Open AccessGenetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes
Author(s) -
Sarah M. Robbins,
Matthew A. Thimm,
David Valle,
Angie C. Jelin
Publication year - 2019
Publication title -
journal of assisted reproduction and genetics
Language(s) - English
Resource type - Journals
eISSN - 1573-7330
pISSN - 1058-0468
DOI - 10.1007/s10815-019-01499-6
Subject(s) - biology , exome sequencing , genetics , candidate gene , human genetics , gene , exome , phenotype , bioinformatics
Non-aneuploid recurrent pregnancy loss (RPL) affects approximately 100,000 pregnancies worldwide annually. Exome sequencing (ES) may help uncover the genetic etiology of RPL and, more generally, pregnancy loss as a whole. Previous studies have attempted to predict the genes that, when disrupted, may cause human embryonic lethality. However, predictions by these early studies rarely point to the same genes. Case reports of pathogenic variants identified in RPL cases offer another clue. We evaluated known genetic etiologies of RPL identified by ES.