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Before the organisation of breast cancer predictive testing in France, consultands' attitudes towards this kind of testing and towards passing on information about the family cancer risk to their relatives were investigated. This survey was carried out from January 1994 to January 1995 at six specialised cancer genetic clinics located in different parts of(More)
The aim of this study was to determine in healthy consultees attending cancer genetics clinics their risk status, their pathways leading to the clinics, their expectations and perception of cancer risk. In 1994, the consultees at six French centres completed a questionnaire before their first oncogenetic consultation. The oncogeneticists subsequently filled(More)
Breakpoint distribution was studied from cultured lymphocytes on 7653 metaphases from 524 subjects whose karyotypes were normal. The mean break rate was 5% in both sexes. The frequency increased significantly after 40 years and varied during the year. The location of the breaks was very different from the expected random distribution. The break frequency(More)
Dermal patterns in a group of Down's syndrome patients, a normal control population and a group of parents of Down's syndrome patients were studied in an attempt to identify an Index Score to be used in differentiating controls from parents of Down's syndrome children. Using only three patterns (simian crease, palmar hypothenar pattern and Cummins' Index),(More)
STUDY OBJECTIVE The aims were (1) to assess whether termination of pregnancy after prenatal screening by ultrasound affected the prevalence of congenital anomalies at birth, and (2) to examine the trend of this pattern over time. DESIGN This study deals with congenital anomalies, possibly detectable prenatally or at birth, which were classified as(More)
Gentic is a computerized system for the storage, recall, and analysis of data collected by the Medical Genetics Center in Marseille, France. It is based on a standard case report file that includes a full clinical description of all patients, results of cytogenetic investigations, and details of the genetic counseling provided. GENTIC has been used since(More)
The objective of this study was to explore women's attitudes towards prenatal diagnosis of trisomy 21 and to examine some of the factors possibly responsible for these attitudes before implementing in real practice serological screening of pregnant women at risk for trisomy 21. We carried out a telephone survey on a representative sample of women who had(More)
Previous studies, as early as 1984, have demonstrated the efficiency of maternal serum markers to screen for Down syndrome. These markers were AFP, hCG, oestriol and beta-1-glycoprotein. A pilot study was initiated in France in 1990 to evaluate these markers. It lasted from May 1990 until April 1991. 22,410 pregnancies were monitored in total, and 19,407(More)