High school Tay-Sachs disease carrier screening: 5 To 11-year follow-up

被引：9

作者：

Curd H. ^{[1
,2
,3
]}

Lewis S. ^{[1
]}

Macciocca I. ^{[1
,3
]}

Sahhar M. ^{[1
,3
]}

Petrou V. ^{[3
,4
]}

Bankier A. ^{[5
]}

Lieberman S. ^{[6
]}

Levy-Lahad E. ^{[6
]}

Delatycki M.B. ^{[1
,2
,5
]}

机构：

[1] Murdoch Childrens Research Institute, Melbourne, VIC 3052, Flemington Road

[2] Department of Paediatrics, University of Melbourne, Parkville, VIC

[3] Genetic Health Services Victoria, Parkville, VIC

[4] Royal Australian and New Zealand College of Obstetricians and Gynaecologists, Melbourne, VIC

[5] Clinical Genetics, Austin Health, Heidelberg, VIC

[6] Clinical Genetics, Shaare Zedek Medical Centre, Jerusalem

来源：

Journal of Community Genetics | 2014年 / 5卷 / 2期

关键词：

Adolescent; Carrier screening; High school; Psychological impact;

D O I：

10.1007/s12687-013-0163-z

中图分类号：

学科分类号：

摘要：

The Melbourne high school Tay-Sachs disease (TSD) carrier screening program began in 1997. The aim of this study was to assess the outcomes of this screening program among those who had testing more than 5 years ago, to evaluate the long-term impact of screening. A questionnaire was used for data collection and consisted of validated scales and purposively designed questions. Questionnaires were sent to all carriers and two non-carriers for each carrier who were screened in the program between 1999 and 2005. Twenty-four out of 69 (34.8 %) carriers and 30/138 (21.7 %) non-carriers completed the questionnaire. Most participants (82 %) retained good knowledge of TSD and there was no evidence of a difference in knowledge between carriers and non-carriers. Most participants (83 %) were happy with the timing and setting of screening and thought that education and screening for TSD should be offered during high school. There was no difference between carriers and non-carriers in mean scores for the State Trait Anxiety Inventory and Decision Regret Scale. This evaluation indicated that 5-11 years post high school screening, those who were screened are supportive of the program and that negative consequences are rare. © 2013 Springer-Verlag.

引用

页码：139 / 146

页数：7

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