Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array
Objective: This is a case report of a COL4A1 gene mutation which was confirmed by further genetic testing following anomalies observed in prenatal ultrasound and fetal brain magnetic resonance imaging (MRI). Case reports: The ultrasound examination of the patient revealed a mass in fetal left intrac...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455924002869 |
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| Summary: | Objective: This is a case report of a COL4A1 gene mutation which was confirmed by further genetic testing following anomalies observed in prenatal ultrasound and fetal brain magnetic resonance imaging (MRI). Case reports: The ultrasound examination of the patient revealed a mass in fetal left intracranial cavity. Repeated subsequent MRI detected an evolving mass in the left frontal parietal lobe. All tests such as karyotyping, chromosomal microarray analysis (CMA), and PCR-cytomegalovirus detection of amniotic fluid, returned negative results. However, the whole exome sequencing (WES) identified a heterozygous missense mutation that was considered pathogenic in the COL4A1 (NM_001844.6) gene: c.3715G > A (p.Gly1239Arg). Consequently, the couple chose to terminate the pregnancy and refused the pathological examination of the fetus. Conclusion: This case underscores the importance of image-assisted examinations such as prenatal ultrasound and MRI, and that WES is a critical tool to establish the genetic etiology. |
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| ISSN: | 1028-4559 |