Back to the program

Prenatal screening for Down syndrome : A review of current practices in the European Union

Michael BLACKMORE

Down syndrome (DS) is the most common chromosomal abnormality. Various combinations of biological, ultrasound, and genetic markers are used to calculate the risk of fetal DS. The recent use of circulating free fetal DNA (cfDNA) has revolutionized screening policies by increasing the sensitivity and specificity of screening and limited the number of invasive tests.The objective is to describe the strategies adopted by the 27 EU countries in 2024 and to investigate possible harmonization following the discovery of cfDNA.A descriptive review of the literature was conducted and supplemented by expert contributions from several European countries contacted specifically. The results were synthesized to answer twelve research criteria.Combined screening is used in all European countries, and used as a first line test in 21 countries. cfDNA testing is used as a first-line test in four countries, and recommended after risk calculation by combined screening in 13 countries. The prevalence of screening is over 80%.  The strategy comes as an official national programme for 16 countries. Some form of antenatal screening is at least partially reimbursed in 25 countries.  The methods used to inform couples about screening vary : dedicated consultation, information guide or routine test.  In most countries, DNA analysis has been extended to include the detection of other genetic abnormalities. The termination of pregnancy after antenatal diagnosis of DS is authorised in 24 countries, mostly up to 22 or 24 weeks of pregnancy and performed in 70 to 100% of cases.Since the discovery of cfDNA, practices have evolved and two prenatal screening techniques remain : combined screening and cfDNA. The societal context varies : in several countries, screening is perceived as mandatory and the inclusion of people with disabilities is difficult. The widespread and extensive use of cfDNA raises ethical questions about access, legal framework for its use, preparatory information and ultimate purpose of this screening.European harmonisation has been successful from a technical standpoint, but remains illusory on other aspects. General practitioners face numerous challenges : provide information helping couples to make enlightened decisions, discuss the use of cfDNA, and encourage inclusion while respecting couples' choices.