Department of Obstetrics and Gynaecology, Perinatology Clinic, Izmir Tepecik Training and Research Hospital, Health Sciences University, Izmir, Turkey.
Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
J Obstet Gynaecol. 2020 Aug;40(6):797-802. doi: 10.1080/01443615.2019.1671324. Epub 2019 Nov 26.
The aim of this study was to evaluate the maternal and foetal factors affect higher cell-free DNA (cfDNA) levels and to investigate a possible relationship between high cfDNA levels and adverse perinatal outcomes. From a total of 4594 women who underwent non-invasive prenatal testing from January 2016 to March 2018 in our hospital, 112 women had high levels of cfDNA, which was not appropriate for testing. Maternal characteristics and perinatal outcomes were compared between patients with high levels of cfDNA and normal levels of cfDNA. Patients with high levels of cfDNA had greater risks than patients with normal cfDNA levels of pregnancy complications but no statistically significant difference was found. Patients with high cfDNA levels had higher foetal death rates with a statistically significant difference (9.8% versus 1.8%, = .024). An increase in foetal death could be expected in patients with increased cfDNA levels; therefore, these patients should be carefully followed up during pregnancy.IMPACT STATEMENT Most studies about cfDNA levels are focussed on the foetal fraction. There are new arguments about maternal health and cfDNA. It is known that autoimmune diseases as systemic lupus erythematosus (SLE) and maternal obesity increase cell turnover. There are also clinical studies suggesting a relationship between low molecular weight heparin therapy and the amount of cfDNA. This is the first study evaluating the maternal and foetal biological factors affecting cfDNA concentrations and investigating the possible relationship between high cfDNA levels and adverse perinatal outcomes in patients with high levels of cfDNA compared to patients with normal levels of cfDNA. In the present study, it was found that an increase in foetal death could be expected in patients with higher cfDNA levels. If potential effects and underlying causes of increased cfDNA could be explained, cfDNA might be used as a biomarker for adverse perinatal outcomes.
本研究旨在评估影响游离胎儿 DNA（cfDNA）水平升高的母体和胎儿因素，并探讨高 cfDNA 水平与不良围产结局之间的可能关系。在我院 2016 年 1 月至 2018 年 3 月期间进行无创产前检测的 4594 名女性中，有 112 名女性的 cfDNA 水平较高，不适合进行检测。比较 cfDNA 水平升高的患者与 cfDNA 水平正常的患者的母体特征和围产结局。cfDNA 水平升高的患者发生妊娠并发症的风险大于 cfDNA 水平正常的患者，但差异无统计学意义。cfDNA 水平升高的患者胎儿死亡率较高，差异有统计学意义（9.8%比 1.8%，=0.024）。cfDNA 水平升高的患者可预期胎儿死亡增加；因此，这些患者在妊娠期间应密切随访。
陈述
大多数关于 cfDNA 水平的研究都集中在胎儿分数上。母体健康和 cfDNA 有新的争论。已知自身免疫性疾病如系统性红斑狼疮（SLE）和母体肥胖会增加细胞更替。也有临床研究表明低分子量肝素治疗与 cfDNA 量之间存在关系。这是第一项评估影响 cfDNA 浓度的母体和胎儿生物学因素的研究，并调查 cfDNA 水平升高的患者与 cfDNA 水平正常的患者相比，高 cfDNA 水平与不良围产结局之间的可能关系。在本研究中，发现 cfDNA 水平较高的患者可预期胎儿死亡增加。如果能解释 cfDNA 增加的潜在影响和潜在原因，cfDNA 可能被用作不良围产结局的生物标志物。
