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Fetal heart defects: potential and pitfalls of first-trimester detection
Asma Khalil1, Kypros H Nicolaides
1Department of Fetal Medicine, St George's Hospital, University of London, UK.
Insights
Early screening for congenital heart defects (CHDs) in the first trimester shows promise, aided by markers like nuchal translucency. However, expert assessment and potential follow-up scans are crucial for accurate detection.
Area of Science:
- Perinatology
- Fetal Medicine
- Medical Imaging
Background:
- Congenital heart defects (CHDs) are the primary cause of infant mortality from birth defects.
- Screening for aneuploidies has shifted to the first trimester, increasing focus on early CHD detection.
- Early fetal heart assessment demands specialized expertise in anomaly scanning and echocardiography.
Purpose of the Study:
- To review the current state of early screening and detection of CHDs.
- To discuss factors influencing major CHD detection at 11-13 weeks gestation.
- To highlight the role of ultrasound techniques and the necessity of follow-up assessments.
Main Methods:
- Review of current literature on first-trimester screening for CHDs.
- Analysis of easily detectable markers associated with major CHDs.
- Consideration of technological advancements like transvaginal ultrasound.
Main Results:
- First-trimester screening for CHDs is influenced by associated markers (nuchal translucency, ductus venosus flow, tricuspid regurgitation).
- Detection rates depend on scan objectives, resource allocation, and operator expertise.
- Newer ultrasound techniques may enhance detection rates.
Conclusions:
- Early detection of major CHDs at 11-13 weeks is feasible but influenced by multiple factors.
- Limitations of first-trimester fetal echocardiography necessitate careful consideration.
- Follow-up fetal echocardiography in mid-gestation is recommended in certain cases.
Abstract:
Congenital heart defects (CHDs) are the leading cause of infant mortality due to birth defects. In the last 15 years, with the shift in screening for aneuploidies to the first trimester, extensive research has concentrated on early screening and detection of CHDs. Early detailed assessment of the fetal heart requires a high level of expertise in early anomaly scanning and fetal echocardiography. However, the detection of major CHDs at 11-13 weeks is influenced by their association with easily detectable markers, such as the nuchal translucency, ductus venosus blood flow and tricuspid regurgitation, and a policy decision as to the objectives of this scan and the allocation of resources necessary to achieve them. The use of transvaginal ultrasound and newer techniques are likely to improve the detection rate. However, the limitations of fetal echocardiography in the first trimester must be borne in mind, and follow-up at mid-gestational echocardiography is prudent in some cases.
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