ArticlePrenatal diagnosis2011
Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens.
Article in Prenatal diagnosis, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Experience of copy number variation sequencing applied in spontaneous abortion.BMC medical genomics · 2024Article
- Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology.Molecular cytogenetics · 2016Article
- Aneusomy detection with Karyolite-Bac on Beads® is a cost-efficient and high throughput strategy in the molecular analyses of the early pregnancy conception losses.Molecular cytogenetics · 2015Article
- Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy.Molecular cytogenetics · 2014Article
- Double and multiple chromosomal aneuploidies in spontaneous abortions: A single institutional experience.Journal of human reproductive sciencesArticle
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Authors and funding
6 authors.
Funding
Abstract
objectiveCytogenetic analysis of spontaneous abortions is frequently complicated by culture failure and maternal cell contamination (MCC). The objective of the study is to demonstrate that multiplex fluorescence in situ hybridization (FISH) can increase the yield and accuracy of karyotypes from spontaneous abortion specimens.
methodA multiplex interphase FISH probe set was used to analyze two sample sets. (1) Uncultured tissues from 153 abortions samples with a normal 46,XX karyotype and (2) a series of 171 samples that either failed to grow or were contaminated. MCC studies were performed on 70 cultures where both karyotype and FISH indicated a normal female karyotype.
resultsFISH showed 31% (53/171) of the specimens karyotyped as 46,XX were either male or abnormal; 23% (40/118) of these specimens were found to have an abnormal chromosome complement. In specimens with culture failure, FISH showed an abnormal complement in 44.4% (68/153). MCC studies showed 41.49% (29/70) cultures of maternal origin, 45.7% (32/70) fetal, 11.4% (8/70) a maternal/fetal mixture and 1 diploid mole.
conclusionResults demonstrate the utility of a simple FISH panel in increasing the detection rate of abnormal karyotypes. They also reveal the high frequency of overgrowth of maternal cells in cultured specimens from villi after embryonic loss.
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