Developmental outcome of isolated fetal macrocephaly

Area of Science:

• Neurodevelopmental outcomes
• Prenatal diagnostics
• Pediatric neurology

Background:

• Isolated macrocephaly, defined as fetal head circumference >2 SD above the mean for gestational age, is detected via ultrasound.
• Accurate assessment of neurodevelopmental outcomes in these children is crucial for parental counseling.

Purpose of the Study:

• To evaluate the neurodevelopmental outcome of children with isolated macrocephaly diagnosed prenatally.
• To compare their neuropsychological performance with normocephalic children.

Main Methods:

• Retrospective study of 17 fetuses with isolated macrocephaly (head circumference 2.0-2.9 SD).
• Neuropsychological assessment at ages 2-7 years.
• Comparison with 17 age-matched normocephalic controls.

Main Results:

• No significant differences in cognitive, language, or motor domains between groups.
• Study group performed worse on executive functioning, behavior, and social-emotional parameters.
• Familial macrocephaly associated with better executive functioning; paternal head circumference predicted cognitive function.

Conclusions:

• Prenatal diagnosis of isolated macrocephaly (2-3 SD above mean) is not a significant risk factor for abnormal long-term neurodevelopment.
• Findings are important for prenatal parental counseling regarding neurodevelopmental risks.