作者
Aishwarya Arjunan, Raul Torres, Anna Gardiner, Kristjan Eerik Kaseniit, Jeff Wootton, Rotem Ben‐Shachar, Katherine Johansen Taber
发表日期
2021/6
期刊
Prenatal Diagnosis
卷号
41
期号
7
页码范围
896-904
简介
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 …
引用总数
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