Advanced molecular technologies for the diagnosis of congenital malformation in neonates

YANG Lin; WANG Hui-Jun; HUANG Guo-Ying; ZHOU Wen-Hao

doi:10.7499/j.issn.1008-8830.2013.11.008

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Chinese Journal of Contemporary Pediatrics ›› 2013, Vol. 15 ›› Issue (11) : 960-964. DOI: 10.7499/j.issn.1008-8830.2013.11.008

TOPIC OF GENETIC DISEASE

Advanced molecular technologies for the diagnosis of congenital malformation in neonates

YANG Lin, WANG Hui-Jun, HUANG Guo-Ying, ZHOU Wen-Hao

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Abstract

Congenital malformation is one of the most frequent causes of infant death in western countries and major cities in China. Though genetic screening of newborns remains a hot issue and concern, the mortality rate associated with birth defects has not been significantly reduced over the past 20 years. Many genetic diseases manifest symptoms during the first 28 days of life, but full clinical symptoms might not be evident in newborns. Moreover, genetic aberrations is highly heterogeneous. These complicated factors lead to the establishment of diagnosis based on nonspecific or obscure symptoms. Recently developed array comparative genomic hybridization (CGH) and next generation sequencing (NGS) techniques with efficient high-resolution allow to screening of the entire genome for DNA copy number variants and sequencing respectively. These new and powerful tools can shorten the differential diagnosis process and quicken to movement towards targeted treatment and genetic and prognostic counseling.

Key words

Genetic disorder / Copy number variant / Sequencing analysis / Neonate

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YANG Lin, WANG Hui-Jun, HUANG Guo-Ying, ZHOU Wen-Hao. Advanced molecular technologies for the diagnosis of congenital malformation in neonates[J]. Chinese Journal of Contemporary Pediatrics. 2013, 15(11): 960-964 https://doi.org/10.7499/j.issn.1008-8830.2013.11.008

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