Abstract
Expanded carrier screening, a type of reproductive genetic testing for couples, has gained tremendous popularity for assessing the risk of passing on certain genetic conditions to offspring. Here, a carrier screening assay for 448 pathogenic variants was developed using capillary electrophoresis-based multiplex PCR technology. The capillary electrophoresis-based multiplex PCR assay achieved a sensitivity, specificity, and accuracy of 97.4%, 100%, and 99.6%, respectively, in detecting the specific variants. Among the 1915 couples (3830 individuals), 708 individuals (18.5%) were identified as carriers for at least one condition. Of the 708 carriers, 633 (89.4%) were heterozygous for one condition, 71 (10.0%) for two disorders, 3 (0.4%) for three disorders, and 1 (0.1%) for four disorders. Meanwhile, 30 (1.57%) couples were identified as at‐risk couples. This study describes an inexpensive and effective method for expanded carrier screening. The simplicity and accuracy of this approach will facilitate the clinical implementation of expanded carrier screening.
Highlights
Expanded carrier screening (ECS) represents a type of reproductive genetic testing for couples, which aims to identify asymptomatic carriers for a broad array of specific genetic disorders either when pregnancy or planning to become pregnant
To validate the sensitivity and specificity of capillary electrophoresis-based multiplex PCR assay (CEBMPA), variants in overlapping genes imputed by the two methods were compared (Table 1)
The present study successfully established a method, known as CEBMPA, for carrier screening, which simultaneously genotypes 448 disease-causing variants among 24 genes associated with 20 conditions in the Chinese population
Summary
Expanded carrier screening (ECS) represents a type of reproductive genetic testing for couples, which aims to identify asymptomatic carriers for a broad array of specific genetic (autosomal or Xlinked) disorders either when pregnancy or planning to become pregnant. This test enables the couples to learn the likelihood of having an affected offspring, regardless of ethnic background, race, or family history[1]. Compared with traditional carrier screening, ECS includes a much larger number of inherited genetic conditions and identifies a higher proportion of at‐risk couples in the general population in a cost-effective way[2,3]. Difficulties in interpretation of numerous sequencing variants represent the biggest stumbling block to a large-scale implementation of NGS-based ECS12
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