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Journal of ZheJiang University(Medical Science)  2017, Vol. 46 Issue (3): 227-232    DOI: 10.3785/j.issn.1008-9292.2017.06.01
Advances on prenatal diagnosis of birth defects associated with genetic disorders
YAN Kai, JIN Fan
Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China
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Birth defects have become a major public health concern in the world, which can be resulted from the harmful environmental factors, genetic mutations or their co-effects. Prenatal diagnosis or preimplantation diagnosis has been considered as the only effective way for the prevention of the birth of those defects. Besides karyotype analysis and fluorescence in situ hybridization, chromosomal microarray analysis and next generation sequencing or its derivatives are in common use. This article reviews the advances of the newly emerging molecular techniques in prenatal diagnosis of birth defects associated with genetic disorders.

Key wordsGenetic diseases, inborn      Congenital abnormalities      In situ hybridization, fluorescence      Prenatal diagnosis      Chromosomes      Microarray analysis      Review     
Received: 15 February 2017      Published: 25 June 2017
CLC:  R394  
Cite this article:

YAN Kai, JIN Fan. Advances on prenatal diagnosis of birth defects associated with genetic disorders. Journal of ZheJiang University(Medical Science), 2017, 46(3): 227-232.

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关键词: 遗传性疾病,  先天性,  先天畸形,  原位杂交,  荧光,  产前诊断,  染色体,  微阵列分析,  综述 

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