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Updated: Jan 13, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Copy-Number Profiling and Methylation-Based Tumor Typing during Prenatal Cell-Free DNA Screening.

Stefania Tuveri¹, Tatjana Jatsenko¹, Dhanya Sudhakaran¹

¹Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium.

Clinical Chemistry

|January 7, 2026

Summary

This summary is machine-generated.

New prenatal screening using cell-free DNA (cfDNA) can identify fetal chromosomal issues and maternal cancer-derived aneuploidies. This methylation-aware approach improves diagnostic accuracy and cancer management during pregnancy.

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Area of Science:

Genomics
Molecular Biology
Oncology

Background:

Prenatal cell-free DNA (cfDNA) screening typically detects fetal chromosomal abnormalities.
Incidental findings of aneuploidies from other tissues, like maternal cancer, complicate prenatal diagnosis, causing anxiety and lengthy investigations.

Purpose of the Study:

To develop an expedited method for identifying the origin of copy-number aberrations detected during prenatal cfDNA screening.
To guide clinical management for pregnant individuals with profiles suggestive of maternal malignancy.

Main Methods:

Developed a novel prenatal screening pipeline integrating methylation analysis and aneuploidy detection.
Utilized enzymatic conversion of plasma cfDNA to identify methylated cytosines during sequencing.
Employed a methylation-based deconvolution algorithm (MetDecode) with a cell-type-specific methylome atlas to predict tissue of origin.

Main Results:

Aneuploidy profiling of enzymatically converted cfDNA achieved accuracy comparable to conventional prenatal cfDNA screening for both placental and cancer-derived aneuploidies.
The MetDecode algorithm correctly identified the tumor origin in 91.67% of pregnant women with a tumor fraction exceeding 3%.

Conclusions:

Methylome and aneuploidy-aware cfDNA screening significantly enhances diagnostic processes during pregnancy.
This approach accurately pinpoints the origin of aneuploidies, improving cancer detection and management in expectant mothers.