Newborn screening and prenatal diagnosis for Rett syndrome: Implications for therapy
Newborn screening and prenatal diagnosis for Rett syndrome: Implications for therapy
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DOI：
10.1177/08830738050200091401
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发表时间：
2005-09-01
影响因子：
1.9
通讯作者：
Van den Veyver, IB
中科院分区：
文献类型：
--
作者：
Amir, RE;Sutton, VR;Van den Veyver, IB
大多数患有Rett综合征的女孩在出现典型症状之前发育正常。在新生儿筛查项目中，也可以观察到许多先天性代谢缺陷的症状前阶段。涉及甲基-CpG结合蛋白2基因（MECP 2）的突变或大基因组重排的诊断测试是高度敏感的，并在高达95%的经典Rett综合征女性个体中识别突变。这促使一些人询问是否应该将MECP 2检测纳入新生儿和产前筛查计划。我们回顾了这些项目中当前和不断发展的实践，强调它们与Rett综合征的相关性。可靠的测试和特征的早期潜伏期的可用性，这为早期治疗创造了机会窗口，有利于Rett综合征的普遍新生儿筛查。然而，高昂的费用和缺乏有效的症状前治疗使普遍的新生儿筛查Rett综合征目前不切实际。相反，如果在指示病例中确定了负责的突变，则应向受影响儿童的父母提供产前诊断。
Most girls with Rett syndrome develop normally prior to the appearance of the typical symptoms. A presymptomatic phase is also observed in many inborn errors of metabolism that are included in newborn screening programs. Diagnostic testing for mutations or large genomic rearrangements involving methyl-CpG binding protein 2 gene (MECP2) is highly sensitive and identifies mutations in up to 95% of female individuals with classic Rett syndrome. This has prompted some to ask whether MECP2 testing should be included in newborn and prenatal screening programs. We review current and evolving practices in these programs, emphasizing their relevance to Rett syndrome. The availability of a reliable test and the characteristic early latent phase, which creates a window of opportunity for early treatment, favor universal newborn screening for Rett syndrome. However, the high cost and the lack of an effective presymptomatic treatment make universal newborn screening for Rett syndrome impractical at present. In contrast, prenatal diagnosis should be offered to the parents of an affected child if the responsible mutation has been identified in the index case.