Congenital heart anomalies in the first trimester: From screening to diagnosis

Area of Science:

• Medical Imaging
• Fetal Medicine
• Cardiology

Background:

• Congenital heart defects (CHDs) affect ~1% of newborns, being the most common congenital malformation.
• Prenatal diagnosis is typically in the second trimester due to fetal heart complexity and size.
• Early diagnosis of CHDs offers advantages in planning investigations, counseling, and management.

Purpose of the Study:

• To summarize the current state-of-the-art imaging techniques for fetal heart examination in the first trimester of pregnancy.
• To highlight advancements in antenatal imaging for improved detection of cardiac malformations early in gestation.

Main Methods:

• Review of current scientific literature on first-trimester fetal cardiac imaging.
• Analysis of advancements in ultrasound and other imaging modalities for early fetal heart assessment.

Main Results:

• First-trimester fetal echocardiography has evolved significantly, enhancing detection capabilities.
• Specific imaging protocols and technological improvements allow for earlier visualization of cardiac structures.
• Increased emphasis on early screening is improving the timeliness of diagnosis.

Conclusions:

• State-of-the-art first-trimester imaging is increasingly effective for diagnosing fetal heart abnormalities.
• Earlier diagnosis facilitates timely prenatal counseling and management planning.
• Continued advancements in antenatal imaging promise further improvements in CHD detection rates.