Prenatal diagnosis of birth defects for pregnant women with advanced age

Abstract

Usually, invasive prenatal diagnosis of birth defects is necessary for pregnant women with advanced age. The classic technology is evaluation of fetal chromosome karyotype which is performed by cytogenetic analysis of amniotic fluid fetal exfoliated cells through amniocentesis in the second trimester. For some pregnant women who were unfit or refused to accept invasive prenatal diagnosis, the application of new technology makes assessment of risk of fetal abnormalities more accurate. When screening is used to assess risk of fetal abnormalities, the women should be told that the screening technologies cannot substitute for invasive diagnosis testing of fetal exfoliated cells, the reason of older pregnancy and both advantages and limitations of the prenatal diagnosis and screening technologies should be considered, and the risks of invasive prenatal diagnosis and risk of missed diagnosis of abnormal fetal in selection of prenatal diagnosis strategy for pregnant women with advanced age should be compared.(Chin J Lab Med, 2016, 39: 401-403) Key words: Pregnancy; Maternal age; Prenatal diagnosis; Congenital abnormalities