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Systematic review of first trimester ultrasound screening in detecting fetal structural anomalies and factors affecting screening performance.

Karim, JN; Roberts, NW; Salomon, LJ; Papageorghiou, AT (2017) Systematic review of first trimester ultrasound screening in detecting fetal structural anomalies and factors affecting screening performance. Ultrasound in Obstetrics & Gynecology, 50 (4). pp. 429-441. ISSN 1469-0705 https://doi.org/10.1002/uog.17246
SGUL Authors: Papageorghiou, Aris

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Abstract

OBJECTIVES: To determine the sensitivity and specificity of first trimester ultrasound for the detection of fetal abnormalities; and to establish which factors might impact this screening. METHODS: Systematic review and meta-analysis of all relevant publications assessing the diagnostic accuracy of first trimester 2D (transabdominal and transvaginal) ultrasound in the detection of congenital fetal anomalies prior to 14 weeks gestation was performed. The reference standard used was the detection of abnormalities at birth or postmortem. Factors that may impact detection rates were evaluated including population characteristics, gestation, healthcare setting, ultrasound modality, use of an anatomical checklist for first trimester anomaly detection and what types of malformations were included in the study. In an effort to reduce the impact of study heterogeneity on results of the meta-analysis, data from the studies were analyzed within subgroups of major anomalies versus all types of anomalies; and low risk / unselected populations versus high risk populations. RESULTS: An initial electronic search identified 2,225 citations, from which a total of 30 relevant studies, published between 1991 and 2015, were selected for inclusion. For low risk or unselected populations (19 studies, 115,731 fetuses) the pooled estimate for detection of major abnormalities was 46.10% (95% C.I. 36.88-55.46). The detection rate for all abnormalities in low risk or unselected populations was 32.35% (95% C.I. 22.45-43.12), in 14 studies (97,976 fetuses); while the detection rate in high risk populations for the presence of all types of anomalies (six studies, 2,841 fetuses) was 61.18% (95% C.I. 37.71-82.19). Of the factors examined impacting detection rates there was a statistically significant relationship between the use of an anatomical protocol during first trimester anomaly screening and sensitivity for the detection of fetal anomalies in all subgroups (P < 0.0001). CONCLUSION: Detection rates for first trimester anomalies range from 32% in low risk, to over 60% in high risk groups. This demonstrates that first trimester ultrasound has the potential to identify a large proportion of fetuses affected with structural anomalies. The use of a standardized anatomical protocol improves the sensitivity of first trimester ultrasound screening for all anomalies and major anomalies in populations of varying risk. The development and introduction of international protocols with standard anatomical views should be undertaken, in order to optimize rates of first trimester anomaly detection.

Item Type: Article
Additional Information: This is the peer reviewed version of the following article: Karim, J. N., Roberts, N. W., Salomon, L. J. and Papageorghiou, A. T. (2016), Systematic review of first trimester ultrasound screening in detecting fetal structural anomalies and factors affecting screening performance. Ultrasound Obstet Gynecol, 50: 429–441., which has been published in final form at http://dx.doi.org/10.1002/uog.17246 . This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Keywords: First trimester, congenital abnormalities, fetal anomalies, prenatal diagnosis, prenatal screening, ultrasound, First trimester, congenital abnormalities, fetal anomalies, prenatal diagnosis, prenatal screening, ultrasound, Obstetrics & Reproductive Medicine, 1114 Paediatrics And Reproductive Medicine
SGUL Research Institute / Research Centre: Academic Structure > Institute of Medical & Biomedical Education (IMBE)
Academic Structure > Institute of Medical & Biomedical Education (IMBE) > Centre for Clinical Education (INMECE )
Journal or Publication Title: Ultrasound in Obstetrics & Gynecology
ISSN: 1469-0705
Language: ENG
Dates:
DateEvent
3 October 2017Published
22 August 2016Published Online
5 August 2016Accepted
Publisher License: Publisher's own licence
PubMed ID: 27546497
Go to PubMed abstract
URI: http://openaccess.sgul.ac.uk/id/eprint/108326
Publisher's version: https://doi.org/10.1002/uog.17246

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