de Silva D, Jayasekera K M, Rubasinghe N K, de Silva D G
Department of Paediatrics, Faculty of Medicine of University of Ruhuna, Galle, Sri Lanka.
Ceylon Med J. 1997 Sep;42(3):129-32.
To determine knowledge about four genetic disorders (Down's syndrome (DS), haemophilia (haem), spinal muscular atrophy type 1 (SMA1) and Huntington's disease (HD)), attitudes towards counselling, acceptability of prenatal diagnosis and termination of pregnancies affected with these conditions.
Questionnaire survey of a cohort of medical students and newly qualified doctors.
Faculty of Medicine, University of Ruhuna.
227 completed questionnaires (111 fourth year and 86 final year students, and 30 demonstrators) were analysed. Awareness of DS and haem, was higher than of SMA1 and HD, and was highest among the demonstrators. Over 80% of the cohort would not counsel directively about future pregnancies and would discuss the diseases with the family or at risk individuals. Prenatal diagnosis was found acceptable for DS, haem and SMA1 by a majority of the cohort. Attitudes to termination of affected pregnancies varied, 88%, 77%, 55% and 36% finding it acceptable for DS, SMA1, haem, and HD respectively, provided legal terminations were available and termination was requested by parents.
This cohort of students and doctors appear to accept the principles of clinical genetics involving non-directive counselling, prenatal diagnosis and in some disorders, termination of pregnancy.
确定关于四种遗传疾病（唐氏综合征（DS）、血友病（haem）、1型脊髓性肌萎缩症（SMA1）和亨廷顿舞蹈症（HD））的知识、对遗传咨询的态度、产前诊断的可接受性以及对受这些疾病影响的妊娠进行终止妊娠的态度。
对一组医学生和新获得资格的医生进行问卷调查。
鲁胡纳大学医学院。
对227份完整问卷（111名四年级学生、86名最后一年学生和30名示范教员）进行了分析。对DS和haem的知晓率高于SMA1和HD，且在示范教员中知晓率最高。超过80%的研究对象不会就未来妊娠进行指导性咨询，而是会与家庭或高危个体讨论这些疾病。大多数研究对象认为DS、haem和SMA1的产前诊断是可接受的。对受影响妊娠终止的态度各不相同，若有合法的终止妊娠且父母提出请求，分别有88%、77%、55%和36%的人认为DS、SMA1、haem和HD的终止妊娠是可接受的。
这组学生和医生似乎接受临床遗传学的原则，包括非指导性咨询、产前诊断以及在某些疾病中终止妊娠。
