Development of prenatal diagnosis technology and quality control in China / 中华检验医学杂志

ABSTRACT

Prenatal diagnosis is used for discovery of pregnant mothers' fetus abnormalities, ranging from maternal serum screening, cytogenetic analysis for chromosome karyotypes, to molecular genetic diagnosis. It is therefore the primary approach to prevent and reduce birth defects. Based on the experience obtained from developed countries, large-scale prenatal diagnosis has been carried out in China, including maternal serum screening for Down syndrome, prenatal diagnosis of chromosomal diseases, and certain gene analysis for genetic diseases. However, it is noted that such development is uneven in different regions. As a great disease-prevention project involving steady development of the nation and the ethnic groups, it is still necessary to establish or improve the prenatal diagnosis system and quality management regulations that are fit for the domestic conditions of China.