Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. Materials and Methods: US scans performed between 11 +0 and 13 +6 weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Results: Of all scans, 38.6% were dating scans and 61.4% were part of first-trimester screening. Anomal... Mehr ...

Verfasser: Bardi, Francesca
Smith, Eric
Kuilman, Maja
Snijders, Rosalinde J.M.
Bilardo, Caterina Maddalena
Dokumenttyp: Artikel
Erscheinungsdatum: 2018
Reihe/Periodikum: Fetal Diagnosis and Therapy ; volume 46, issue 1, page 12-19 ; ISSN 1015-3837 1421-9964
Verlag/Hrsg.: S. Karger AG
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29634059
Datenquelle: BASE; Originalkatalog
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Link(s) : http://dx.doi.org/10.1159/000490723

Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. Materials and Methods: US scans performed between 11 +0 and 13 +6 weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Results: Of all scans, 38.6% were dating scans and 61.4% were part of first-trimester screening. Anomalies were diagnosed prenatally in 200 (1.8%) fetuses; 81 (0.7%) were chromosomal and 119 (1.1%) were structural. Of all prenatally detected anomalies, 27% (n = 32) were detected at first-trimester scan, with a false-positive rate of 0.04%. All cases of anencephaly (n = 4), encephalocele (n = 2), exomphalos (n = 9), megacystis (n = 4), and limb reduction (n = 1) were diagnosed. First-trimester detection of gastroschisis and congenital heart defects was 67 and 19%, respectively. Conclusion: In a primary care setting, global fetal anatomical assessment at first-trimester scan without following a standardized protocol detects about 30% of all structural anomalies and most of the severe anomalies, with an extremely low false-positive rate. We hypothesize that additional training and use of a systematic protocol would improve early detection of structural anomalies.