Non-invasive prenatal testing (NIPT): Europe’s first multicenter post-market clinical follow-up study validating the quality in clinical routine
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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.
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.
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%.
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.
KeywordsNIPT cfDNA Next-generation sequencing Screening for aneuploidies Trisomy 21
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.
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.
Compliance with ethical standards
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.
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 written consent was obtained from all individual participants included in the study.
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