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Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array
Yu-Hong Long1, Si-Qi Wu2, Xin Wang3
1Genetics Lab of Longgang Maternity and Child Institute of Shantou University Medical College (Longgang District Maternity & Child Healthcare Hospital of Shenzhen City), Shenzhen, Guangdong, China.
Taiwanese Journal of Obstetrics & Gynecology
|January 10, 2025
Summary
A COL4A1 gene mutation caused fetal brain anomalies detected via prenatal ultrasound and MRI. Whole exome sequencing confirmed the pathogenic mutation, highlighting its importance in diagnosing rare genetic conditions.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Neuroimaging
Background:
- Prenatal diagnosis of fetal brain anomalies requires advanced imaging and genetic analysis.
- The COL4A1 gene plays a crucial role in extracellular matrix formation, and mutations can lead to various developmental abnormalities.
Observation:
- A fetal intracranial mass was identified through prenatal ultrasound and serial fetal brain magnetic resonance imaging (MRI).
- Initial genetic tests including karyotyping, chromosomal microarray analysis (CMA), and PCR-cytomegalovirus detection were negative.
Findings:
- Whole exome sequencing (WES) identified a pathogenic heterozygous missense mutation in the COL4A1 gene (c.3715G>A, p.Gly1239Arg).
- This specific COL4A1 mutation was linked to the observed fetal brain abnormalities.
Implications:
- This case highlights the diagnostic utility of advanced imaging techniques like fetal MRI in identifying structural brain abnormalities.
- Whole exome sequencing is critical for establishing the genetic etiology when routine genetic tests are inconclusive.
- Accurate genetic diagnosis is essential for informed reproductive decision-making in cases of severe fetal anomalies.
