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Published in: BMC Pregnancy and Childbirth 1/2023

Open Access 01-12-2023 | Gastric Cancer | Case report

Prenatal diagnosis of hereditary diffuse gastric cancer: a case report

Authors: Jun Xiao, Hui Li, Fenggui Xue, Zhifei Luo, Yanyang Pang

Published in: BMC Pregnancy and Childbirth | Issue 1/2023

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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 among affected family members. The couple finally decided to terminate the pregnancy after genetic counseling by hospital geneticists due to the uncertainty of the occurrence of HDGC in the future.

Conclusions

In prenatal diagnosis, a family history of cancer should be widely concerned, and prenatal diagnosis of hereditary tumors requires extensive cooperation between the prenatal diagnosis structure and the pathology department.
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Metadata
Title
Prenatal diagnosis of hereditary diffuse gastric cancer: a case report
Authors
Jun Xiao
Hui Li
Fenggui Xue
Zhifei Luo
Yanyang Pang
Publication date
01-12-2023
Publisher
BioMed Central
Published in
BMC Pregnancy and Childbirth / Issue 1/2023
Electronic ISSN: 1471-2393
DOI
https://doi.org/10.1186/s12884-023-05772-6

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