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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss
Prenatal Diagnosis, Volume 32, No. 10, Year 2012
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Description
Objective: Our knowledge about miscarriages mainly concerns pregnancies of at least 8weeks' 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 >5Mb, 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.
Authors & Co-Authors
Deprest, JanaM
Belgium, Leuven
Ku Leuven
D'Hooghe, Thomas Maria
Belgium, Leuven
Ku Leuven
Vermeesch, Joris Robert
Belgium, Leuven
Ku Leuven
Belgium, Leuven
Center for Human Genetics
Statistics
Citations: 49
Authors: 3
Affiliations: 2
Identifiers
Doi:
10.1002/pd.3936
ISSN:
10970223
Research Areas
Genetics And Genomics
Maternal And Child Health
Sexual And Reproductive Health