Prenatal diagnosis of hereditary diffuse gastric cancer: a case report.

ABSTRACT:

Background

Hereditary diffuse gastric cancer(HDGC) is a kind of malignant gastric cancer that is difficult to find in the early stage. However, this late onset and incomplete penetrance hereditary cancer, and its prenatal diagnosis have rarely been reported previously.

Case presentation

A 26-year-old woman was referred to genetic counseling for an ultrasonography of fetal choroid plexus cyst at 17 weeks of gestation. The ultrasonographic evaluation showed bilateral choroid plexus cysts(CPC) in the lateral ventricles, and the women showed a family history of gastric cancer and breast cancer. Trio copy number sequencing identified a pathogenic CDH1 deletion in the fetus and unaffected mother. The CDH1 deletion was found in three of the five family members tested, segregation a

SUBMITTER: Xiao J 

PROVIDER: S-EPMC10314645 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature