Early Detection of Severe Heart Disease in Fetuses at High Risk of Heart Disease

Study Overview
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Brief Summary
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The main objective of the work is to evaluate, in the French health care system, the performance of early ultrasound screening for severe heart disease between 11 and 14SA in high-risk populations.

Detailed Description
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Numerous studies have shown a link between increased nuchal translucency and heart disease. Although high-risk fetal populations are identified between 11 and 13 SA on clinical and biological criteria and by screening ultrasound (Echo T1), cardiac morphology analysis is routinely performed only during 2nd trimester fetal morphology ultrasound between 18 and 22 SA (EchoMorpho-T2) inducing a difficult wait for the couple. The development of increasingly efficient ultrasound probes has made it possible to explore the foetal heart at an earlier stage. International learned societies recommend an early morphological examination with heart-centered slices before 14 weeks in high-risk situations. This practice is not systematic in France and no study has evaluated its feasibility and impact in a French care network.

Official Title
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Early Detection of Severe Heart Disease in Fetuses at High Risk of Heart

Conditions
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Heart Diseases

Intervention / Treatment
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* Other: early ultrasound screening


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Pregnant women whose fetus is at high risk for congenital heart disease: Nuchal translucency measurement on T1 echo ≥3.5mm Cardiac or extra-cardiac morphological abnormality suspected on the T1 screening echo First degree family history for the fetus (patient, spouse, 1st children of the couple) of significant congenital cardiopathy (excluding AIC, muscular VIC or persistent CA). Exclusion Criteria: Multiple Pregnancies non-emancipated minors, persons unable to express their consent. Lack of affiliation to a social security scheme. Subject in a period of exclusion from another study, Subject under administrative or judicial supervision Subject cannot be contacted in case of emergency

Ages Eligible for Study
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Minimum Age: 18 Months

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: precocious EchoMorpho-T1<br>Women whose fetus is at high risk of congenital heart disease after the 1st trimester screening echo (EchoT1), will benefit from an early morphological ultrasound centered on the heart (EchoMorpho-T1) by a sonographer referent between 11 and 14 weeks +/- of an early fetal heart ultrasound (EchoCoeur-T1) between 11 and 15 weeks by a cardio-pediatrician in the event of an abnormality with the EchoMorpho-T1. | Other: early ultrasound screening<br>* Women whose fetus is at high risk of congenital heart disease at the end of the 1st trimester screening ultrasound (EchoT1), will benefit from an early heart-centered morphological ultrasound (EchoMorpho-T1) by a referring sonographer between 11 and 14 SA +/- an early fetal cardiac ultrasound (EchoCoeur-T1) between 11 and 15 SA by a cardio-paediatrician in case of EchoMorpho-T1 abnormality. The results of the early morphological and cardiac ultrasounds will be compared with those of the 2nd trimester ultrasound at 18-22SA (EchoMorpho-T2) and +/- of the fetal cardiac ultrasound between 18SA and 24SA (Gold standard) or, failing this, with the anatomopathological examination when it is available if a medical termination of pregnancy took place before the EchoMorpho-T2.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| early ultrasound screening | Calculation of the sensitivity and specificity of screening for severe heart disease using EchoMorpho-T1. Specificity will be privileged in order to avoid the anxiety-producing nature of false positives. | 1 day |