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Licensed Unlicensed Requires Authentication Published by De Gruyter June 7, 2019

Nearly half of all severe fetal anomalies can be detected by first-trimester screening in experts’ hands

  • Frank C.-K. Chen ORCID logo , Alexandra Bacovsky , Michael Entezami and Wolfgang Henrich EMAIL logo



To evaluate the detection rate of severe fetal anomalies at the first-trimester screening (FTS) and, vice versa, to evaluate the follow-up of pathological results at FTS at the time of mid-trimester screening (MTS) and throughout pregnancy and delivery in a partially selected population of low-risk pregnancies.


We conducted a prospective study on the detection of severe fetal anomalies at routine FTS in 9891 pregnant women with 10,294 fetuses between 11 + 0 and 13 + 6 weeks of gestation. The findings of FTS were compared to the results of MTS and pregnancy and neonatal outcomes. Only cases with severe fetal anomalies were taken for statistical analysis in this study.


There were 232 cases of fetal anomaly altogether. At the time of FTS, sonographic anomalies were diagnosed in 113 cases and further ultrasound controls arranged. In four cases, fetal anomaly was not confirmed by MTS; in the remaining 109 cases, the sonographic anomaly seen at FTS was confirmed at MTS and in the course of pregnancy with a resulting sensitivity for fetal malformation at FTS of 47.8%, a specificity of 99.96%, a positive predictive value of 96.5% and a negative predictive value of 98.8%.


FTS can detect almost half of all severe fetal anomalies at an early stage of pregnancy with positive predictive values of 90% and more. Sensitivities varied depending on the organ system and reached the highest figures for anomalies of the heart, the abdomen, the spine and the skeletal system.

Corresponding author: Prof. Dr. med. Wolfgang Henrich, Klink für Geburtsmedizin, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Tel.: +49 30 450 564072

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2018-12-31
Accepted: 2019-05-09
Published Online: 2019-06-07
Published in Print: 2019-08-27

©2019 Walter de Gruyter GmbH, Berlin/Boston

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