IMPACT OF GENETIC-COUNSELING AFTER NEONATAL SCREENING FOR DUCHENNE MUSCULAR-DYSTROPHY
IMPACT OF GENETIC-COUNSELING AFTER NEONATAL SCREENING FOR DUCHENNE MUSCULAR-DYSTROPHY
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DOI：
10.1136/jmg.30.8.670
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发表时间：
1993-08-01
影响因子：
4
通讯作者：
GREENBERG, CR
中科院分区：
文献类型：
--
作者：
HILDES, E;JACOBS, HK;GREENBERG, CR
在加拿大马尼托巴省进行的杜氏肌营养不良症(DMD)新生儿筛查试验计划中，1986年1月1日至1989年12月31日期间发现了8名受影响的男性。通过1992年5月对8对指示病例的父母、2名大概率携带者阿姨和1名大概率携带者姐妹的问卷调查，获得人口统计学信息、DMD知识、生殖结局以及对产前诊断和新生儿筛查的态度。尽管这些家庭普遍赞成对新生儿进行常规的DMD筛查，但6名妇女报告的7次怀孕中，有5次没有进行产前诊断，结果生下了两名受影响的男孩。在可比的时间间隔内，产前诊断对于携带者女性来说是可以接受的，其受影响的男性亲属传统上被诊断为四或五年。我们的结论是，尽管分子遗传学分析现在可以对DMD进行准确的诊断，但高精度的携带者检测和产前诊断、非常早期的DMD携带者识别以及在基于人口的新生儿筛查计划中识别DMD男性后的遗传咨询可能不是减少DMD家庭内重复病例数量或DMD总体人群频率的有效方法。
In a pilot neonatal screening programme for Duchenne muscular dystrophy (DMD) conducted in the Canadian province of Manitoba, a cohort of eight affected males was identified between 1 january 1986 and 31 December 1989. Demographic information, knowledge of DMD, reproductive outcome, and attitudes to prenatal diagnosis and neonatal screening for DMD were obtained through questionnaires distributed in May 1992 to the eight sets of parents of index cases, two high probability carrier aunts, and one high probability carrier sister. Personal interviews were subsequently conducted in the summer of 1992.Although there is overall consensus among the families in favour of routine neonatal screening for DMD, five of seven subsequent pregnancies reported in six women were not monitored by prenatal diagnosis and have resulted in the birth of two affected boys. In a comparable time interval, prenatal diagnosis was acceptable to carrier females whose affected male relatives were traditionally diagnosed at four or five years. We conclude that, although molecular genetic analysis now allows for precise diagnosis of DMD, highly accurate carrier testing and prenatal diagnosis, very early DMD carrier identification, and genetic counselling after the identification of DMD males in a population based neonatal screening programme may not be an effective way of decreasing the number of repeat cases of DMD within families or the overall population frequency of DMD.