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CC BY-NC-ND 4.0 · J Lab Physicians 2023; 15(04): 590-595
DOI: 10.1055/s-0043-1770066
Original Article

Clinical Experience with Noninvasive Prenatal Testing in Twin Pregnancy Samples at a Single Center in Germany

Bernd Eiben 
1   Amedes Institut für Labormedizin und Klinische Genetik Rhein/Ruhr, Essen, Germany
,
Ralf Glaubitz
2   Amedes Genetics, Hannover, Germany
,
Thomas Winkler 
1   Amedes Institut für Labormedizin und Klinische Genetik Rhein/Ruhr, Essen, Germany
,
Anna Teubert
2   Amedes Genetics, Hannover, Germany
,
Heike Borth
1   Amedes Institut für Labormedizin und Klinische Genetik Rhein/Ruhr, Essen, Germany
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Abstract

In this study we wanted to determine the performance of a paired-end sequencing-based noninvasive prenatal testing (NIPT) assay in the detection of common fetal trisomies in twin pregnancy samples. Samples from patients with a twin pregnancy were collected from at least 10 weeks of gestation and analyzed at a single prenatal center in Germany. Results of Anomaly Detected (i.e., high risk) or No Anomaly Detected (i.e., low risk) for trisomy 21, trisomy 18, or trisomy 13 were reported. Follow-up confirmatory outcomes were requested for all cases. A total of 1,658 patients with twin pregnancies submitted samples during the study period; only two of these samples failed resulting in a low failure rate of 0.12%. Of the remaining 1,656 cases, there were 1,625 (98.1%) low-risk and 31 (1.9%) high-risk NIPT samples in our cohort. Of these, follow-up information was available for 301 (18.5%) of the low-risk samples and 19 (61.3%) of the high-risk samples. All of the low-risk cases with follow-up were determined to be true negatives giving an estimated negative predictive value of 100%. Seventeen of the 19 high-risk samples with follow-up were true positives, resulting in an overall positive predictive value of 89.5%. Sensitivities of > 99.9% were noted for both trisomy 21 and trisomy 18, with high specificities of ≥ 99.7% observed for all three trisomies. In conclusion, our study showed strong performance of the NIPT assay in the detection of common fetal trisomies in twin pregnancy samples, with high sensitivities, specificities, and positive predictive values observed based on known clinical outcomes along with a low failure rate.

Keywords

noninvasive prenatal testing - twin pregnancy - trisomy - sensitivity - specificity - positive predictive value


Publication History

Article published online:
19 June 2023

© 2023. The Indian Association of Laboratory Physicians. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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