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Carrier Screening With Next-Generation Sequencing Detects Common, Uncommon, and Novel Mutations


Our objective was to evaluate the clinical effectiveness of NGS in screening for carriers of 14 society-recommended disorders across a large number of patients in a clinical setting.


Using NGS, we evaluated carrier status for up to 14 diseases (as ordered by physicians) for 71,070 patients from IVF centers across the US.

Diseases screened, and corresponding genes in parentheses, may include: Bloom’s syndrome (BLM), Canavan disease (ASPA), cystic fibrosis (CFTR), dihydrolipoamide dehydrogenase deficiency (DLD), familial dysautonomia (IKBKAP), familial hyperinsulinism (ABCC8), Fanconi anemia group C (FANCC), glycogen storage disease 1a (G6PC), maple syrup urine disease type 1A/1B (BCKDHA/B), mucolipidosis type IV (MCOLN1), Niemann-Pick type A/B (SMPD1), Tay-Sachs disease (HEXA), Usher syndrome 1F (PCDH15), Usher syndrome 3 (CLRN1).


Our NGS platform detected a total of 3,093 mutations (403 distinct mutations) among 15 genes responsible for 14 diseases, including numerous mutations missed by other screening assays. Had traditional screening assays been used, 13.9% (95% CI: 12.7–15.2) of all carriers identified across these diseases would have been missed. Excluding cystic fibrosis (a well-characterized disease), 30.6% (95% CI: 27.8–33.5) of carriers would have been missed, putting the reproductive couple at increased risk of having a child with a genetic disorder.


Due to the vast number of pathogenic mutations detectable for each gene, NGS more comprehensively evaluates carrier status, yields higher detection rates, and reduced residual risk irrespective of patient ethnicity, resulting in fewer missed carriers .

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