Abstract：
BACKGROUND: Methodological advancements, such as relative haplotype and relative mutation dosage analyses, have enabled non-invasive prenatal diagnosis of autosomal recessive and X-linked diseases. Duchenne muscular dystrophy (DMD) is an X-linked recessive disease characterized by progressive proximal muscular dystrophy and a high mortality rate before the age of twenty. We aimed to systematically present obtainable data regarding a non-invasive prenatal diagnosis of DMD and provide a comprehensive resume on the topic. The emphasis was given to the comparison of different available protocols and molecular methods used for fetal inheritance deduction, as well as their correlation with prognostic accuracy.
METHODS: We searched the Scopus and PubMed databases on 11 November 2022 and included articles reporting a non-invasive prenatal diagnosis of DMD in families at risk using relative dosage analysis methods.
RESULTS: Of the 342 articles identified, 7 met the criteria. The reported accuracy of NIPT for DMD was 100% in all of the studies except one, which demonstrated an accuracy of 86.67%. The combined accuracy for studies applying indirect RHDO, direct RHDO, and RMD approaches were 94.74%, 100%, and 100%, respectively. Confirmatory results by invasive testing were available in all the cases. Regardless of the technological complexity and low prevalence of the disease that reduces the opportunity for systematic research, the presented work demonstrates substantial accuracy of NIPT for DMD.
CONCLUSIONS: Attempts for its implementation into everyday clinical practice raise many ethical and social concerns. It is essential to provide detailed guidelines and arrange genetic counseling in order to ensure the proper indications for testing and obtain informed parental consent.
METHODS: We searched the Scopus and PubMed databases on 11 November 2022 and included articles reporting a non-invasive prenatal diagnosis of DMD in families at risk using relative dosage analysis methods.
RESULTS: Of the 342 articles identified, 7 met the criteria. The reported accuracy of NIPT for DMD was 100% in all of the studies except one, which demonstrated an accuracy of 86.67%. The combined accuracy for studies applying indirect RHDO, direct RHDO, and RMD approaches were 94.74%, 100%, and 100%, respectively. Confirmatory results by invasive testing were available in all the cases. Regardless of the technological complexity and low prevalence of the disease that reduces the opportunity for systematic research, the presented work demonstrates substantial accuracy of NIPT for DMD.
CONCLUSIONS: Attempts for its implementation into everyday clinical practice raise many ethical and social concerns. It is essential to provide detailed guidelines and arrange genetic counseling in order to ensure the proper indications for testing and obtain informed parental consent.
摘要：
背景：方法进步，如相对单倍型和相对突变剂量分析，已经实现了常染色体隐性遗传和X连锁疾病的非侵入性产前诊断。杜氏肌营养不良症(DMD)是一种X连锁隐性疾病,其特征在于进行性近端肌营养不良症和在二十岁之前的高死亡率。我们旨在系统地提供有关DMD的非侵入性产前诊断的可获得数据，并提供有关该主题的全面简历。重点是比较不同的可用方案和用于胎儿遗传推断的分子方法，以及它们与预后准确性的相关性。
方法：我们于2022年11月11日搜索了Scopus和PubMed数据库，并纳入了报告使用相对剂量分析方法在有风险的家庭中进行DMD的非侵入性产前诊断的文章。
结果：在确定的342篇文章中，7符合标准。在所有研究中，NIPT对DMD的报告准确性均为100％，其准确度为86.67%。应用间接RHDO研究的综合准确性，直接RHDO，RMD方法为94.74%，100%,100%,分别。在所有情况下，均可通过侵入性测试获得确认结果。尽管该疾病的技术复杂性和低患病率减少了系统研究的机会，所提出的工作证明了NIPT对DMD的相当高的准确性。
结论：将其应用到日常临床实践中的尝试引起了许多伦理和社会关注。必须提供详细的指南并安排遗传咨询，以确保测试的适当适应症并获得父母的知情同意。
方法：我们于2022年11月11日搜索了Scopus和PubMed数据库，并纳入了报告使用相对剂量分析方法在有风险的家庭中进行DMD的非侵入性产前诊断的文章。
结果：在确定的342篇文章中，7符合标准。在所有研究中，NIPT对DMD的报告准确性均为100％，其准确度为86.67%。应用间接RHDO研究的综合准确性，直接RHDO，RMD方法为94.74%，100%,100%,分别。在所有情况下，均可通过侵入性测试获得确认结果。尽管该疾病的技术复杂性和低患病率减少了系统研究的机会，所提出的工作证明了NIPT对DMD的相当高的准确性。
结论：将其应用到日常临床实践中的尝试引起了许多伦理和社会关注。必须提供详细的指南并安排遗传咨询，以确保测试的适当适应症并获得父母的知情同意。
