Predicting Pregnancy Outcomes Through DNA Screening

Understanding Cell-Free DNA/RNA Screening as Possible Predictors of Adverse Pregnancy Outcomes

Prenatal cell-free DNA (cfDNA) screening, also known as noninvasive prenatal screening, is a method in which maternal blood is analyzed to detect certain chromosomal abnormalities in a fetus. To date, limited efforts have applied this method to detect placental dysfunction, which could indicate risk for an adverse pregnancy outcome. Researchers supported by NICHD through the Human Placenta Project (HPP) are studying whether cell-free DNA screening and related techniques can successfully identify potential placental-related factors that could accurately predict select adverse pregnancy outcomes.

Analyzing DNA and RNA Material From Maternal and Umbilical Cord Blood

In one study, researchers investigated cell-free DNA and RNA from maternal and umbilical cord blood samples. The team developed a novel technique involving known tissue-of-origin DNA methylation profiles for their analysis.

The research team found that during the first trimester, placenta-specific DNA increased before the subsequent development of gestational diabetes, a condition that may harm the health of the pregnant person and the fetus unless it is detected and managed proactively. Elevated placenta-specific DNA was observed earlier in pregnancy than when women are typically tested for gestational diabetes using standard metabolic markers.

Analyzing Cell-Free RNA to Detect Abnormal Pregnancy

The same research team used cell-free RNA sequencing to conduct further analysis and identified 71 differentially expressed genes early in pregnancy that were later associated with adverse pregnancy outcomes. The researchers concluded that analyzing placenta-specific cell-free nucleic acids during early gestation has the potential to predict adverse pregnancy outcomes prior to the emergence of these conditions’ characteristic clinical features.

Initial Research Implications

Detecting markers of gestational diabetes and adverse pregnancy outcomes in early pregnancy using this novel approach could foster early and appropriate intervention to support the health of the pregnant person and developing fetus. Future research may include larger multicenter clinical trials to determine whether these noninvasive approaches could be used during early pregnancy to improve broader prenatal testing that leads to improved outcomes.

Learn more about the team

Principal Investigator(s):

Learn more about the HPP-funded project:

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