Anticoagulation use is associated with lower fetal fraction and more indeterminate results

Maternal anticoagulation use may increase indeterminate result rates on cell-free DNA (cfDNA) based screening, but existing studies are confounded by inclusion of individuals with autoimmune disease, which alone is associated with indeterminate results. Changes in chromosome level Z-scores are propo...

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Bibliographic Details
Published in:American journal of obstetrics and gynecology 2024-01, Vol.230 (1), p.95.e1-95.e10
Main Authors: SHREE, Raj, MACKINNON, Hayley J., HANNAN, Joely, KOLAROVA, Teodora K., REICHEL, Jonathan, LOCKWOOD, Christina M.
Format: Article
Language:English
Subjects:
Aneuploidy
Anticoagulants - therapeutic use
Anticoagulation
aspirin
Aspirin - therapeutic use
Autoimmune Diseases
cell-free DNA
Cell-Free Nucleic Acids
Female
fetal fraction
Heparin
Humans
indeterminate results
non-invasive prenatal screening
Pregnancy
Prenatal Diagnosis - methods
Retrospective Studies
Z-scores
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Summary:Maternal anticoagulation use may increase indeterminate result rates on cell-free DNA (cfDNA) based screening, but existing studies are confounded by inclusion of individuals with autoimmune disease, which alone is associated with indeterminate results. Changes in chromosome level Z-scores are proposed by others as a reason for indeterminate results, but the etiology of this is uncertain. We evaluated differences in fetal fraction, indeterminate result rate, and total cfDNA concentration in individuals on anticoagulation without autoimmune disease compared to controls undergoing non-invasive prenatal screening (NIPS). Secondly, using a nested case-control design, we evaluated differences in fragment size, GC content, and Z-scores to evaluate laboratory-level test characteristics. Retrospective single institution study of pregnant individuals undergoing cfDNA-based NIPS using low-pass whole genome sequencing between 2017 and 2021. Individuals with autoimmune disease, suspected aneuploidy, and cases where FF was not reported were excluded. Anticoagulation included heparin-derived products (unfractionated heparin, low molecular weight heparin), clopidogrel, and fondaparinux with a separate group for those on aspirin alone. An indeterminate result was defined as FF
ISSN:0002-9378
1097-6868
1097-6868
DOI:10.1016/j.ajog.2023.07.005