Discover the latest research on screening and diagnosis of fetal anomalies: brain and heart at ISUOG 2025.

Effective screening for fetal anomalies is crucial for providing comprehensive antenatal care for women and families. Healthcare professionals involved in screening must be well-versed in current guidelines and techniques to perform their roles effectively.  

Central nervous system malformations are among the most common congenital abnormalities and have profound implications for outcomes at birth. Similarly, congenital heart disease also contributes to infant morbidity and mortality. Prenatal detection of these conditions, combined with proficiency in screening techniques, enables timely patient counselling and preparation for the birth of neonates who will require specialized care and services. In some cases, prenatal diagnosis can improve birth outcomes before any intervention is necessary.  

These conditions significantly impact women's health by directly influencing maternal care, pregnancy outcomes, and the overall well-being of both mother and child. Access to the latest research and advancements in prenatal diagnostics is therefore vital for improving detection rates and birth outcomes.  

Prenatal detection rates can vary widely across different geographic regions, often due to differences in examiner expertise and available resources. Ensuring that healthcare providers are well-trained and equipped with up-to-date knowledge is essential for enhancing the effectiveness of fetal brain and cardiac screening. 

Why is fetal anomalies a key topic at ISUOG 2025?

This topic includes a description of the different fetal structural anomalies that can be detected by an ultrasound examination during pregnancy. The topic is clinically relevant since the incidence of such fetal anomalies has been increasing during the last decade leading to a growing medical responsibility for testing for conditions in a fetus before it is born to detect defects, anatomic malformations and genetic anomalies. Prenatal diagnosis is still challenging but some ultrasound clues can allow a proper diagnosis and a high detection rate in experience hands. New fetal surgery procedures have been recently developed in an attempt to improve prognosis for cases at risk of perinatal death and therefore, a proper diagnosis and early referral to fetal surgery centers is crucial in this era. 

Rogelio Cruz Scientific Committee member - ROC

Recent UOG articles

 

Supplement your learning 

Lectures

Screening and diagnosis of Spina bifida 11-14 weeks - Simon Meagher 

 

3D evaluation of the fetal CNS - Rabih Chaoui

 

Transposition of the great arteries - Dario Paladini 

 

Vascular ring anomalies - Julene Carvalho

 

ISUOG guidelines

 

VISUOG

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Abnormal 4-chamber view

Explore chapters on the abnormal 4 chamber view.

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Abnormal outflow tracts

Explore chapters on aortic stenosis, common arterial trunk, fallots & variants, TGA, c-TGA, and pulmonary stenosis.

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Abnormal 3-vessels view

Explore chapters on persistent left superior vena cava, aberrant right subclavian artery, double aortic arch and right aortic arch.

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Holoprosencephaly

Holoprosencephaly derives from failure of separation of the cerebral hemispheres. In the most severe forms there is one undivided cerebral mass that contains a crescent shaped rudimentary ventricular cavity. In these cases, severe cranio-facial anomalies (cyclopia, hypotelorism, median cleft face) are associated.

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Dandy-Walker Complex

Under this term are included a group of conditions that share in common one sonographic findings: the impression that the fourth ventricle communicates with the cisterna magna. These conditions include: Dandy-Walker malformation, Blake’s pouch cyst, vermian hypoplasia/agenesis. They have a similar sonographic appearance, particularly in early gestation, and differentiation requires a multiplanar approach.

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Porencephaly

Porencephaly is characterized by single or multiple cysts replacing the brain parenchyma. The cyst may communicate with the lateral ventricle, subarachnoid space or both. It is usually a sporadic condition caused by hemorrage, ischemia or infections.

Schizencephaly

This leaflet is to help you understand what Schizencephaly is, what tests you need, and the implication of having been diagnosed with Schizencephaly for you, your baby and your family.

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Intracranial hemorrage

Intracranial hemorrage may occur within the lateral ventricles or in the subdural space. The sonographic appearance changes with time. An echogenic collection is first seen, and in the following days it develops into a complex mass frequently complicated by sever ventriculomegaly.

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Severe ventriculomegaly

The current definition is an increased size of the lateral ventricles, with a transverse diameter of the atrium in excess of 15mm without evidence of other cerebral malformations. It is a rare condition, usually a part of complex cerebral abnormalities, less frequently the consequence of obstructed cerebrospinal fluid turnover.

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Agenesis of the corpus callosum

Agenesis of the corpus callosum may be either complete or partial. Intracranial anatomy is variable. Other intracranial anomalies are frequently encountered including ventriculomegaly, cysts, lipomas. It may be a part of genetic and genetic syndromes. The prognosis is uncertain.

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Agenesis of Septum Pellucidum

Absence of the septum pellucidum is found with many cerebral malformations, including holoprosencephaly, agenesis of corpus callosum, ventriculomegaly, open spina bifida, cortical malformations. It may be an isolated abnormality and in this case the cerebral anatomy is unremarkable but for fusion of the frontal horns.

 

Patient information

Intracranial tumors

This leaflet is to help you understand what Intracranial tumors are, what tests you need and the implication of having been diagnosed with Intracranial tumors for you, your baby and your family.

Agenesis of the septum pellucidum

This leaflet is to help you understand what Agenesis of Septum Pellucidum is, what tests you need and the implication of having been diagnosed with Agenesis of Septum Pellucidum is for you, your baby and your family.

Ventriculomegaly

This leaflet is to help you understand what Ventriculomegaly is, what tests you need, and the implication of having been diagnosed with Ventriculomegaly for you, your baby and your family.

Heart

 

CME activities

Questions

What are the most common abnormalities of the fetal brain and heart? 

Which abnormalities of the fetal heart and brain can be diagnosed in the first trimester?  Which abnormalities of the fetal brain are more commonly diagnosed in the third trimester? 

How should the fetal heart be assessed in the third trimester? 

What further testing should be offered when these abnormalities are encountered? 

Register for the ISUOG World Congress to get answers to these questions. 

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