The experience with aneuploidy screening in women of advanced age in the public health care setting of a LMIC.xlxs

This is a retrospective study of a large cohort (n=1196) of pregnant women of advanced maternal age (AMA, older than 37 years at conception) managed with a strict ultrasound protocol, well-defined criteria for offering invasive testing and prospective recording of all ultrasound findings and women’s reasons to decline screening or testing, as elicited during genetic counseling. The study explores the outcomes of the local prenatal screening program for Downs syndrome (DS), offered to AMA women in a middle-income country on the African continent. Screening was only based on previous history, maternal age and ultrasound findings (aneuploidy markers or structural anomalies), resulting in an individualised risk assessment in the first and/or second trimester. Main outcome measures were the uptake of screening in those women who received formal pre-screen counseling, the uptake of invasive testing by women who were offered this according to local protocol (either age over 40 or a high risk result or a fetal anomaly), and the uptake of termination of pregnancy when offered. Secondary outcomes included the effect of maternal variables, gestational age at screening, and ultrasound findings (risk increase, high or very high risk, any abnormal findings or a fetal anomaly) on parental decisions.

The study provides a perspective from a limited-resource settings, where this topic has not been widely studied, and shows that DS screening is not a priority for most women in this community (uptake of screening 45%, uptake of invasive testing 18% and uptake of termination for DS 62%) since they would not consider pregnancy termination for DS. Their decision was to some extent influenced by ultrasound markers of aneuploidy indicating a high risk, or the detection of a structural anomaly. Our findings are important for policy decisions that should be targeted to the needs of the local community, rather than attempting to copy screening programs used in high-income countries.