David E Mutton

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OBJECTIVES To revise the estimates of maternal age specific live birth prevalence of Down's syndrome in the absence of antenatal screening and selective termination using newly available data. SETTING AND DESIGN Data were used from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all antenatally or postnatally(More)
The chance of two chromosome abnormalities occurring in one conceptus is very small. However, some authors have suggested that double aneuplodies (DAs) might be more common than the product of their individual frequencies. The nonrandomness of such DA events was considered to be evidence that nondisjunction (NDJ) may be genetically determined. Data(More)
Data from the New York State Chromosome Registry on over 10,000 cases of Down syndrome reported from 1977 to 1996 confirm findings in the England and Wales Cytogenetic Register that in mosaic 46/47,+21 cases of Down syndrome the male/female ratio (as inferred from XY and XY karyotypes respectively) is less than 1.0 as opposed to the ratio in nonmosaic(More)
This study describes the characteristics of karyotypes leading to phenotypic Down syndrome (trisomy 21) in 29,256 cases diagnosed between 1989 and 2009 in England and Wales included in the National Down Syndrome Cytogenetic Register (NDSCR). The frequency of occurrence of the different karyotypes, proportions diagnosed prenatally, sex ratios, mean maternal(More)
Data from the National Down Syndrome Cytogenetic Register is used to describe the cytogenetics and epidemiology of registered cases. The register comprises notifications from cytogenetics laboratories in England and Wales. This report is of 5737 cases registered between 1989 and 1993: 2169 prenatal and 3436 postnatal diagnoses, and 132 spontaneous(More)
OBJECTIVES To determine the risk of a Down syndrome (DS) live birth for women 45 years of age and over. METHODS A meta-analysis of data from five published articles, 13 EUROCAT congenital anomaly population registers and two unpublished sources. RESULTS Information was available on the number of DS live births occurring amongst 13,745 live births to(More)
OBJECTIVE To examine the feasibility of a national register of Down's syndrome and its effectiveness in evaluating prenatal screening for the syndrome. DESIGN Information for the register was obtained from all eligible cytogenetic laboratories on relevant cytogenetic diagnoses, including date and place of birth or termination, maternal age, indication for(More)
OBJECTIVES To display and compare the different published formulae that specify the association between maternal age and the risk of a Down syndrome live birth. METHODS Papers published since 1987 on the prevalence of Down syndrome live births in relation to maternal age were located using MEDLINE and the references given in other papers. The data series(More)
All clinical cytogenetic laboratories in England and Wales notify the register anonymously of trisomy 21 or related karyotypes, together with the date, place of and indications for referral, parental age, and family history. Most send a copy of the notification to the referring physician for confirmation and completion. The outcome of the pregnancy is(More)