Carrier Screening Insights From a Maternal-Fetal Medicine Practice

The authors investigate the timing and practices of carrier screening for genetic conditions in a high-volume maternal-fetal medicine center, aiming to identify patterns that lead to delays and inequities in screening. They find that carrier screening is often conducted later than optimal, which complicates decision-making and increases patient distress, and they advocate for prioritizing prepregnancy screening or early pregnancy screening with concurrent partner testing. The study emphasizes the need for better counseling on screening options to enhance patient autonomy and reduce the risk of misinterpretation.