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Case Reports
. 2017 Mar 9:10:6.
doi: 10.1186/s13039-017-0308-6. eCollection 2017.

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

Melissa K Maisenbacher  1 , Katrina Merrion  1 , Barbara Pettersen  1 , Michael Young  1 , Kiyoung Paik  1 , Sushma Iyengar  1 , Stephanie Kareht  1 , Styrmir Sigurjonsson  1 , Zachary P Demko  1 , Kimberly A Martin  1
Affiliations
Case Reports

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

Melissa K Maisenbacher et al. Mol Cytogenet. .

Abstract

Background: The 22q11.2 deletion syndrome is the most common microdeletion syndrome in livebirths, but data regarding its incidence in other populations is limited and also include ascertainment bias. This study was designed to determine the incidence of the 22q11.2 deletion in miscarriage samples sent for clinical molecular cytogenetic testing.

Results: Twenty-six thousand one hundred one fresh product of conception (POC) samples were sent to a CLIA- certified, CAP-accredited laboratory from April 2010--May 2016 for molecular cytogenetic miscarriage testing using a single-nucleotide polymorphism (SNP)-based microarray platform. A retrospective review determined the incidence of the 22q11.2 deletion in this sample set. Fetal results were obtained in 22,451 (86%) cases, of which, 15 (0.07%) had a microdeletion in the 22q11.2 region (incidence, 1/1497). Of those, 12 (80%) cases were found in samples that were normal at the resolution of traditional karyotyping (i.e., had no chromosome abnormalities above 10 Mb in size) and three (20%) cases had additional findings (Trisomy 15, Trisomy 16, XXY). Ten (67%) cases with a 22q11.2 deletion had the common ~3 Mb deletion; the remaining 5 cases had deletions ranging in size from 0.65 to 1.5 Mb. A majority (12/15) of cases had a deletion on the maternally inherited chromosome. No significant relationship between maternal age and presence of a fetal 22q11.2 deletion was observed.

Conclusions: The observed incidence of 1/1497 for the 22q11.2 deletion in miscarriage samples is higher than the reported general population prevalence (1/4000-1/6000). Further research is needed to determine whether the 22q11.2 deletion is a causal factor for miscarriage.

Keywords: 22q11.2 deletion; Bioinformatics; Miscarriage; Products of conception; Single nucleotide polymorphism (SNP) microarray.

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Figures

Fig. 1
Fig. 1
Summary of the study cohort. #Had chromosome abnormalities that could be detected at the resolution of traditional karyotyping (≥10 Mb). *Had no apparent chromosome abnormalities that could be detected at the resolution of traditional karyotyping
Fig. 2
Fig. 2
Schematic of each deletion in the 22q11.2 region. Based on coordinates from the NCBI36/hg18 genome browser. The common A–-D low copy repeats are shown in blue boxes
See this image and copyright information in PMC

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