title: Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Human Genetics, KU Leuven, Leuven, Belgium.
authors: Caroline
authors: C
authors: Robberecht
authors: Anne
authors: A
authors: Pexsters
authors: Jan
authors: J
authors: Deprest
authors: Jean-Pierre
authors: JP
authors: Fryns
authors: Thomas
authors: T
authors: D'Hooghe
authors: Joris Robert
authors: JR
authors: Vermeesch
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics* / Q000473:pathology*; D000328:Adult; D001706:Biopsy; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D005260:Female; D005332:Fetoscopy; D005865:Gestational Age; D006801:Humans; D015907:Hysteroscopy; D019656:Loss of Heterozygosity; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy