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Title: Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss
Authors: Robberecht, Caroline ×
Pexsters, Anne
Deprest, Jan
Fryns, Jean-Pierre
D'Hooghe, Thomas
Vermeesch, Joris #
Issue Date: Oct-2012
Publisher: John Wiley & Sons
Series Title: Prenatal diagnosis vol:32 issue:10 pages:933-942
Article number: 10.1002/pd.3936
Abstract: OBJECTIVE: Our knowledge about miscarriages mainly concerns pregnancies of at least 8 weeks' gestation. Information about the morphology and the genetic determinants of early aborted embryos remains limited. In addition, it is known that aneuploidies account for less than half of recurrent spontaneous abortions. We hypothesized that (recurrent) early pregnancy losses might have other genetic causes. METHOD: Products of conception from 51 couples with at least one previous miscarriage were collected by hystero-embryoscopy. The extracted DNA was analyzed by low resolution array comparative genomic hybridization and high resolution single nucleotide polymorphism arrays to detect aneuploidies, polyploidies, submicroscopic copy number variants or copy neutral loss of heterozygosity. RESULTS: Chromosomal aberrations were identified in 65.6% (21/32) of miscarriages and in 89% (8/9) of anembryonic cases. Interestingly, 4/11 chromosomally euploid embryos contained regions of loss of heterozygosity >5 Mb, suggesting the miscarriages might be due to an underlying lethal recessive disease. CONCLUSION: Hystero-embryoscopic biopsy followed by array comparative genomic hybridization is a valuable diagnostic tool for early and recurrent miscarriages. Genome-wide high resolution single nucleotide polymorphism microarray analysis of a larger group of miscarriages could provide more insight into the genetic causes of recurrent spontaneous abortion. © 2012 John Wiley & Sons, Ltd.
URI: 
ISSN: 0197-3851
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Cytogenetics and Genome Research
Sexual, Pelvic, Reproductive and Family Studies (-)
Pregnancy, Foetus and Newborn (-)
Department of Development and Regeneration - miscellaneous (+)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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