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Fetal Diagn Ther. 2017;41(4):258-264. doi: 10.1159/000448707. Epub 2016 Aug 26.

Cell-Free Placental DNA in Maternal Plasma in Relation to Placental Health and Function.

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Child and Family Research Institute, and Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, B.C., Canada.



While cell-free placental DNA (cfp-DNA) increases in response to certain pathological conditions, confounding variables, such as placental size, may also contribute to its release. Furthermore, the relationship between cfp-DNA and maternal serum proteins has not been well investigated.


To analyze plasma cfp-DNA levels and correlate with measurable placental parameters, maternal serum proteins, or pathologic conditions reflecting placental dysfunction.


Methylated fraction of RASSF1A was quantified in maternal plasma as a measure of cfp-DNA in a cohort of 86 pregnant women.


Placental dimensions or weight had no impact on cfp-DNA levels in noncomplicated pregnancies (n = 63). However, an association between β-hCG and cfp-DNA levels (p = 0.0012) was detected. Complications occurred in 23 pregnancies including chromosomal abnormalities, gestational hypertension, intrauterine growth restriction, and preterm birth. There was overall a skewed distribution (<-1 SD or >1 SD from mean) for cfp-DNA in the abnormal group, although due to the small number of samples for each pathology, we provide only descriptive data to assess possible trends in cfp-DNA variation.


While cfp-DNA levels outside of the normal range may reflect placental distress, this relationship may be masked by a number of physiological confounders. The independence of cfp-DNA from β-hCG levels commonly assessed in pregnancy need to be further addressed.


Cell-free DNA; Intrauterine growth restriction; Preeclampsia; Pregnancy; Prenatal screening; Preterm birth

[Indexed for MEDLINE]

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