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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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455924002869 |
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| author | Yu-Hong Long Si-Qi Wu Xin Wang Li-Ping Wu Yi-Min Xiong Xin Yang Feng-Xiang Wei |
| author_facet | Yu-Hong Long Si-Qi Wu Xin Wang Li-Ping Wu Yi-Min Xiong Xin Yang Feng-Xiang Wei |
| author_sort | Yu-Hong Long |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-41c246774f104641b2e52bf0a066d1c3 |
| institution | Kabale University |
| issn | 1028-4559 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj-art-41c246774f104641b2e52bf0a066d1c32025-01-09T06:12:52ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592025-01-01641120124Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal arrayYu-Hong Long0Si-Qi Wu1Xin Wang2Li-Ping Wu3Yi-Min Xiong4Xin Yang5Feng-Xiang Wei6Genetics Lab of Longgang Maternity and Child Institute of Shantou University Medical College (Longgang District Maternity & Child Healthcare Hospital of Shenzhen City), Shenzhen, Guangdong, ChinaLonggang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, ChinaJiamusi University, Jiamusi, ChinaLonggang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, ChinaLonggang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, ChinaLonggang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, ChinaGenetics Lab of Longgang Maternity and Child Institute of Shantou University Medical College (Longgang District Maternity & Child Healthcare Hospital of Shenzhen City), Shenzhen, Guangdong, China; Corresponding author. Longgang District Maternal & Child Healthcare Hospital of Shenzhen City, No. 6 of Ailong Road, Longcheng Street, Longgang District, Shenzhen, Guangdong, 518172, China.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.http://www.sciencedirect.com/science/article/pii/S1028455924002869COL4A1Fetal intracerebral hemorrhagePrenatal diagnosisUltrasoundMRI |
| spellingShingle | Yu-Hong Long Si-Qi Wu Xin Wang Li-Ping Wu Yi-Min Xiong Xin Yang Feng-Xiang Wei Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array Taiwanese Journal of Obstetrics & Gynecology COL4A1 Fetal intracerebral hemorrhage Prenatal diagnosis Ultrasound MRI |
| title | Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array |
| title_full | Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array |
| title_fullStr | Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array |
| title_full_unstemmed | Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array |
| title_short | Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array |
| title_sort | fetal intracranial hemorrhage in second trimester an ominous finding even after a normal array |
| topic | COL4A1 Fetal intracerebral hemorrhage Prenatal diagnosis Ultrasound MRI |
| url | http://www.sciencedirect.com/science/article/pii/S1028455924002869 |
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