In recent years, the incidence of congenital malformations was increasing obviously due to the significant increase in the number of women with advanced maternal age after the implementation of two children policy in China. Traditional prenatal testing methods faced the problems of the high risk of miscarriage, low sensitivity, and time-consuming. Development of a novel method with the features of noninvasive, rapid, cost-effective and high sensitivity will be of vital clinical value for prenatal testing. This review provided an overview of the common birth defects and compared the merits and drawbacks among current most-used prenatal detection methods. The characteristics of spectroscopic technologies, as well as their applications in prenatal testing were summarized. Spectral karyotyping, real-time fluorescence quantitative PCR, SNP allele site analysis, etc. using fluorescence spectrum analysis method and Raman spectroscopy have been reported in the application of prenatal testing. Finally, a new idea by taking the advantages of SERS for Down syndrome detection in pregnant woman blood was proposed, which may be providing a promising approach for realizing rapid, sensitive and noninvasive prenatal testing.
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