High-risk individuals' perceptions of reproductive genetic testing for CDH1 mutations.

作者: Nina Hallowell , Shirlene Badger , Sue Richardson , Carlos Caldas , Richard H Hardwick

DOI: 10.1007/S10689-017-9976-Y

关键词: Hereditary diffuse gastric cancerGynecologyHuman geneticsPregnancyEpidemiologyGenetic counselingGenetic testingPreimplantation genetic diagnosisPrenatal diagnosisFamily medicineMedicine

摘要: Reproductive genetic testing- PreNatal Diagnosis (PND) and Preimplantation Genetic (PGD)—for CDH1 mutations associated with Hereditary Diffuse Gastric Cancer (HDGC)is available in the UK. This qualitative interview study examined high-risk individuals’ (n = 35) views of reproductive testing. Interviewees generally regarded testing as an acceptable form HDGC risk management. However, some were concerned that their risks required them to plan reproduction anticipated difficulties communicating this partners. Individuals had a preference for PGD over PND because it avoided need termination pregnancy. those who not yet children expressed concerns about having undergo IVF procedures worries effectiveness embryo selection PGD. It is suggested individuals are provided access counselling.

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