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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study
Michelle Bellair1, Elisabete Amaral1, Mason Ouren1
1Luna Genetics, Houston, Texas, USA.
Prenatal Diagnosis
|February 27, 2024
Summary
This study assessed a noninvasive prenatal genetic test using trophoblasts from maternal blood. The test showed promise in detecting aneuploidy and copy number variations, aligning with diagnostic methods.
Area of Science:
- Genetics
- Molecular Biology
- Obstetrics
Background:
- Noninvasive prenatal testing (NIPT) offers a safer alternative to invasive procedures for fetal genetic analysis.
- Cell-based NIPT utilizes fetal cells from maternal circulation, but isolation and analysis present challenges.
Purpose of the Study:
- To clinically evaluate a novel cell-based noninvasive prenatal genetic test.
- To assess the test's capability in detecting copy number variations (CNVs) using single trophoblasts.
Main Methods:
- Maternal blood samples were collected from 401 individuals (8-22 weeks gestation).
- Nucleated cells were enriched for cytokeratin-positive/CD45-negative trophoblasts.
- Single trophoblasts underwent next-generation sequencing for copy number analysis.
Main Results:
- The test demonstrated concordance with chorionic villus sampling (CVS) and amniocentesis in detecting aneuploidy and deletions/duplications.
- Placental mosaicism was observed in 4.6% of cases.
- Seven low-risk pregnancies showed aneuploidy or likely pathogenic deletions/duplications.
Conclusions:
- The cell-based noninvasive prenatal genetic test shows potential for detecting fetal genetic abnormalities.
- Further studies with larger sample sizes are needed to statistically validate test performance.
