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Audit of the first > 7500 noninvasive prenatal aneuploidy tests in a Swiss genetics center

Bajka, Anahita; Bajka, Michael; Chablais, Fabian; Burkhardt, Tilo (2022). Audit of the first > 7500 noninvasive prenatal aneuploidy tests in a Swiss genetics center. Archives of Gynecology and Obstetrics, 305(5):1185-1192.

Abstract

Objectives

Noninvasive prenatal testing (NIPT) is actually the most accurate method of screening for fetal chromosomal aberration (FCA). We used pregnancy outcome record to evaluate a complete data set of single nucleotide polymorphism-based test results performed by a Swiss genetics center.
Materials and methods

The Panorama® test assesses the risk of fetal trisomies (21, 18 and 13), gonosomal aneuploidy (GAN), triploidy or vanishing twins (VTT) and five different microdeletions (MD). We evaluated all 7549 test results meeting legal and quality requirements taken in women with nondonor singleton pregnancies between April 2013 and September 2016 classifying them as high or low risk. Follow-up ended after 9 months, data collection 7 months later.
Results

The Panorama® test provided conclusive results in 96.1% of cases, detecting 153 FCA: T21 n = 76, T18 n = 19, T13 n = 15, GAN n = 19, VTT n = 13 and MD n = 11 (overall prevalence 2.0%). Pregnancy outcome record was available for 68.6% of conclusive laboratory results, including 2.0% high-risk cases. In this cohort the Panorama® test exhibited 99.90% sensitivity for each trisomy; specificity was 99.90% for T21, 99.98% for T18 and 99.94% for T13. False positive rate was 0.10% for T21, 0.02% for T18 and 0.06% for T13.
Conclusion

SNP-based testing by a Swiss genetics center confirms the expected accuracy of NIPT in FCA detection.

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Obstetrics
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Obstetrics and Gynecology
Uncontrolled Keywords:Obstetrics and Gynaecology, General Medicine
Language:English
Date:May 2022
Deposited On:15 Mar 2022 09:42
Last Modified:26 Oct 2024 01:39
Publisher:Springer
ISSN:0932-0067
OA Status:Hybrid
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1007/s00404-021-06203-7
PubMed ID:34533609
Project Information:
  • Funder: Universität Zürich
  • Grant ID:
  • Project Title:
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