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

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: 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.