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Related Experiment Video

Updated: May 15, 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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Successful noninvasive trisomy 18 detection using single molecule sequencing.

Jessica M E van den Oever1, Sahila Balkassmi, Lennart F Johansson

  • 1Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis (LDGA), Leiden University Medical Center, Leiden, The Netherlands.

Clinical Chemistry
|January 15, 2013
PubMed
Summary
This summary is machine-generated.

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Single molecule sequencing accurately detects fetal trisomy 18 noninvasively. However, this method showed low accuracy for trisomy 13 detection, indicating other factors influence results beyond GC bias.

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Noninvasive prenatal testing (NIPT) for fetal aneuploidies like trisomy 21 is highly accurate using massively parallel sequencing.
  • Previous NIPT methods for trisomy 18 and trisomy 13 showed reduced accuracy, potentially due to PCR-introduced guanine-cytosine (GC) bias.
  • Single molecule sequencing (SMS) minimizes GC bias, improving noninvasive detection of trisomy 21.

Purpose of the Study:

  • To evaluate the efficacy of SMS for noninvasive detection of fetal trisomy 18 and trisomy 13.
  • To assess if SMS can overcome limitations of previous NIPT approaches for these aneuploidies.

Main Methods:

  • SMS was performed on cell-free DNA from maternal plasma of 17 pregnancies from 11 weeks gestation.
  • Relative sequence tag density ratios were calculated against male control plasma.

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Last Updated: May 15, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Published on: August 17, 2022

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Published on: August 25, 2019

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
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Published on: March 29, 2017

  • Results were compared with prior karyotyping data.

    • Main Results:

    • SMS achieved 100% diagnostic sensitivity and specificity for trisomy 18 detection.
    • Low diagnostic sensitivity and specificity were observed for trisomy 13 detection.

    Conclusions:

    • SMS combined with relative sequence tag density analysis is effective for noninvasive trisomy 18 detection.
    • Noninvasive trisomy 13 detection accuracy was not achieved and appears influenced by factors beyond GC bias.