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Cell-free DNA in the investigation of miscarriage
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Colley, Emily, Devall, Adam J., Williams, Helen, Hamilton, Susan, Smith, Paul, Morgan, Neil V., Quenby, Siobhan, Coomarasamy, Arri and Allen, Stephanie (2020) Cell-free DNA in the investigation of miscarriage. Journal of Clinical Medicine, 9 (11). 3428. doi:10.3390/jcm9113428
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Official URL: http://dx.doi.org/10.3390/jcm9113428
Abstract
Approximately one in four pregnancies result in pregnancy loss, and ~50% of these miscarriages are caused by chromosomal abnormalities. Genetic investigations are recommended after three consecutive miscarriages on products of conception (POC) tissue. Cell-free DNA (cfDNA) has been utilised for prenatal screening, but very little work has been carried out in nonviable pregnancies. We investigated the use of cfDNA from maternal blood to identify chromosomal abnormalities in miscarriage. One hundred and two blood samples from women experiencing a first trimester miscarriage were collected and stored. The mean gestational age was 7.1 weeks (range: 5–11 weeks). In this research, samples without a genetic test result from POC were not analysed. CfDNA was extracted and analysed using a modified commercial genome-wide non-invasive prenatal test. No results were provided to the patient. In 57 samples, cytogenetic results from POC analysis were available. Chromosomal abnormalities were identified in 47% (27/57) of POC analyses, and cfDNA analysis correctly identified 59% (16/27) of these. In total, 75% (43/57) of results were correctly identified. The average cfDNA fetal fraction was 6% (2–19%). In conclusion, cfDNA can be used to detect chromosomal abnormalities in miscarriages where the ‘fetal fraction’ is high enough; however, more studies are required to identify variables that can affect the overall results.
| Item Type: | Journal Article | ||||||
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| Subjects: | Q Science > QH Natural history Q Science > QP Physiology R Medicine > RB Pathology |
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| Divisions: | Faculty of Medicine > Warwick Medical School > Biomedical Sciences Faculty of Medicine > Warwick Medical School |
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| Library of Congress Subject Headings (LCSH): | Miscarriage , DNA , Cytogenetics , Chromosome abnormalities | ||||||
| Journal or Publication Title: | Journal of Clinical Medicine | ||||||
| Publisher: | Royal College of Physicians | ||||||
| ISSN: | 2077-0383 | ||||||
| Official Date: | 26 October 2020 | ||||||
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| Volume: | 9 | ||||||
| Number: | 11 | ||||||
| Article Number: | 3428 | ||||||
| DOI: | 10.3390/jcm9113428 | ||||||
| Status: | Peer Reviewed | ||||||
| Publication Status: | Published | ||||||
| Access rights to Published version: | Open Access | ||||||
| RIOXX Funder/Project Grant: |
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