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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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Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13
Maria Sobol1, Christos Aravidis1, Hugo Hessel2
1Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.
European Journal of Obstetrics, Gynecology, and Reproductive Biology
|October 11, 2024
Summary
Non-invasive prenatal testing (NIPT) can detect common trisomies and rare chromosomal abnormalities. This study highlights NIPT
Area of Science:
- Genetics
- Prenatal Diagnostics
- Genomic Medicine
Background:
- Non-invasive prenatal testing (NIPT) is increasingly utilized for fetal aneuploidy screening.
- Massive parallel sequencing (MPS)-based NIPT offers potential beyond common trisomies.
Purpose of the Study:
- To analyze NIPT data from Uppsala University Hospital (2017-2022).
- To explore the capacity of MPS-NIPT for detecting chromosomal abnormalities beyond common trisomies.
Main Methods:
- Maternal blood samples analyzed using Verifi NIPT and VeriSeq NIPT assays.
- Diagnostic confirmation via QF-PCR, SNP-array, and metaphase FISH on amniotic fluid.
Main Results:
- 125 out of 4532 NIPT tests (2.76%) indicated increased risk for trisomies 13, 18, 21, or sex chromosome aneuploidy.
- NIPT identified trisomy 13 in two cases, with confirmatory microarray revealing segmental duplication on chromosome 13 and complex rearrangements on chromosome 10 in one, and mosaic trisomy 13 in the other.
- Microarray detected chromosomal rearrangements not covered by NIPT in three cases with normal NIPT results.
Conclusions:
- NIPT demonstrated potential in detecting unusual chromosomal abnormalities, including copy number variations.
- Genome-wide NIPT may be valuable for screening a broader range of chromosomal abnormalities.
