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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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Expanding the scope of non-invasive prenatal screening
Kate Elizabeth Stanley1, Bernard Thienpont2, Joris Robert Vermeesch3
1Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Nature Genetics
|October 16, 2025
Summary
Non-invasive prenatal screening using cell-free DNA (cfDNA) now detects more than common fetal aneuploidies. Emerging epigenetic and RNA biomarkers predict pregnancy complications, shifting obstetric care to prevention.
Area of Science:
- Genomics
- Epigenetics
- Biomarker Discovery
Background:
- Non-invasive prenatal screening (NIPS) commonly uses maternal circulating cell-free DNA (cfDNA) for fetal aneuploidies.
- cfDNA contains both maternal and fetal genetic material, along with epigenetic information.
Purpose of the Study:
- To explore genetic, epigenetic, and fragmentomic cfDNA features beyond aneuploidies for maternal and fetal health insights.
- To highlight cell-free RNA (cfRNA) as a biomarker for predicting pregnancy complications.
Main Methods:
- Analysis of cfDNA genetic content.
- Assessment of cfDNA epigenetic features and fragmentomics.
- Evaluation of cfRNA for biomarker potential.
Main Results:
- Genetic analysis of cfDNA can reveal information beyond common aneuploidies.
- Epigenetic and fragmentomic cfDNA features show promise as health and disease biomarkers.
- cfDNA and cfRNA analyses enable early prediction of pregnancy complications like preeclampsia and gestational diabetes.
Conclusions:
- Expanding NIPS scope beyond aneuploidies offers significant insights into maternal and fetal health.
- cfDNA and cfRNA analyses are transforming obstetric care towards preventive, personalized medicine.
- This approach promises to shift obstetric care from reactive to proactive management.
