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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

88.0K
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 6, 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

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Noninvasive prenatal diagnosis using next-generation sequencing.

Liang Xu1, Rui Shi

  • 1Department of Obstetrics and Gynecology, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China.

Gynecologic and Obstetric Investigation
|November 7, 2013
PubMed
Summary
This summary is machine-generated.

Noninvasive prenatal testing using maternal circulating nucleic acids offers a safer alternative to invasive procedures for detecting fetal genetic mutations. Next-generation sequencing enhances the screening of genetic diseases during pregnancy.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Obstetrics

Background:

  • Prenatal diagnosis is crucial for identifying genetic mutations in expectant parents.
  • Invasive diagnostic methods like amniocentesis carry risks, including fetal miscarriage.
  • There is a clinical need for safer, noninvasive prenatal diagnostic techniques.

Purpose of the Study:

  • To review advancements in noninvasive prenatal diagnosis.
  • To highlight the use of maternal circulating nucleic acids as a diagnostic sample.
  • To emphasize the role of next-generation sequencing in screening for genetic diseases.

Main Methods:

  • Review of technical advancements in noninvasive prenatal diagnosis.
  • Analysis of maternal circulating nucleic acids for genetic information.
  • Application of next-generation sequencing for genetic disease screening.

Main Results:

  • Maternal circulating nucleic acids provide a viable noninvasive sample for prenatal genetic testing.
  • Next-generation sequencing significantly improves the efficiency and scope of genetic disease screening.
  • Noninvasive methods reduce the risks associated with traditional prenatal diagnostic procedures.

Conclusions:

  • Noninvasive prenatal diagnosis using maternal nucleic acids is a promising advancement.
  • Next-generation sequencing is a key technology for the effective screening of fetal genetic conditions.
  • Developing and implementing noninvasive prenatal testing is essential for improving maternal and fetal safety.