at a large academic institution. Women with ultrasound indications, specifically structural abnormalities, are the most likely to elect CMA.