Ongoing studies


Title of the Study
Principal Investigator(s)
Short Description
Epidemiology of selected rare congenital anomalies
Michele Santoro, Alessio Coi
The main objective of the study is to provide epidemiological information on four selected congenital anomalies (Achondroplasia, Dandy Walker, Pierre Robin, Aplasia cutis) in Europe.
Pregnancy-related, lifestyle and environmental maternal risk factors for the VACTERL association and the distribution of VACTERL anomalies.
Romy van de Putte
The study aims to describe the broad spectrum of combinations of anomalies present as part of the VACTERL association and to investigate pregnancy-related, lifestyle and environmental maternal risk factors for the VACTERL association using data of EUROCAT.
Investigation of prevalence of sirenomelia in Wales.
Christopher Emerson
The study aims to systematically evaluate the rates of sirenomelia in Wales and compare them with other regions/countries.
Epidemiology of congenital heart disease in Europe: a register-based study.
Judith Rankin
The study examines trends in the prevalence of CHD in Europe.
Epidemiology of clubfoot in Europe.
Judith Rankin
The aim of this study is to describe the epidemiology of clubfoot in Europe.
Neural tube defects and anomalies of other systems in Europe.
Julian Little
The main objective of the study is to document the extent of variation in Europe over the period 1980-2015 in the proportion of cases of neural tube defects that have anomalies of other systems, and suggest factors that may account for this variation.
Assisted reproductive technologies (ART), multiple pregnancies and risk of imprinting disorders syndrome.
Babak Khoshnood
The main objective of this study is to examine the potential risk of several syndromes due to imprinting disorders in relation to different methods of ART (inductors of ovulation only, in vitro fertilization (IVF) with or without IntraCytoplasmic Sperm Injection (ICSI)).


Symposia and Workshops