Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-01-01 DOI:10.1016/j.tjog.2024.07.020

Yu-Hong Long , Si-Qi Wu , Xin Wang , Li-Ping Wu , Yi-Min Xiong , Xin Yang , Feng-Xiang Wei

{"title":"Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array","authors":"Yu-Hong Long , Si-Qi Wu , Xin Wang , Li-Ping Wu , Yi-Min Xiong , Xin Yang , Feng-Xiang Wei","doi":"10.1016/j.tjog.2024.07.020","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><div>This is a case report of a <em>COL4A1</em> gene mutation which was confirmed by further genetic testing following anomalies observed in prenatal ultrasound and fetal brain magnetic resonance imaging (MRI).</div></div><div><h3>Case reports</h3><div>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 <em>COL4A1</em> (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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 1","pages":"Pages 120-124"},"PeriodicalIF":2.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Taiwanese Journal of Obstetrics & Gynecology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1028455924002869","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

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.

查看原文本刊更多论文

妊娠中期胎儿颅内出血：即使在正常排列后也是一个不祥的发现。

目的：这是一个COL4A1基因突变的病例报告，通过进一步的基因检测证实，在产前超声和胎儿脑磁共振成像（MRI）观察到异常。病例报告：超声检查发现胎儿左颅内有肿块。随后反复进行MRI检查，发现左侧额顶叶有不断发展的肿块。所有测试，如核型、染色体微阵列分析（CMA）和羊水pcr巨细胞病毒检测均为阴性。然而，全外显子组测序（WES）鉴定出COL4A1 （NM_001844.6）基因的杂合错义突变：c.3715G > a (p.Gly1239Arg)，被认为具有致病性。因此，这对夫妇选择终止妊娠，并拒绝对胎儿进行病理检查。结论：本病例强调了图像辅助检查的重要性，如产前超声和MRI， WES是确定遗传病因的关键工具。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

期刊介绍： Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.