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Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
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Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma
Nilesh Dharajiya1, Tricia Zwiefelhofer2, Xiaojun Guan3
1Sequenom Laboratories, Clinical Lab, San Diego, California.
Current Protocols in Human Genetics
|January 21, 2015
Summary
Noninvasive prenatal testing (NIPT) rapidly advanced from detecting trisomy 21 to analyzing other chromosomal abnormalities and subchromosomal events. This overview explains the next-generation sequencing methods used in NIPT.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Noninvasive prenatal testing (NIPT) has significantly impacted prenatal diagnostics since its introduction in 2011.
- Initially developed for trisomy 21 detection, NIPT technology has evolved rapidly.
- The scope of NIPT now includes other autosomal and sex chromosome aneuploidies, as well as subchromosomal deletions and duplications.
Purpose of the Study:
- To provide a concise overview of noninvasive prenatal testing (NIPT).
- To explain the methodologies employed in NIPT utilizing next-generation sequencing.
- To highlight the technological advancements and expanded applications of NIPT.
Main Methods:
- Next-generation sequencing (NGS) is the core technology for NIPT.
- Analysis of cell-free DNA (cfDNA) circulating in maternal blood.
- Bioinformatic algorithms for detecting fetal chromosomal abnormalities.
Main Results:
- NIPT has demonstrated high accuracy in detecting various chromosomal aneuploidies.
- The technology has expanded to identify subchromosomal microdeletion and microduplication syndromes.
- Successful implementation of NIPT in clinical settings worldwide.
Conclusions:
- NIPT is a powerful example of rapid translation from scientific discovery to clinical application.
- The continuous advancement of NIPT enhances its utility in prenatal screening.
- Next-generation sequencing underpins the success and expanding capabilities of NIPT.
