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Obstet Gynecol. 2010 Sep;116(3):673-8. doi: 10.1097/AOG.0b013e3181ea2dd1.

Relationships between cell-free DNA and serum analytes in the first and second trimesters of pregnancy.

Author information

  • 1Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Tufts Medical Center, Boston, Massachusetts, USA.

Abstract

OBJECTIVE:

To assess the relationship between first- and second-trimester cell-free DNA levels and maternal serum screening markers.

METHODS:

First- and second-trimester residual maternal serum samples from 50 women were obtained. First-trimester (pregnancy-associated plasma protein A and beta-hCG) and second-trimester serum analytes (beta-hCG, alpha-fetoprotein, unconjugated estriol, and inhibin A) had been measured at the time of sample receipt. All fetuses were male as confirmed by birth records. Cell-free DNA was extracted and measured by real-time quantitative polymerase chain reaction amplification using glyceraldehyde phosphate dehydrogenase and DYS1 as markers of total DNA and fetal DNA, respectively. Determination of linear associations between first- and second-trimester serum markers and cell-free DNA levels using Pearson correlations was performed.

RESULTS:

Statistically significant correlations between first-trimester pregnancy-associated plasma protein A multiples of the median and both total (r=0.36, P=.016) and fetal (r=0.41, P=.006) DNA in the first trimester were observed. There were no significant correlations between first-trimester serum human chorionic gonadotropin or any second-trimester serum marker with DNA levels.

CONCLUSION:

Correlation between serum pregnancy-associated plasma protein A and first-trimester circulating cell-free fetal and total DNA levels is a novel finding. Pregnancy-associated plasma protein A is a glycoprotein of placental origin, and its correlation to cell-free fetal DNA in maternal serum suggests a common tissue origin through apoptosis of placental cells. However, because pregnancy-associated plasma protein A and cell-free DNA were only marginally correlated and cell-free DNA can be reliably detected in the first trimester, the addition of cell-free DNA to serum screening strategies may be helpful in predicting adverse pregnancy outcome.

LEVEL OF EVIDENCE:

II.

PMID:
20733451
[PubMed - indexed for MEDLINE]
PMCID:
PMC2975594
Free PMC Article
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