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Fetal-specific hypermethylated RASSF1A quantification in pregnancy
Seema Saraswathy1, Kavita Sahai2, Devendra Arora3
1a Base Hospital, Delhi Cantt, School of Medicine & Paramedical Health Sciences, Guru Gobind Singh Indraprastha University , Delhi , India.
Summary
Cell free fetal DNA (cffDNA) levels, marked by hypermethylated RASSF1A, increase with gestational age in pregnant women. This fetal DNA marker also correlates with maternal Body Mass Index (BMI).
Area of Science:
- Reproductive Biology
- Molecular Genetics
- Biochemistry
Background:
- Cell-free fetal DNA (cffDNA) in maternal plasma offers non-invasive insights into fetal well-being.
- Epigenetic markers, such as hypermethylated RASSF1A, provide fetal-specific DNA signatures.
- Understanding cffDNA dynamics in normal pregnancy is crucial for identifying deviations indicative of complications.
Purpose of the Study:
- To quantify fetal-specific hypermethylated RASSF1A in maternal plasma during normal pregnancy.
- To assess the relationship between cffDNA levels and maternal factors: age, height, pre-pregnancy weight, and BMI.
- To establish normative data for hypermethylated RASSF1A across different gestational ages.
Main Methods:
- Hundred normal pregnant women were recruited and stratified into five gestational age groups (21-40 weeks).
- Maternal plasma DNA was extracted and digested using the methylation-sensitive restriction enzyme BstUI.
- Quantitative Real-Time Polymerase Chain Reaction (qRT-PCR) was employed to quantify fetal-specific cffDNA (hypermethylated RASSF1A).
Main Results:
- Hypermethylated RASSF1A concentrations significantly increased with advancing gestational age (r=0.899, p<0.001).
- A positive correlation was observed between cffDNA levels and maternal Body Mass Index (BMI) (r=0.217, p<0.05).
- No significant correlation was found between cffDNA levels and maternal age, height, or pre-pregnancy weight.
Conclusions:
- This study demonstrates a clear gestational age-dependent increase in hypermethylated RASSF1A in maternal plasma among Indian women.
- The findings support the potential utility of hypermethylated RASSF1A as a fetal-specific epigenetic marker for monitoring pregnancy.
- Future research can leverage these findings for early diagnosis of placental pathologies through analysis of hypermethylated RASSF1A.

