Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples.

摘要: The 22q11.2 deletion syndrome is the most common microdeletion in livebirths, but data regarding its incidence other populations limited and also include ascertainment bias. This study was designed to determine of miscarriage samples sent for clinical molecular cytogenetic testing. Twenty-six thousand one hundred fresh product conception (POC) were a CLIA- certified, CAP-accredited laboratory from April 2010–-May 2016 testing using single-nucleotide polymorphism (SNP)-based microarray platform. A retrospective review determined this sample set. Fetal results obtained 22,451 (86%) cases, which, 15 (0.07%) had region (incidence, 1/1497). Of those, 12 (80%) cases found that normal at resolution traditional karyotyping (i.e., no chromosome abnormalities above 10 Mb size) three (20%) additional findings (Trisomy 15, Trisomy 16, XXY). Ten (67%) with ~3 Mb deletion; remaining 5 deletions ranging size 0.65 1.5 Mb. majority (12/15) on maternally inherited chromosome. No significant relationship between maternal age presence fetal observed. observed 1/1497 higher than reported general population prevalence (1/4000–1/6000). Further research needed whether causal factor miscarriage.