Related Experiment Video
Updated: Jan 7, 2026
07:36
Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
Published on: November 20, 2015
11.7K
Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.
Hadas Miremberg1,2, Gustavo Malinger1,2, Deborah Kidron3
1Division of Obstetric Ultrasound, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Prenatal Diagnosis
|December 7, 2025
Summary
Fetal macrocephaly with high Z-scores and anomalies often indicates syndromic cases. Genetic testing, particularly exome sequencing, is crucial for identifying mTOR pathway gene abnormalities.
Area of Science:
- Prenatal diagnosis
- Medical genetics
- Fetal imaging
Background:
- Fetal macrocephaly (head circumference Z-score ≥ +2) is a common indication for prenatal neurosonography.
- While often benign, syndromic macrocephaly carries a high risk of abnormal neurodevelopment.
- Identifying fetuses at risk for syndromic macrocephaly is critical for appropriate management.
Purpose of the Study:
- To characterize the sonographic and genetic features of fetuses at high risk for syndromic macrocephaly.
- To investigate the correlation between imaging findings and genetic abnormalities in fetal macrocephaly.
Main Methods:
- Retrospective analysis of 19 fetuses with HC Z-scores ≥ +2.5 or ≥ +2 with anomalies.
- Evaluations included fetal neurosonography, anomaly scans, MRI, and genetic work-up (CMA).
- Review of postnatal/postmortem outcomes and data.
Main Results:
- Mean gestational age at diagnosis was 29.6 weeks.
- Associated anomalies were present in 89% of fetuses, including callosal abnormalities and cortical malformations.
- Abnormal genetic findings, primarily involving mTOR pathway genes, were identified in 14 of 17 patients.
Conclusions:
- High Z-scores and additional imaging findings are strong indicators of genetic abnormalities, particularly mTOR-related.
- Exome sequencing should be integrated into the prenatal evaluation of fetal macrocephaly.
- Early identification of syndromic macrocephaly facilitates timely intervention and genetic counseling.
