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Contenuto archiviato il 2022-12-23

Europeen Collaborative Research on Mosaicism in CVS

Obiettivo



Sofar the use of prenatal diagnosis, the rate of cytogenetic discordance, and the techniques applied in Central and Eastern European Countries and the states of the former Soviet Union has not been registered in total. Especially in countries with limited resources for prenatal diagnosis, it is important to consider the need for confirmatory sampling and analysis. This information is gained and distributed through EUCROMIC. The collaborators suggested for the study provide data on prenatal diagnosis, which are otherwise not obtainable. Consistent with the goals of EUCROMIC, the dialogue established through the extended collaboration would 1) improve the effectiveness and efficiency of prenatal diagnosis, 2) provide access to data for harmonisation of clinical decisions and genetic
counselling, and 3) establish a network for monitoring the development and introduction of new techniques for prenatal diagnosis. EUCROMIC was established as an EU Concerted action December 1993. Data on 60,823 diagnostic chorionic villus biopsies are registered from 45 European cytogenetic centres from 15 countries for the years 1986 to 1992. Mosaicism was reported in 1.24% of the samples. The use of long term culture increased slightly during the last years, perhaps because the first period showed a 1.2% rate of mosaicism by direct/short-term culture, in contrast to the 0.6% found after long-term culture. Evidence for fetal non-mosaicism was found in 92.8%. However, 1.7% of children born after a prenatal diagnosis of mosaicism had chromosome aberrations in blood samples. Some numerical aberrations are observed only in the placenta; the recurrent trisomy 7 in CVS was never observed in fetal tissue. In 1986-1987 mosaicism was confirmed by amniocentesis before induced abortion in 6/29 cases while the corresponding number for 1988-19B9 was 8/28. Verification of CVS by amniocentesis decreased in 1992. The goal is to establish a network of institutions performing prenatal diagnosis in the countries listed as eligible by the EU commission (23 centres). The analyses accomplished in the project period are registered in the database and the local results compared to the compiled data.

Invito a presentare proposte

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Meccanismo di finanziamento

CSC - Cost-sharing contracts

Coordinatore

John F.Kennedy Institute
Contributo UE
Nessun dato
Indirizzo
7,Gl.Landevej
2600 Glostrup
Danimarca

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Costo totale
Nessun dato

Partecipanti (2)