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

Taiwan J Obstet Gynecol. 2025 Jan;64(1):120-124. doi: 10.1016/j.tjog.2024.07.020.

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.

Keywords: COL4A1; Fetal intracerebral hemorrhage; MRI; Prenatal diagnosis; Ultrasound.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Collagen Type IV* / genetics
  • Exome Sequencing*
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics
  • Humans
  • Intracranial Hemorrhages* / diagnostic imaging
  • Magnetic Resonance Imaging*
  • Mutation, Missense
  • Pregnancy
  • Pregnancy Trimester, Second*
  • Ultrasonography, Prenatal*

Substances

  • Collagen Type IV
  • COL4A1 protein, human