Introduction: Many scientific societies have emphasized the importance of evaluating the clinical utility of reproductive carrier screening (RCS). This systematic review aims to assess the clinical utility of RCS and synthesize the outcomes in a meta-analysis.
Areas covered: A total of eleven studies were included. The number of conditions screened in the studies varied from three to 176 and led to the identification of one to 24 high-risk couples (HRCs) per 1,000 screened individuals. Pooled estimations were as follows: the prenatal diagnosis (PND) rate among pregnant HRCs 0.644 (95% CI = 0.364, 0.923), the termination rate among affected pregnancies 0.714 (95% CI = 0.524, 0.904), and the rate of in-vitro fertilization (IVF) with preimplantation genetic testing (PGT) 0.631 (95% CI = 0.538, 0.725). There is a statistically significant decrease in the rates of undertaking PND and termination as the number of screened conditions increases. Carriers of conditions classified as having a more severe impact were found to be more likely to choose termination or IVF with PGT.
Expert opinion: Our review suggests that the number and the severity of screened conditions can significantly impact HRCs' reproductive decisions. Future work needs to investigate the definition of clinical utility and the design of screening panels.
Keywords: Systematic review; X-linked; autosomal recessive; clinical utility; expanded carrier screening; meta-analysis; reproductive carrier screening.