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Non-invasive prenatal testing (NIPT): Europe’s first multicenter post-market clinical follow-up study validating the quality in clinical routine

Archives of Gynecology and Obstetrics volume 296, pages 923–928 (2017)Cite this article

Abstract

Purpose

Non-invasive prenatal tests (NIPT) for the determination of fetal aneuploidies from maternal blood are firmly established in clinical routine. For the first time, the accuracy of an NIPT for the determination of trisomies 21, 18 and 13 in singleton pregnancies was assessed by means of a prospective German-wide multicenter post-market clinical follow-up study, to reliably evaluate the quality in clinical routine.

Methods

The study covered the indications for testing, the test results, the rate of invasive diagnostics and the pregnancy outcome. 2232 cases were tested for trisomy 21. Of these, 1946 cases were additionally examined for trisomy 18 and 13.

Results

Sensitivity and specificity for trisomy 21 (43/43) and for trisomy 13 (2/2) were 100%, for trisomy 18 the sensitivity was 80% (4/5) with a specificity of 99.8%. Three false-positive results for trisomy 18 were observed (FPR 0.15%). The no-call rate was 0.5%. In this subgroup, 27.3% (3/11) aneuploidies were diagnosed. The rate of invasive procedures was 2.6%.

Conclusion

NIPT provides a very high quality for the fetal trisomies 21, 13 and 18 in clinical routine. The results support the recommendation that NIPT should be offered after genetic counseling and only in conjunction with a qualified ultrasound examination.

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Acknowledgements

First and foremost, we would like to thank the pregnant women who contributed to this study. Furthermore, we would like to thank all participating physicians for recruiting of the patients and the excellent collaboration.

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Affiliations

  1. Department of Obstetrics and Prenatal Medicine, University Medical School Bonn, Sigmund-Freud-Str. 25, 53105, Bonn, Germany

    Anne Flöck, Ngoc-Chi Tu, Anna Rüland, Wolfgang Holzgreve, Ulrich Gembruch & Annegret Geipel

Authors
  1. Anne Flöck
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  2. Ngoc-Chi Tu
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  3. Anna Rüland
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  4. Wolfgang Holzgreve
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  5. Ulrich Gembruch
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  6. Annegret Geipel
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Contributions

AF contributed to protocol/project development, data collection or management, data analysis, manuscript writing/editing; NCT, data collection or management; AR, data collection or management; WH, protocol/project development, manuscript writing/editing; UG, manuscript writing/editing; AG, protocol/project development, manuscript writing/editing.

Corresponding author

Correspondence to Annegret Geipel.

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Funding

This study was funded by the company LifeCodexx. University Medical School Bonn received 40.000€.

Conflict of interest

All authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Human/animal rights statement

This article does not contain any studies with animals performed by any of the authors.

Informed consent

Informed written consent was obtained from all individual participants included in the study.

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Flöck, A., Tu, NC., Rüland, A. et al. Non-invasive prenatal testing (NIPT): Europe’s first multicenter post-market clinical follow-up study validating the quality in clinical routine. Arch Gynecol Obstet 296, 923–928 (2017). https://doi.org/10.1007/s00404-017-4517-3

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  • DOI: https://doi.org/10.1007/s00404-017-4517-3

Keywords

  • NIPT
  • cfDNA
  • Next-generation sequencing
  • Screening for aneuploidies
  • Trisomy 21