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

doi:10.1371/journal.pgen.1011484

Review

. 2024 Dec 9;20(12):e1011484.

doi: 10.1371/journal.pgen.1011484. eCollection 2024 Dec.

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

Natalie Yuen¹, Melanie Lemaire², Samantha L Wilson^{1

2}

Affiliations

¹ Department of Biochemistry and Biomedical Sciences, McMaster University, Hamilton, Ontario, Canada.
² Department of Obstetrics and Gynecology, McMaster University, Hamilton, Ontario, Canada.

PMID: 39652523
PMCID: PMC11627368
DOI: 10.1371/journal.pgen.1011484

Review

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

Natalie Yuen et al. PLoS Genet. 2024.

. 2024 Dec 9;20(12):e1011484.

doi: 10.1371/journal.pgen.1011484. eCollection 2024 Dec.

Authors

Natalie Yuen¹, Melanie Lemaire², Samantha L Wilson^{1

2}

Affiliations

¹ Department of Biochemistry and Biomedical Sciences, McMaster University, Hamilton, Ontario, Canada.
² Department of Obstetrics and Gynecology, McMaster University, Hamilton, Ontario, Canada.

PMID: 39652523
PMCID: PMC11627368
DOI: 10.1371/journal.pgen.1011484

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.

Copyright: © 2024 Yuen et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

**Fig 1. The current knowledge surrounding cfpDNA.**

**Fig 2. Placental development and anatomy.**
(A) Early invasion of the endometrium by trophoblasts during blastocyst implantation. (B) Chorionic villus and surrounding structures at the fetal–maternal interface.

See this image and copyright information in PMC

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References

1. Lo YD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al.. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485–487. doi: 10.1016/S0140-6736(97)02174-0 - DOI - PubMed
1. Karakas B, Qubbaj W, Al-Hassan S, Coskun S. Noninvasive digital detection of fetal DNA in plasma of 4-week-pregnant women following in vitro fertilization and embryo transfer. PLoS ONE. 2015;10(5):e0126501. doi: 10.1371/journal.pone.0126501 - DOI - PMC - PubMed
1. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008;105(42):16266–16271. doi: 10.1073/pnas.0808319105 - DOI - PMC - PubMed
1. Sun K, Jiang P, Chan KA, Wong J, Cheng YK, Liang RH, et al.. Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments. Proc Natl Acad Sci U S A. 2015;112(40):E5503–E5512. doi: 10.1073/pnas.1508736112 - DOI - PMC - PubMed
1. Ji L, Brkić J, Liu M, Fu G, Peng C, Wang YL. Placental trophoblast cell differentiation: physiological regulation and pathological relevance to preeclampsia. Mol Aspects Med. 2013;34(5):981–1023. doi: 10.1016/j.mam.2012.12.008 - DOI - PubMed

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[1] Lo YD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al.. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485–487. doi: 10.1016/S0140-6736(97)02174-0 - DOI - PubMed

[2] Lo YD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al.. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485–487. doi: 10.1016/S0140-6736(97)02174-0 - DOI - PubMed

[3] Karakas B, Qubbaj W, Al-Hassan S, Coskun S. Noninvasive digital detection of fetal DNA in plasma of 4-week-pregnant women following in vitro fertilization and embryo transfer. PLoS ONE. 2015;10(5):e0126501. doi: 10.1371/journal.pone.0126501 - DOI - PMC - PubMed

[4] Karakas B, Qubbaj W, Al-Hassan S, Coskun S. Noninvasive digital detection of fetal DNA in plasma of 4-week-pregnant women following in vitro fertilization and embryo transfer. PLoS ONE. 2015;10(5):e0126501. doi: 10.1371/journal.pone.0126501 - DOI - PMC - PubMed

[5] Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008;105(42):16266–16271. doi: 10.1073/pnas.0808319105 - DOI - PMC - PubMed

[6] Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008;105(42):16266–16271. doi: 10.1073/pnas.0808319105 - DOI - PMC - PubMed

[7] Sun K, Jiang P, Chan KA, Wong J, Cheng YK, Liang RH, et al.. Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments. Proc Natl Acad Sci U S A. 2015;112(40):E5503–E5512. doi: 10.1073/pnas.1508736112 - DOI - PMC - PubMed

[8] Sun K, Jiang P, Chan KA, Wong J, Cheng YK, Liang RH, et al.. Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments. Proc Natl Acad Sci U S A. 2015;112(40):E5503–E5512. doi: 10.1073/pnas.1508736112 - DOI - PMC - PubMed

[9] Ji L, Brkić J, Liu M, Fu G, Peng C, Wang YL. Placental trophoblast cell differentiation: physiological regulation and pathological relevance to preeclampsia. Mol Aspects Med. 2013;34(5):981–1023. doi: 10.1016/j.mam.2012.12.008 - DOI - PubMed

[10] Ji L, Brkić J, Liu M, Fu G, Peng C, Wang YL. Placental trophoblast cell differentiation: physiological regulation and pathological relevance to preeclampsia. Mol Aspects Med. 2013;34(5):981–1023. doi: 10.1016/j.mam.2012.12.008 - DOI - PubMed

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

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

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