nstd225 (Xiao et al. 2022)
- Organism:
- Human
- Study Type:
- Collection
- Submitter:
- Jun Xiao
- Description:
- 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, its prenatal diagnosis has rarely been reported previously. We report the case of a CDH1 deletion in a fetus with family history of HDGC. Case presentation: A 26-years-old woman was referred to genetic counseling for an ultrasonography of fetal choroid plexus cyst at 17 weeks of gestation. The ultrasono graphic evaluation showed bilateral choroid plexus cysts(CPC) in the lateral ventricles, and the women showed a familial 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 among affected family members. The couple finally decided to terminate the pregnancy after genetic counseling by hospital geneticists due to the uncertainty of the fetal choroid from the cyst and the occurrence of HDGC in the future. See Variant Summary counts for nstd225 in dbVar Variant Summary.