The impact of maternal autoimmune disease on cell-free DNA test characteristics

Abstract

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What helps define outcomes in persistent uninterpretable non‐invasive prenatal testing: Maternal factors, fetal fraction or quality scores?

“…Autoimmune thyroid disorders (9.9%) were the most frequent, followed by antiphospholipid syndrome (6.3%) and systemic lupus erythematosus (SLE) (6.3%). The association between maternal autoimmune disease and persistent uninterpretable NIPT has been observed before and different mechanisms have been proposed 47,48 …”

“…The association between maternal autoimmune disease and persistent uninterpretable NIPT has been observed before and different mechanisms have been proposed. 47,48 Increased maternal cell destruction by the autoimmune disorder can increase circulating maternal cfDNA causing a decrease in FF. 49 In addition, in SLE patients, plasma DNA aberrations such as hypomethylation, shortening of DNA fragments and aberrant measured genomic representations (MGR) have been observed.…”

Factors affecting low fetal fraction in fetal screening with cell-free DNA in pregnant women: a systematic review and meta-analysis

“…Maternal factors mentioned in the literature include maternal age, maternal weight, gestational age, race [14,15], in vitro fertilization (IVF) [20], consumption of certain drugs [12,19], and maternal diseases, especially autoimmune diseases [24]. Some studies have reported free β-subunit of human chorionic gonadotropin (free β-hCG) and serum pregnancy-associated plasma protein (PAPP-A) levels to be positively correlated with FF [25,26].…”

Cell-free DNA Screening for Aneuploidy

“…[27][28][29] FF has been associated with many other biological factors, including low molecular weight heparin use, aspirin use, hypertension, pregestational diabetes, autoimmune disease, race, multiple gestation, smoking, conception, and white blood cell count. [30][31][32][33] At present, there is no consensus regarding how to manage patients at risk for low FF, other than counseling regarding the possibility of a failed test due to inadequate FF.…”