|Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China|
|Zhang, Hongwen; Ding, Jie; Wang, Fang; Yu, Lixia|
|关键词||Alport Syndrome Attitude Genetic Diagnosis Prenatal Diagnosis|
|WOS标题词||Science & Technology|
|类目[WOS]||Urology & Nephrology|
|研究领域[WOS]||Urology & Nephrology|
|关键词[WOS]||AUTOSOMAL-DOMINANT ; MUTATIONS ; DISEASE ; DEAFNESS ; CHILDREN ; SKIN|
Aim: Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked dominant AS (XLAS) is the predominant inheritance form caused by mutations in COL4A5 gene. Attitudes toward genetic diagnosis and prenatal diagnosis for Chinese AS families were investigated. Attitudes toward genetic diagnosis and prenatal diagnosis in Chinese XLAS families were evaluated in the current study.
Methods: A total of 160 XLAS patients and their 126 healthy family members in China were interviewed. After providing background knowledge counselling and education on AS, their attitudes toward genetic diagnosis and prenatal diagnosis were evaluated by multiple-choice questionnaire.
Results: Majority of the respondents cared mostly about the prognosis and treatment effects of AS (89.9% vs 81.1%) since they considered that the worst outcome of XALS was renal insufficiency (92.3%). Of all the interviewees, 99.3% were interested in genetic research for the discovery of better treatments and more appropriate diagnostic tools (positive attitudes) (89.5% vs 73.2%). About 80% of the participants would accept prenatal testing and subsequent termination of pregnancy in cases of affected foetuses (boys: 86.8% and girls: 74.6%, respectively).
Conclusion: Most Chinese XLAS families show positive attitudes and desire new discoveries in treatment and diagnosis. About 80% of respondents would approve prenatal testing with a desire for selective termination of pregnancy rather than predicting the health of a future child.
|资助机构||National Natural Science Foundation of China|
|作者单位||Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China|
|Zhang, Hongwen,Ding, Jie,Wang, Fang,et al. Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China[J]. NEPHROLOGY,2012,17(4):398-401.|
|APA||Zhang, Hongwen,Ding, Jie,Wang, Fang,&Yu, Lixia.(2012).Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China.NEPHROLOGY,17(4),398-401.|
|MLA||Zhang, Hongwen,et al."Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China".NEPHROLOGY 17.4(2012):398-401.|