Cytogenetic signatures of recurrent pregnancy losses.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
09
07
2020
revised:
31
08
2020
accepted:
01
10
2020
pubmed:
6
10
2020
medline:
20
11
2021
entrez:
5
10
2020
Statut:
ppublish
Résumé
To investigate the incidence of chromosomal abnormalities in the products of conception (POC) of patients with spontaneous miscarriages (SM) and with recurrent pregnancy losses (RPL) and to determine biological mechanisms contributing to RPL. During a 20-year period, 12 096 POC samples underwent classical chromosome analysis. Cytogenetic findings were compared between the SM and RPL cohorts. Analysis of RPL cohort has identified an increased incidence of inherited and de novo structural chromosome abnormalities, recurrent polyploid conceptions, and complex mosaic alterations. These abnormalities are the signature of genomic instability, posing a high risk of genetic abnormalities to offspring independent of maternal age. Predominance of male conceptions in the RPL cohort points toward an X-linked etiology and gender-specific intolerance for certain genetic abnormalities. 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.
Identifiants
pubmed: 33015842
doi: 10.1002/pd.5838
pmc: PMC8214890
mid: NIHMS1705639
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
70-78Subventions
Organisme : NIGMS NIH HHS
ID : R01 GM104007
Pays : United States
Informations de copyright
© 2020 John Wiley & Sons Ltd.
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