Can syndromic macrocephaly be diagnosed in utero?
G Malinger1, D Lev, L Ben-Sira
1Fetal Neurology Clinic, Edith Wolfson Medical Center, Holon, Israel. gmalinger@gmail.com
Summary
Fetal macrocephaly with associated anomalies indicates syndromic macrocephaly, often with a larger head circumference. Isolated macrocephaly, especially with head circumference less than 2.5 SDs, may be benign.
Area of Science:
- Prenatal diagnosis
- Fetal neurology
- Pediatric neurodevelopment
Background:
- Macrocephaly, defined as head circumference (HC) > 2 Standard Deviations (SDs) above the norm, can be isolated or associated with other anomalies.
- Accurate prenatal diagnosis and differentiation between isolated and syndromic macrocephaly are crucial for appropriate management and counseling.
Purpose of the Study:
- To compare outcomes of fetuses with apparently isolated macrocephaly versus those with associated findings.
- To correlate prenatal findings with postnatal diagnoses in children diagnosed with syndromic macrocephaly.
Main Methods:
- Retrospective review of 98 patients with suspected fetal macrocephaly over a 10-year period.
- Definition of macrocephaly as HC > 2 SDs; evaluation of prenatal ultrasound and MRI findings.
- Postnatal follow-up and developmental assessment of liveborn infants.
Main Results:
- Of 98 patients, 82 had isolated macrocephaly (Group A) and 16 had associated anomalies (Group B).
- Group B patients had earlier diagnosis (28.4 vs. 32.3 weeks) and larger HC (Z-score 2.95 vs. 2.3).
- Syndromic diagnoses were made in utero for 5 fetuses and postnatally for 3; 8 patients had confirmed anomalies without specific diagnosis.
Conclusions:
- Fetal macrocephaly associated with brain or systemic anomalies suggests syndromic macrocephaly, often presenting with HC > 2.5 SDs.
- Syndromic macrocephaly can be diagnosed prenatally when other anomalies are present.
- Isolated macrocephaly, particularly with HC < 2.5 SDs, may have a clinically benign outcome.
