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Related Experiment Videos

Olga Žilina1, Kadri Rekker2,3, Lauris Kaplinski1

  • 1Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

Prenatal Diagnosis
|November 7, 2019
PubMed
Summary

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This study validated a whole-genome sequencing non-invasive prenatal testing (NIPT) method and NIPTmer software for detecting fetal aneuploidies. The NIPT method demonstrated high accuracy, supporting its integration into prenatal clinical care.

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Non-invasive prenatal testing (NIPT) is crucial for early detection of fetal chromosomal abnormalities.
  • Whole-genome sequencing offers a comprehensive approach for NIPT analysis.
  • Accurate aneuploidy detection software is essential for reliable NIPT results.

Purpose of the Study:

  • To validate a whole-genome sequencing-based NIPT laboratory method.
  • To assess the performance of the NIPTmer aneuploidy detection software.
  • To evaluate the potential integration of this NIPT pipeline into prenatal clinical care in Estonia.

Main Methods:

  • Analysis of 424 maternal blood samples using whole-genome sequencing.
  • Cell-free DNA extraction, library preparation, and massively parallel sequencing.

Related Experiment Videos

  • Aneuploidy detection using NIPTmer software based on k-mer counting.
  • Estimation of cell-free fetal DNA (cffDNA) fraction using SeqFF.

    • Main Results:

    • NIPTmer achieved 100% sensitivity for non-mosaic trisomy 21, 18, 13, and monosomy X.
    • A false-positive rate of 1.5% was observed (6/398), with specificities of 99.3% for trisomy 18 and 13.
    • One case of mosaic trisomy 18 was not detected.
    • Accurate aneuploidy detection was achieved even with low cffDNA levels (<4%).

    Conclusions:

    • The developed NIPT method, utilizing whole-genome sequencing and NIPTmer software, is highly accurate for aneuploidy screening.
    • This validated NIPT approach can be implemented as a universal primary screening test.
    • Integration with first-trimester ultrasound examination enhances fetal screening efficacy.