Stanley Kate Elizabeth, Thienpont Bernard, Vermeesch Joris Robert
Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Laboratory for Functional Epigenetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Nat Genet. 2025 Oct 16. doi: 10.1038/s41588-025-02377-x.
Non-invasive prenatal screening has swiftly been implemented as a first- or second-tier test for common fetal aneuploidies and typically relies on sequencing maternal circulating cell-free DNA (cfDNA). This cfDNA comprises both the maternal and fetal genomes and the epigenetic features of its cells of origin. Here, we discuss how genetic findings beyond common fetal aneuploidies can provide important information about maternal and fetal health. Moreover, epigenetic and fragmentomic cfDNA features and cell-free RNA are emerging as powerful biomarkers of health and disease. We expound on the cfDNA and cell-free RNA analyses that have enabled first-trimester prediction of actionable pregnancy complications, such as preeclampsia, gestational diabetes, preterm birth, pregnancy-related immune-mediated disease activity and infections. This expanding scope of non-invasive prenatal screening promises to transform obstetric care from reactive to preventive, personalized medicine.
非侵入性产前筛查已迅速作为常见胎儿非整倍体的一线或二线检测方法实施，通常依赖于对母体循环游离DNA（cfDNA）进行测序。这种cfDNA包含母体和胎儿基因组及其起源细胞的表观遗传特征。在这里，我们讨论了常见胎儿非整倍体以外的遗传发现如何能够提供有关母体和胎儿健康的重要信息。此外，cfDNA的表观遗传和片段组学特征以及游离RNA正在成为健康和疾病的强大生物标志物。我们阐述了cfDNA和游离RNA分析，这些分析能够在孕早期预测可采取行动的妊娠并发症，如先兆子痫、妊娠期糖尿病、早产、妊娠相关免疫介导疾病活动和感染。非侵入性产前筛查范围的不断扩大有望将产科护理从反应性转变为预防性的个性化医疗。
