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PURPOSE We present a case-control study of seven polymorphisms of six genes involved in homocysteine/folate pathway as risk factors for Down syndrome. Gene-gene/allele-allele interactions, haplotype analysis and the association with age at conception were also evaluated. METHODS We investigated 94 Down syndrome-mothers and 264 control-women from Campania,(More)
We studied major malformations in 5,581 infants with Down syndrome (DS) from three registers of congenital malformations. THe prevalence at birth of 23 different malformations was compared with the program-specific rates for each malformation in non-DS infants. An about 300 times risk increase was seen for annular pancreas, cataracts and duodenal atresia(More)
OBJECTIVES To evaluate the effectiveness of policies and recommendations on folic acid aimed at reducing the occurrence of neural tube defects. DESIGN Retrospective cohort study of births monitored by birth defect registries. SETTING 13 birth defects registries monitoring rates of neural tube defects from 1988 to 1998 in Norway, Finland, Northern(More)
A descriptive epidemiological study of hypospadias has been made utilizing data from seven malformation surveillance systems round the world: Denmark, Hungary, Italy, Mexico, South America, Spain, and Sweden. The joint material represents 8,122 boys with hypospadias, 7,419 of which were "isolated", that is, with no other known malformation except those(More)
The epidemiology and genetics of microtia-anotia (M-A) were studied using data collected from the Italian Multicentre Birth Defects Registry (IPIMC) from 1983 to 1992. Among 1,173, 794 births, we identified 172 with M-A, a rate of 1.46/10,000; 38 infants (22.1%) had anotia. Of the 172 infants, 114 (66.2%) had an isolated defect, 48 (27.9%) were multiformed(More)
Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is(More)
STUDY OBJECTIVE To provide an international perspective on the impact of congenital anomalies on infant mortality from 1950 to 1994. DESIGN Population-based study based on data obtained from vital statistics reported to the World Health Organisation. SETTINGS 36 countries from Europe, the Middle East, the Americas, Asia, and the South Pacific. RESULTS(More)