Background Pregnancy complications could lead to maternal and fetal morbidity and mortality. Early diagnosing and managing complications have been associated with good outcomes. The placenta was an important organ for development of pregnancy complications. Thus, non-invasive prenatal testing technologies could detect genetic variations, such as aneuploidies and sub-chromosomal copy number variations, reflecting defective placenta by maternal plasma cffDNAs. Maternal cffDNAs had been proved to derive from trophoblast cells of placenta. Results In order to find out the relationship between genetic variations and pregnancy complications, we reviewed NIPT results for subchromosomal copy number variations in a cohort of 3890 pregnancies without complications and 441 pregnancies with pregnancy complications including gestational diabetes mellitus (GDM), pregnancy-induced hypertension (PIH), preterm prelabor rupture of membranes (PPROM) and placenta implantation abnormalities (PIA). For GDMs, we identified three CNV regions containing some members of alpha- and beta-defensins, such as DEFA1, DEFA3, DEFB1. For PIHs, we found three duplication and one deletion region including Pcdhα, Pcdhβ, and Pcdhγ, known as protocadherins, which were complicated by hypertensive disorders. For PPROMs and PIAs, we identified one and two CNV regions, respectively. SFTPA2, SFTPD and SFTPA1, belonging to surfactant protein, was considered to moderated the inflammatory activation within the fetal extra-embryonic compartment, associated to duration of preterm prelabor rupture of fetal membranes, while MEF2C and TM6SF1 could be involved in trophoblast invasion and differentiation. Conclusions Our findings gave a clue to correlation between genetic variations of maternal cell-free DNAs and pregnancy complications.

中文翻译：

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无创产前检测揭示了与妊娠并发症相关的拷贝数变化。

背景 妊娠并发症可能导致母体和胎儿的发病率和死亡率。早期诊断和管理并发症与良好的结果相关。胎盘是妊娠并发症发生的重要器官。因此，非侵入性产前检测技术可以检测遗传变异，如非整倍体和亚染色体拷贝数变异，反映母体血浆 cffDNA 有缺陷的胎盘。已证明母体 cffDNA 来源于胎盘的滋养层细胞。结果 为了解遗传变异与妊娠并发症之间的关系，我们回顾了 NIPT 对 3890 例无并发症妊娠和 441 例有妊娠并发症的妊娠的亚染色体拷贝数变异结果，包括妊娠期糖尿病 (GDM)、妊娠性高血压 (PIH)、早产胎膜早破 (PPROM) 和胎盘植入异常（PIA）。对于 GDM，我们确定了三个 CNV 区域，其中包含一些 α 和 β 防御素成员，例如 DEFA1、DEFA3、DEFB1。对于 PIH，我们发现了三个重复和一个缺失区域，包括 Pcdhα、Pcdhβ 和 Pcdhγ，称为原钙粘蛋白，这些区域与高血压疾病有关。对于 PPROM 和 PIA，我们分别确定了一个和两个 CNV 区域。SFTPA2、SFTPD和SFTPA1，属于表面活性蛋白，被认为可以缓和胎儿胚胎外腔内的炎症激活，这与胎膜早产前破裂的持续时间有关，而 MEF2C 和 TM6SF1 可能参与滋养层的侵袭和分化。结论 我们的研究结果为母体游离 DNA 的遗传变异与妊娠并发症之间的相关性提供了线索。