EUCROMIC (European Collaborative Research on Mosaicism in Chorionic Villus Sampling): New initiatives concerning uniparental disomy research and long-term clinical follow-up

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133294

DeLozier-Blanchet, C D; Hahnemann, J M; Vejersley, L O

Since 1986 the European collaborative study on mosaicism in chorionic villus sampling (CVS), based in Glostrup, Denmark. has been collecting cytogenetic and clinical data on pregnancies in which testing revealed mosaicism or fetal/extrafetal chromosomal discrepancies. From 1986-1992, data on 60,823 samples, including 751 mosaics and 241 nonmosaic discrepancies, was collected. This information has proven helpful in prenatal counseling, by indicating which chromosomes are most often involved in mosaicism, whether the latter is likely to be confirmed in the fetus and/or placenta, and the relationship of cytogenetic results obtained by different culture techniques to pregnancy outcome. Since December 1, 1993 the European collaborative study has been funded by the European Community and by the Swiss government as a concertation project, {open_quotes}EUCROMIC{close_quotes}, a step which has allowed enlargement of the database and broadening of the project goals. Forty-five genetics centers are currently involved in this effort to monitor not only CVS, but changing trends in prenatal diagnosis in Europe. Two ancillary projects, based in Geneva, were initiated in early 1993: long-term clinical follow-up of children born after CVS mosaicism, and a search for uniparental disomy (UPD) in these same children (as well as in abortuses). Clinical data is collected from the initial reporting centers via questionnaires; at the time of writing, clinical follow-up has been obtained for over 250 children liveborn after CVS mosaicism. UPD testing results are received from the individual centers; for those not having the possibility to do the parental origin analyses themselves, testing is offered in one of several EUCROMIC-UPD laboratories.

• OSTI ID: 133294
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
COORDINATED RESEARCH PROGRAMS
DIAGNOSIS
EUROPE
FETUSES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOMES
MOSAICISM
PLACENTA
PREGNANCY