Fetal Cranial Biometric Abnormalities: The Value of Routine Ultrasound for Early Diagnosis of Glutaric…

ReviewPrenatal diagnosis· May 2026

Fetal Cranial Biometric Abnormalities: The Value of Routine Ultrasound for Early Diagnosis of Glutaric Acidemia Type 1.

Shunan Wang, Xiangli Meng, Xiaoxiao Zhang … Qingqing Wu

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Biochemical GeneticsReviewDiagnosisQ2IF 2.6

Fetal macrocephaly was the most common prenatal finding in glutaric acidemia type 1 cases

Fetal Cranial Biometric Abnormalities: The Value of Routine Ultrasound for Early Diagnosis of Glutaric Acidemia Type 1.

Shunan Wang … Qingqing Wu

Prenatal diagnosis · May 2026 · Q2 in Genetics

Background

Glutaric acidemia type 1 (GA-1) is a severe, life-threatening organic acidemia.

Purpose

This study aimed to evaluate fetal ultrasound findings as early clues for GA-1.

Methods

His prenatal ultrasound records were retrospectively reviewed.

n = six fetal GA-1 cases

Results

macrocephaly was the leading prenatal ultrasound clue to GA-1

5cases/

Macrocephaly

3cases/

Enlarged Sylvian fissu

2cases/

Temporal lobe hypoplas

2cases/

Subependymal cysts

More results

In the present case, both biparietal diameter (biparietal diameter) and head circumference (head circumference) exceeded the 97th percentile by 32 + 1 week of gestation.

At 36 + 1 week, biparietal diameter remained above the 97th percentile, while head circumference was near it.

More results

Genetic analysis revealed two novel heterozygous GCDH variants: c.492C > G and c.648G > A.

The scoping review identified six fetal GA-1 cases.

“

Conclusion · 1 of 2

Specific prenatal cranial findings, particularly fetal macrocephaly, may serve as early clues for GA-1. The diagnostic indication is strengthened when macrocephaly coexists with features such as Sylvian fissure widening.

Conclusion · 2 of 2

Recognition of these features could facilitate earlier identification and diagnosis of GA-1.

Fetal Cranial Biometric Abnormalities: The Value of Routine Ultrasound for Early Diagnosis of Glutaric Acidemia Type 1.

Fetal Cranial Biometric Abnormalities: The Value of Routine Ultrasound for Early Diagnosis of Glutaric Acidemia Type 1.

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