EuroGentest2 Workshop on Prenatal diagnostic testing guidelines: report

EuroGentest2 Workshop on Prenatal diagnostic testing guidelines: report

2-3 May 2012

London (UK)

One of the key deliverables for WP8, ‘Quality in genetic services’ was the publication of European guidelines on prenatal diagnostic testing.

On the 2nd and 3rd May, a group of invited experts participated in a workshop held in London to develop a set of recommendations to guide prenatal diagnostic testing in Europe. The 15 participants from eight countries were: Heather Skirton, Lyn Chitty, Katia Bilardo, Lesley Goldsmith, Helena Kaariainen, Outi Kamarainen, Susan Kelly, Faustina Lalatta, Celine Lewis, Milan Macek, Olav Petersen, Thomy de Ravel, Marta Rodríguez de Alba, Maria Soller and Sally Taffinder. The relevant disciplines of medical genetics, fetal medicine and laboratory genetics were well-represented.

We agreed that the focus of the guidelines was prenatal diagnosis for women whose fetus is at increased risk of a specific condition. Such testing may be performed using invasive (such as amniocentesis, chorionic villus sampling or fetal blood sampling) or less invasive procedures (such as analysis of cell-free fetal DNA in maternal blood or fetal imaging). The guidelines do not refer to antenatal screening tests. Following presentations on the way in which prenatal diagnostic testing is offered in the eight different countries, we focussed on preparing guidelines under four main topics: the objective of prenatal diagnostic testing, general principles underpinning prenatal diagnostic testing, logistical issues involved in testing and topics for counselling in prenatal diagnosis.

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