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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

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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
Subjects: Q Science > QH Natural history
Q Science > QP Physiology
R Medicine > RB Pathology
Divisions: Faculty of Medicine > Warwick Medical School > Biomedical Sciences
Faculty of Medicine > Warwick Medical School
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
Dates:
DateEvent
26 October 2020Published
22 October 2020Accepted
Date of first compliant deposit: 15 December 2020
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:
Project/Grant IDRIOXX Funder NameFunder ID
UNSPECIFIEDTommy's Baby Charityhttp://dx.doi.org/10.13039/501100000306

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