Fetal Macrocephaly: Prenatal Findings and Follow‐Up in Cases With High Risk for Abnormal Outcome

High Z-scores and additional imaging findings strongly correlate with genetic abnormalities, most often mTOR-related. These results support the integration of exome sequencing into prenatal evaluation of fetal macrocephaly.

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Publication Details

Journal
Prenatal Diagnosis
Published
2025-12-07
DOI
https://doi.org/10.1002/pd.70049
Primary Topic
Fetal and Pediatric Neurological Disorders
Type
article
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article

Fetal Macrocephaly: Prenatal Findings and Follow‐Up in Cases With High Risk for Abnormal Outcome

D. Kidron, M. Brusilov, G. Malinger, Roee Birnbaum et al.
Prenatal Diagnosis
Fetal and Pediatric Neurological Disorders
article

Fetal Macrocephaly: Prenatal Findings and Follow‐Up in Cases With High Risk for Abnormal Outcome

D. Kidron, M. Brusilov, G. Malinger, Roee Birnbaum, Liat Ben‐Sira, Hadas Miremberg, Karina Krajden Haratz, Yuval Yaron, Michal Levy, Rayna Goldstein, Mordechai Shohat
article en

Abstract

High Z-scores and additional imaging findings strongly correlate with genetic abnormalities, most often mTOR-related. These results support the integration of exome sequencing into prenatal evaluation of fetal macrocephaly.

Prenatal DiagnosisVol. 46(1)
Tel Aviv University (IL), Tel Aviv Sourasky Medical Center (IL), Sheba Medical Center (IL), Meir Medical Center (IL)
Openalex Percentile: Top 51%
Fetal and Pediatric Neurological Disorders
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Fetal Macrocephaly: Prenatal Findings and Follow‐Up in Cases With High Risk for Abnormal Outcome — D. Kidron, M. Brusilov, et al. · Prenatal Diagnosis (2025) | TGRS Research Map | TGRS