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Cytogenetic signatures of recurrent pregnancy losses.

Svetlana A YatsenkoCristina Quesada-CandelaDevereux N SallerStacy BeckRonald JaffeStefan KostadinovJudith YanowitzAleksandar Rajkovic
Published in: Prenatal diagnosis (2020)
Our study showed several possible genetic etiologies of RPL, including parental structural chromosome rearrangements, predisposition to meiotic nondisjunction, and genomic instability. Loss of karyotypically normal fetuses might be attributed to defects in genes essential for fetal development, as well as aberrations affecting the X chromosome. Molecular studies of parental and POC genomes will help to identify inherited defects in genes involved in meiotic divisions and DNA repair to confirm our hypotheses, and to discover novel fetal-essential genes.
Keyphrases
  • copy number
  • genome wide
  • dna repair
  • dna methylation
  • dna damage
  • bioinformatics analysis
  • dna damage response
  • preterm birth
  • gene expression
  • genome wide analysis
  • pregnancy outcomes