Taiwanese journal of obstetrics & gynecology · 2025
Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Long Yu-Hong, Wu Si-Qi, Wang Xin, Wu Li-Ping, Xiong Yi-Min, Yang Xin, Wei Feng-Xiang
Аннотация
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.
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.