The Column Group, San Francisco, California, USA; email:
Eunice Kennedy Shriver National Institute of Child Health and Human Development and Section on Prenatal Genomics and Fetal Therapy, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Annu Rev Biomed Data Sci. 2023 Aug 10;6:397-418. doi: 10.1146/annurev-biodatasci-020722-094144. Epub 2023 May 17.
Prenatal screening using sequencing of circulating cell-free DNA has transformed obstetric care over the past decade and significantly reduced the number of invasive diagnostic procedures like amniocentesis for genetic disorders. Nonetheless, emergency care remains the only option for complications like preeclampsia and preterm birth, two of the most prevalent obstetrical syndromes. Advances in noninvasive prenatal testing expand the scope of precision medicine in obstetric care. In this review, we discuss advances, challenges, and possibilities toward the goal of providing proactive, personalized prenatal care. The highlighted advances focus mainly on cell-free nucleic acids; however, we also review research that uses signals from metabolomics, proteomics, intact cells, and the microbiome. We discuss ethical challenges in providing care. Finally, we look to future possibilities, including redefining disease taxonomy and moving from biomarker correlation to biological causation.
在过去的十年中，利用循环游离 DNA 测序进行产前筛查已经改变了产科护理，大大减少了像羊膜穿刺术这样的侵入性诊断程序，以用于治疗遗传疾病。尽管如此，对于子痫前期和早产等并发症，紧急护理仍然是唯一的选择，这两种并发症是最常见的产科综合征。非侵入性产前检测的进步扩大了精准医学在产科护理中的应用范围。在这篇综述中，我们讨论了朝着提供主动、个性化产前护理这一目标所取得的进展、挑战和可能性。重点介绍的进展主要集中在游离核酸上；然而，我们也回顾了利用代谢组学、蛋白质组学、完整细胞和微生物组学信号的研究。我们讨论了提供护理方面的伦理挑战。最后，我们展望未来的可能性，包括重新定义疾病分类学，从生物标志物相关性转变为生物学因果关系。
