Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes.

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  • Additional Information
    • Source:
      Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE
    • Publication Information:
      Original Publication: Basel ; New York : S. Karger, c2002-
    • Subject Terms:
      Chromosome Aberrations* ; Karyotype*; Abortion, Spontaneous/*genetics ; Chorionic Villi/*metabolism ; Karyotyping/*methods ; Pregnancy Trimester, First/*genetics; Female ; Gene Rearrangement/genetics ; Gestational Age ; Humans ; Maternal Age ; Mosaicism ; Placenta/pathology ; Ploidies ; Pregnancy ; Sex Chromosomes/genetics ; Trisomy/genetics
    • Abstract:
      In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive chorionic villi samples were obtained before evacuation, and karyotypes were prepared after short-term culture (STC). In 603 samples, a long-term culture (LTC) was also performed. The overall and individual frequencies of the different types of chromosome abnormalities were established, including placental mosaicisms, and their relationship with maternal age and gestational weeks was assessed. An abnormal karyotype was detected in 70.3% of the samples. Single autosomal trisomy was the most frequent abnormality (64.6% of the abnormal cases), followed by triploidy (13.1%) and monosomy X (10.4%). Chromosome rearrangements were found in 5.2%, combined abnormalities in 8.9%, and placental mosaicism in 3.5% of the cases with STC and LTC performed. Individual trisomies behaved differently with respect to maternal age and intrauterine survival. Due to the combination of STC and LTC, our study offers reliable information on the incidence and type of chromosome abnormalities and placental mosaicism in miscarriages and contributes to define the cytogenetic implication in their etiology.
      (© 2017 S. Karger AG, Basel.)
    • Contributed Indexing:
      Keywords: Chorionic villi sampling; Chromosome abnormalities; First trimester miscarriages; Placental mosaicism
    • Publication Date:
      Date Created: 20170630 Date Completed: 20170929 Latest Revision: 20170929
    • Publication Date:
      20221213
    • Accession Number:
      10.1159/000477707
    • Accession Number:
      28662500