An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.
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DOI：
10.1038/ejhg.2012.101
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发表时间：
2013-01
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--
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杜氏肌营养不良症（DMD）的产前诊断于1984年在荷兰推出。我们调查了26年（1984-2009）产前检测的影响。在635例产前诊断中，51%为男性；其中近一半（46%）的人受到DMD的影响或患DMD的风险增加。结果，145名男性胎儿被打掉，174名未受影响的男孩出生。绝大多数（78%）现已16岁或以上的产前确诊女性没有接受过带菌者检测。他们成为携带者的平均风险是28%。我们比较了1961-1974年和1993-2002年期间DMD的发病率。DMD的发病率没有下降，但第一次受影响的男孩的百分比从62%增加到88%。我们的结论是，很大比例的DMD基因新生突变的家庭不能利用产前诊断，部分原因是年龄较大的受影响男孩在5岁之前没有被诊断出来。目前的政策在遗传学界被广泛接受，该政策规定不检测女性胎儿的携带状况。这些雌性成年后仍未接受检测，并有可能影响后代以及进行性心脏病。我们认为迫切需要改变政策，以提高预防DMD的机会。第一步是引入新生儿雄性筛查。下一步是，如果有要求，对女性进行携带者状态测试，如果胎儿DNA可用，产前测试，甚至在成年之前测试。
Prenatal diagnosis for Duchenne muscular dystrophy (DMD) was introduced in the Netherlands in 1984. We have investigated the impact of 26 years (1984–2009) of prenatal testing. Of the 635 prenatal diagnoses, 51% were males; nearly half (46%) of these were affected or had an increased risk of DMD. As a result 145 male fetuses were aborted and 174 unaffected boys were born. The vast majority (78%) of females, now 16 years or older, who were identified prenatally have not been tested for carrier status. Their average risk of being a carrier is 28%. We compared the incidences of DMD in the periods 1961–1974 and 1993–2002. The incidence of DMD did not decline but the percentage of first affected boys increased from 62 to 88%. We conclude that a high proportion of families with de novo mutations in the DMD gene cannot make use of prenatal diagnosis, partly because the older affected boys are not diagnosed before the age of five. Current policy, widely accepted in the genetic community, dictates that female fetuses are not tested for carrier status. These females remain untested as adults and risk having affected offspring as well as progressive cardiac disease. We see an urgent need for a change in policy to improve the chances of prevention of DMD. The first step would be to introduce neonatal screening of males. The next is to test females for carrier status if requested, prenatally if fetal DNA is available or postnatally even before adulthood.
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