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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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Updated: May 23, 2026

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

Published on: August 17, 2022

Noninvasive prenatal diagnosis empowered by high-throughput sequencing.

Rossa W K Chiu1, Y M Dennis Lo

  • 1Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences and Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China. rossachiu@cuhk.edu.hk.

Prenatal Diagnosis
|April 3, 2012
PubMed
Summary

Noninvasive prenatal diagnosis for fetal Down syndrome is now highly accurate. Massively parallel sequencing of cell-free fetal DNA in maternal plasma achieves 99% sensitivity and specificity for trisomy 21 detection.

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Related Experiment Videos

Last Updated: May 23, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

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

Published on: August 17, 2022

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Area of Science:

  • Genetics
  • Molecular Biology
  • Prenatal Diagnostics

Background:

  • Cell-free fetal DNA (cfDNA) in maternal plasma, discovered in 1997, provides a noninvasive source for fetal genetic analysis.
  • Noninvasive prenatal diagnosis of fetal chromosomal abnormalities was a long-standing challenge.

Purpose of the Study:

  • To evaluate the diagnostic efficacy of massively parallel sequencing of cfDNA for noninvasive prenatal diagnosis.
  • To assess the accuracy of detecting fetal trisomy 21 using maternal plasma DNA.

Main Methods:

  • Analysis of cell-free fetal DNA (cfDNA) in maternal plasma using massively parallel sequencing.
  • Quantification of chromosome 21 DNA molecules to detect increased representation in trisomy 21 pregnancies compared to euploid pregnancies.

Main Results:

  • Multicenter studies analyzed 305 trisomy 21 pregnancies and 2061 euploid pregnancies.
  • The sequencing-based method demonstrated 99% diagnostic sensitivity and 99% specificity for trisomy 21 detection.

Conclusions:

  • Massively parallel sequencing of maternal plasma DNA is a highly effective noninvasive method for fetal trisomy 21 diagnosis.
  • This approach has also been successfully applied to detect trisomy 18, trisomy 13, and other fetal genetic variations.