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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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Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples
Ron M McCullough1, Eyad A Almasri1, Xiaojun Guan1
1Clinical Science, Sequenom Laboratories, San Diego, California, United States of America.
Plos One
|October 8, 2014
Summary
Noninvasive prenatal testing (NIPT) using massively parallel sequencing is effective for detecting fetal aneuploidies like Trisomy 21. This large-scale study shows NIPT improves the standard of care for high-risk pregnancies.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Sequenom Laboratories pioneered massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies.
- The laboratory has amassed extensive clinical data from over 100,000 samples nationwide and internationally.
Purpose of the Study:
- To evaluate the laboratory performance of the MaterniT21 PLUS laboratory-developed test (LDT).
- To provide a comprehensive clinical picture of current NIPT assay performance.
Main Methods:
- Analysis of plasma samples from high-risk pregnancies (August 2012-June 2013).
- Testing for trisomies 13, 18, 21, and Y-chromosome DNA.
- Compilation and review of clinical data and patient outcomes.
Main Results:
- NIPT is typically performed around 15 weeks gestation in patients averaging 35.1 years old.
- Average turnaround time is 4.54 business days with a 1.3% not reportable rate.
- Positivity rates: Trisomy 21 (1.51%), Trisomy 18 (0.45%), Trisomy 13 (0.21%).
Conclusions:
- NIPT adoption has significantly increased, offering a less invasive option for aneuploidy screening.
- The test's accuracy and positivity rates align with clinical validations.
- NIPT demonstrates an improvement in the standard of care for high-risk prenatal diagnostics.
