Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

American Journal of Human Genetics
Sumit PunjCarolyn Sue Richards

Abstract

Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported. Novel missense variants were classified as variants of uncertain significance. We reported 304 variants in 202 participants. Twelve carrier couples (12/71 couples tested) were identified for common conditions; eight were carriers for hereditary hemochromatosis. Although both known and novel variants were reported, 48% of all reported variants were missense. For novel splice-site variants, RNA-splicing assays were performed to aid in classification. We reported ten copy-number variants and five variants in non-coding regions. One novel variant was reported i...Continue Reading

Citations

May 3, 2019·Human Mutation·Alice FiévetMarc-Henri Stern
Dec 13, 2019·Journal of Community Genetics·Charlotte A Rowe, Caroline F Wright
Sep 25, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Stephanie A KraftKatrina A B Goddard
May 31, 2019·Nature Reviews. Genetics·Stylianos E Antonarakis
Nov 21, 2018·Clinical Case Reports·Alan F RopeKatrina A B Goddard
Mar 20, 2019·Human Genetics·Yumi Yamaguchi-KabataUNKNOWN Tohoku Medical Megabank Project Study Group
Aug 28, 2020·American Journal of Human Genetics·Tamara S RomanJonathan S Berg
Oct 12, 2021·The Cochrane Database of Systematic Reviews·Norita HusseinNadeem Qureshi

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