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PURPOSE Although an increasing number of copy-number variations are being identified as susceptibility loci for a variety of pediatric diseases, the penetrance of these copy-number variations remains mostly unknown. This poses challenges for counseling, both for recurrence risks and prenatal diagnosis. We sought to provide empiric estimates for penetrance(More)
BACKGROUND Age-specific effects of mammographic screening, and the timing of such effects, are a matter of debate. The results of the UK Age trial, which compared the effect of invitation to annual mammographic screening from age 40 years with commencement of screening at age 50 years on breast cancer mortality, have been reported at 10 years of follow-up(More)
Antenatal screening for Down syndrome was introduced a quarter of a century ago. The risk of fetal loss due to amniocentesis and the costs of the procedure restrict antenatal diagnosis to women who are at high risk of having an affected pregnancy. Initially the only method of screening women to identify older women for the diagnostic test. In 1988, the(More)
BACKGROUND There is evidence that some mothers of infants with Down's syndrome have abnormal metabolism of folate and methyl, as well as mutations in folate genes, which are features that are also seen in neural-tube defects (NTD). We therefore investigated whether Down's syndrome and NTD arise more often in the same family than would be expected from the(More)
A trial in the UK to study the effect on mortality from breast cancer of invitation for annual mammography from the age of 40-41, has randomised a total of 160 921 women in the ratio 1 : 2 to the intervention and control arms. All breast cancers diagnosed in the two arms have been identified, and the histology reviewed. This paper presents the results of an(More)
Nineteen centres collaborated in a study to determine the efficiency of maternal serum-alpha-fetoprotein (A.F.P.) measurement as a method of screening for neural-tube defects (N.T.D.S.) between 10 and 24 weeks of pregnancy. Data were collected on 18 684 singleton pregnancies and 163 twin pregnancies without fetal N.T.D.s, and on 301 singleton pregnancies(More)
BACKGROUND Antenatal screening has the capacity to detect more than 90% of Down's syndrome pregnancies leading to therapeutic abortion. Successes in recent years with such so-called 'secondary' prevention have not been matched with progress in primary prevention. Despite considerable research over many decades the principle cause of the disorder is unknown.(More)