Evaluating the efficacy of three carrier screening workflows designed to identify at‐risk carrier couples. (8th February 2021)

• Record Type: Journal Article
• Authors: Arjunan, Aishwarya; Torres, Raul; Gardiner, Anna; Kaseniit, Kristjan Eerik; Wootton, Jeff; Ben‐Shachar, Rotem; Johansen Taber, Katherine
• Is Part Of: Prenatal diagnosis. Volume 41:Number 7(2021)
• Page Start: 896
• Page End: 904
• Publication Date: 2021-02-08
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5900
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: To evaluate the efficacy of three different carrier screening workflows designed to identify couples at risk for having offspring with autosomal recessive conditions. Methods: Partner testing compliance, unnecessary testing, turnaround time, and ability to identify at‐risk couples (ARCs) were measured across all three screening strategies (sequential, tandem, or tandem reflex). Results: A total of 314, 100 individuals who underwent carrier screening were analyzed. Sequential, tandem, and tandem reflex screening yielded compliance frequencies of 25.8%, 100%, and 95.9%, respectively. Among 14, 595 couples tested in tandem, 42.2% of females were screen‐negative, resulting in unnecessary testing of the male partner. In contrast, less than 1% of tandem reflex couples included unnecessary male testing. The median turnaround times were 29.2 days (sequential), 8 days (tandem), and 13.3 days (tandem reflex). The proportion of ARCs detected per total number of individual screens were 0.5% for sequential testing and 1.3% for both tandem and tandem reflex testing. Conclusion: The tandem reflex strategy simplifies a potentially complex clinical scenario by providing a mechanism by which providers can maximize partner compliance and the detection of at‐risk couples while minimizing workflow burden and unnecessary testing and is more efficacious than both sequential and tandem screening strategies. Highlights: What's already known about this topic? Studies have explored barriers to carrier screening and follow up partner testing to identify at‐risk couples. However, to date, no one has explored the efficacy of different carrier screening workflows. What does this study add? This study highlights how providers could maximize the utility of carrier screening in identifying at‐risk couples based on the screening strategy utilized.