Improved first-trimester aneuploidy risk assessment: an evolving challenge of training in invasive prenatal diagnosis.

摘要

The introduction of first-trimester Down syndrome risk assessment has resulted in two important advances in prenatal care: a decrease in fetal loss, due to a reduction in invasive diagnostic procedures, and earlier diagnosis of chromosomal aneuploidy. Two recent studies, one from Denmark and the other from the UK (the latter in this issue of the Journal), analyzed the impact on invasive prenatal diagnosis of the introduction of a national policy of screening for Down syndrome. Both studies confirmed these advances by documenting a reduction in the total number of invasive procedures performed for prenatal karyotyping and a redistribution of the proportion of procedures performed by amniocentesis and chorionic villus sampling (CVS).