游离胎盘DNA：我们究竟了解多少？

Cell-free placental DNA: What do we really know?

作者信息

Yuen Natalie, Lemaire Melanie, Wilson Samantha L

机构信息

Department of Biochemistry and Biomedical Sciences, McMaster University, Hamilton, Ontario, Canada.

Department of Obstetrics and Gynecology, McMaster University, Hamilton, Ontario, Canada.

出版信息

PLoS Genet. 2024 Dec 9;20(12):e1011484. doi: 10.1371/journal.pgen.1011484. eCollection 2024 Dec.

DOI:10.1371/journal.pgen.1011484

PMID:39652523

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11627368/

Abstract

Cell-free placental DNA (cfpDNA) is present in maternal circulation during gestation. CfpDNA carries great potential as a research and clinical tool as it provides a means to investigate the placental (epi)genome across gestation, which previously required invasive placenta sampling procedures. CfpDNA has been widely implemented in the clinical setting for noninvasive prenatal testing (NIPT). Despite this, the basic biology of cfpDNA remains poorly understood, limiting the research and clinical utility of cfpDNA. This review will examine the current knowledge of cfpDNA, including origins and molecular characteristics, highlight gaps in knowledge, and discuss future research directions.

摘要

游离胎盘DNA（cfpDNA）在妊娠期存在于母体循环中。cfpDNA作为一种研究和临床工具具有巨大潜力，因为它提供了一种在整个妊娠期研究胎盘（表观）基因组的方法，而此前这需要进行侵入性胎盘采样程序。cfpDNA已在临床环境中广泛用于无创产前检测（NIPT）。尽管如此，cfpDNA的基本生物学仍知之甚少，限制了cfpDNA的研究和临床应用。本综述将探讨cfpDNA的现有知识，包括起源和分子特征，突出知识空白，并讨论未来的研究方向。