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. 2025 Jun;65(6):682-693.
doi: 10.1002/uog.29224. Epub 2025 Apr 10.

Indications for fetal echocardiography: consensus and controversies among evidence-based national and international guidelines

V De Robertis #  1 , T Stampalija #  2   3 , A Z Abuhamad  4 , M Bosco  5 , R Chaoui  6 , C Formigoni  7 , A J Moon-Grady  8 , D Paladini  9 , G Pilu  10 , I G Ramezzana  11 , J Rychik  12   13 , P Volpe  1
Affiliations

Indications for fetal echocardiography: consensus and controversies among evidence-based national and international guidelines

V De Robertis et al. Ultrasound Obstet Gynecol. 2025 Jun.

Abstract

Objective: Fetal echocardiography (FE) is an indication-driven examination for pregnant women with a fetus at high risk for congenital heart disease (CHD). Several familial, maternal and fetal factors are reported to increase the risk of CHD. The aim of this study was to highlight the existing differences in recommended indications for FE among recently published guidelines and consensuses of experts.

Methods: Guidelines and expert consensuses published from January 2008 to October 2023 were identified through a systematic literature search. FE guidelines and consensus statements were excluded if not written in the English language and if indications for FE were not reported. All familial, maternal and fetal risk factors for CHD reported in the consensuses and guidelines were listed and comparisons were made between documents. The agreement or disagreement for each risk factor between guidelines and consensuses was classified as: complete agreement (all analyzed documents reported the same indication); partial agreement (all documents considered a risk factor as an indication, but with inconsistency in its definition); or complete disagreement (inconsistency between documents for the considered risk factor as an indication).

Results: Six guidelines and expert consensuses that met the inclusion criteria were identified. Overall, a total of 17 risk factors were identified as an indication for FE. Complete agreement was reached for 3/17 (17.6%) risk factors, all of which are fetal risk factors (suspected CHD at the anomaly scan, presence of major fetal extracardiac abnormality and non-immune hydrops fetalis). Partial agreement was recorded for 8/17 (47.1%) risk factors (family history of CHD, increased nuchal translucency, multiple gestation, maternal diabetes mellitus, maternal phenylketonuria, maternal infection, maternal autoimmune disease and autoantibody positivity, and teratogen exposure). Complete disagreement was recorded for 6/17 (35.3%) risk factors (inherited genetic disease associated with CHD, fetal genetic anomaly, suspected abnormality of heart rate or rhythm, first-trimester sonographic markers of CHD, abnormality of umbilical cord and venous system, and use of assisted reproductive technology).

Conclusions: Areas of controversy regarding which CHD risk factors warrant FE were greater in quantity than were the areas of consensus. An internationally standardized agreement would be valuable for physicians and guideline developers. For many risk factors, further evidence is needed to justify their use as an indication for FE. © 2025 International Society of Ultrasound in Obstetrics and Gynecology.

Keywords: congenital heart disease; fetal cardiac anomalies; prenatal diagnosis; risk factors.

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References

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