Laboratory screening and diagnosis of inherited metabolic diseases in the newborn / 中华检验医学杂志

ABSTRACT

Birth defect is increasingly an issue of public health and social concern.Newborn screening is the principal content of 3-tiered system of prevention and control for birth defects in China,which plays an important role in promotion of children's health and welfare.Widespread application of mass spectrometry,esp.,tandem mass spectrometry in newborn screening of inherited metabolic diseases has greatly contributed to the increased detection capability and efficiency.Low and medium throughput molecular diagnostic techniques including PCR,Sanger sequencing,high resolution melting analysis,and multipleligation dependent probe amplification are widely applied in diagnosis and discrimination of inherited metabolic diseases.Application of next generation sequencing in newborn screening is emerging,and will undoubtedly revolutionize the arena of newborn screening in future.However,vigorous validation and performance evaluation are warranted before it's applied in newborn screening for inherited metabolic diseases.