CN

Birth Defects Testing

Fetal chromosomal abnormalities or genetic mutations are one of the main causes of birth defects and it is necessary to prevent them and provide timely treatment for children with birth defects. Among them, prenatal screening is one of the important means to prevent birth defects, which can predict the risk of possible congenital defects during pregnancy; screening of newborns for genetic diseases can provide early therapeutic interventions to ensure the healthy growth of the affected children.

Digital PCR has the characteristics of absolute quantification, high sensitivity and high accuracy, so it can give very accurate results for copy number variation and gene mutation detection. At present, several research teams at home and abroad have demonstrated that digital PCR can be used to detect a variety of genetic diseases caused by chromosomal abnormalities and genetic mutations, including chromosomal aneuploidy disorders (Down syndrome), hereditary deafness, and spinal muscular atrophy.


Recommended Products