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Archives of Gynecology and Obstetrics

Open Access 13-12-2023 | Trisomy 18 | Maternal-Fetal Medicine

Importance of a detailed anomaly scan after a cfDNA test indicating fetal trisomy 21, 18 or 13

Authors: Tobias Spingler, Jiri Sonek, Markus Hoopmann, Natalia Prodan, Gertruda Jonaityte, Tania Elger, Karl Oliver Kagan

Published in: Archives of Gynecology and Obstetrics

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Abstract

Objective

To investigate the effect of the presence or absence of fetal anomalies and soft markers diagnosed by ultrasound on positive predictive value (PPV) 21, 18 and 13 in pregnancies with a high-risk cfDNA result.

Methods

Retrospective study including singleton pregnancies with high-risk NIPT results for common trisomies followed by invasive testing. The cases were grouped by gestational age at the time of invasive testing and by the presence or absence of fetal abnormalities or soft markers. The ultrasound was considered abnormal if at least one major defect or a soft marker was detected.

Results

A total of 173 women were included. Median maternal and gestational age was 37.7 years and 14.0 weeks, respectively. CfDNA test result showed high-risk for trisomy 21 and trisomy 18 or 13 in 119 and 54 cases, respectively. The “pre-ultrasound” PPV for trisomy 21 and for trisomy 18 or 13 were 98.3% and 68.4%, respectively. In case of a high-risk result for trisomy 21 and no fetal anomalies, the PPV was 86.7% while it was 100% if there were anomalies or markers present. In the case of a high-risk result for trisomy 18 or 13, the PPV was 9.5% if the ultrasound examination was normal and 100% if the ultrasound examination was abnormal.

Conclusion

This study suggests that a detailed ultrasound examination performed after a cfDNA result that is high-risk for one of the common autosomal trisomies adds significantly to establishing an individualized risk assessment. This is particularly true in cases with a high-risk result for trisomies 18 or 13.
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Metadata
Title
Importance of a detailed anomaly scan after a cfDNA test indicating fetal trisomy 21, 18 or 13
Authors
Tobias Spingler
Jiri Sonek
Markus Hoopmann
Natalia Prodan
Gertruda Jonaityte
Tania Elger
Karl Oliver Kagan
Publication date
13-12-2023
Publisher
Springer Berlin Heidelberg
Published in
Archives of Gynecology and Obstetrics
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI
https://doi.org/10.1007/s00404-023-07311-2