Prenatal Screening for Chromosomal Abnormalities: Where do We Stand Today in Mediterranean Countries?

Over the last 4 decades the practice of prenatal screening has evolved from the second-trimester triple test to complex combinations of biophysical and biochemical testing for aneuploidy, testing of fetal DNA in the maternal circulation and development of screening tests for adverse pregnancy outcomes. Presently, combined test in the 1 trimester is the preferred multimarker screening protocol in most countries. Since 2010, cell-free fetal DNA (cffDNA) in maternal plasma, in combination with the next generation sequencing techniques, made a big breakthrough step in screening for Down Syndrome (DS) and other aneuploidies. It seems that the position of cffDNA in the current screening strategies is a secondary contingent use to combined test, at least as long as its price is still high and its use as a primary test is not cost effective. Concerning the situation in Mediterranean countries, at least with those who answered the questionnaire, screening in the 1 trimester is an established practice, reimbursed from social security organizations, and not compulsory. cffDNA is used in all countries and its average cost is about 500 €.