Socioeconomic inequalities in risk of congenital anomaly.

AIMS: To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups. METHODS: A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk near hazardous waste landfill sites. As a measure of socioeconomic status, cases and controls were given a value for the area level Carstairs deprivation index, by linking the postcode of residence at birth to census enumeration districts (areas of approximately 150 households). RESULTS: Risk of non-chromosomal anomalies increased with increasing socioeconomic deprivation. The risk in the most deprived quintile of the deprivation index was 40% higher than in the most affluent quintile. Some malformation subgroups also showed increasing risk with increasing deprivation: all cardiac defects, malformations of the cardiac septa, malformations of the digestive system, and multiple malformations. No evidence for socioeconomic variation was found for other non-chromosomal malformation groups, including neural tube defects and oral clefts. A decreasing risk with increasing deprivation found for all chromosomal malformations and Down's syndrome in unadjusted analyses, occurred mainly as a result of differences in the maternal age distribution between social classes. CONCLUSION: Our data, although based on limited numbers of cases and geographical coverage, suggest that more deprived populations have a higher risk of congenital anomalies of non-chromosomal origin and some specific anomalies. Larger studies are needed to confirm these findings and to explore their aetiological implications.

Prenatal diagnosis in Luxembourg.

Social and medical issues regarding prenatal diagnosis in Luxembourg are addressed. The organisation and the overall impact of amniocentesis on aneuploid births are described. Legal aspects are discussed as are future developments.

Prenatal diagnosis in Spain.

An overview of the national organisation of prenatal diagnosis (PND) in Spain is presented. Although PND is technically well developed and the number of prenatal services seems to be adequate, the uneven distribution between regions is reflected in a different prevalence reduction of chromosomal disorders and congenital malformations. Only about 41% or pregnant women use PND, with a wide range (14-64%) between regions. There is no national policy in PND or maternal serum screening for Down's syndrome, but local policies. As clinical genetics is not an officially recognised speciality, there is a shortage of clinical geneticists and it is difficult to organise PND activities and regulate them by law.

A cost-effectiveness analysis of amniocentesis and chorionic villus sampling for prenatal genetic testing.

Amniocentesis and chorionic villus sampling are tests for the prenatal diagnosis of cytogenetic abnormalities. We calculated the incremental costs per abnormal birth averted, and the incremental costs per quality-adjusted outcome, of amniocentesis and chorionic villus sampling performed for the indication of maternal age. Probabilities were obtained from the literature, and direct medical costs from hospital charges deflated to reflect aggregated contracted care reimbursements. Utilities were used to quality-adjust prenatal testing outcomes. Based on costs per abnormal birth averted, at all maternal ages from 30 to 43 years, amniocentesis was more cost-effective than chorionic villus sampling; at ages 44 and 45, chorionic villus sampling was more cost-effective. However, if the anxiety reduction provided by first-trimester diagnosis was equivalent to a 0.2% risk of an abnormal child, chorionic villus sampling was more cost-effective than amniocentesis at all maternal ages. Based on data from the 1988 United States natality cohort, the current policy of testing women aged 35 and older would cost $103,329 and $111,184 per abnormal birth averted for amniocentesis and chorionic villus sampling, respectively. Testing women aged 30 and older would almost double these costs. For either prenatal test, targeting high risk women for testing, and striving for utilization rates of 50% or higher, appeared to be the most cost-effective policy.

Race, consanguinity and social features in Birmingham babies: a basis for prospective study.

STUDY OBJECTIVE: The aim of the study was to investigate the influence of consanguinity on children's health. DESIGN: The study is a prospective survey from birth to five years of a cohort of babies born in a multiracial community. This report details the initial findings on consanguinity. SETTING: Participating families live predominantly in three health districts of Birmingham, and were recruited in three local maternity hospitals. PARTICIPANTS: Babies of 2432 European mothers, 509 Afro-Caribbean mothers, 625 Indian mothers, 956 Pakistani mothers, and 216 Bangladeshi mothers have been enrolled in the study. Eighty mothers refused to participate. MEASUREMENTS AND RESULTS: Sociodemographic information was obtained using a structured questionnaire administered at interview. Interview data were supplemented with obstetric information from the medical records. The highest prevalence of parental consanguinity was in Pakistani Muslims (69%), whereas in Muslims from other countries it was 23%, and it was less than 1% in non-Muslims. In the majority of consanguineous Muslim pedigrees the degree of inbreeding was greater than that for first cousin parents. CONCLUSIONS: This prospective study will allow an assessment to be made about any ill health in childhood arising from parental consanguinity, about whether screening programmes are indicated for particular autosomal recessive diseases, and about whether premarital health education might be beneficial. The study has also documented parental ages in different races and this, together with the levels of parental consanguinity in all races, will be useful in genetic methods for assessing the frequency of recessive genes, the possibility of genetic heterogeneity, and whether or not parental age effect exists for new mutations of specific genetic disorders.

Chromosome abnormalities in selected newborn infants with malformations in Brazil.

Between 1982 and 1985, 109 infants were referred for cytogenetic examination out of a population of 73,192 liveborn infants from eight maternity hospitals surveyed by the ECLAMC/MONITOR program. Thirty-one of the children had a chromosome abnormality different from trisomy 21. Considering the total population surveyed, trisomy 18 was detected in 1:6,099; trisomy 13 was seen in 1:24,397 and unbalanced rearrangements were found in 1:7,319 infants. Those rates were not significantly different from the expected ones, as compared to previous cytogenetic surveys of consecutive births. We concluded that most chromosome abnormalities associated with congenital malformations can be detected at low cost, provided there is a high accuracy of clinical examination and referral criteria, as well as close cooperation between pediatricians and geneticists.

The frequency and economic burden of genetic disease in a pediatric hospital in Mexico City.

A survey of 2,945 admissions to the National Institute of Pediatrics, México, was undertaken to document the frequency and burden of genetic disorders. Patients were classified into five categories: single gene disorders; chromosomal disorders; complex genetic etiology; unknown etiology, and nongenetic disorders. Of all admissions studied, 4.3% had a genetic disease (categories 1 and 2); 33.5% had a partly genetic condition (category 3); 13.8% had a disorder of unknown etiology; and 48.4% had an environmental disease. In terms of economic burden, patients with genetic or partly genetic disorders came more frequently from outside the city and had more and longer admissions with a higher number of surgeries. The results suggest that genetic disease, although less frequent than disease caused by environmental conditions, lays a considerable financial burden on the hospital and on the affected families. The need to create genetic units in developing countries is emphasized.

[The frequency of chromosome abnormalities in farm animals and their economic consequences]. / L'incidence des anomalies chromosomiques chez les animaux de ferme et leurs conséquences économiques.

Examinations during the last two decades of the chromosome complements of various species of domestic animals have revealed the existence of a considerable number of abnormalities, including inherited rearrangements: approximately 20 in cattle, 15 in pigs (predominantly reciprocal translocations), 3 in sheep, 2 in horses (predominantly monosomy X), and 1 in goats. (The accumulation of data on the frequency of such abnormalities and evaluation of their effects on reproductive performances of carriers of inherited rearrangement depends on a number of factors including the use of artificial insemination, number or progeny per sire or dam, and differences in generation intervals of the species concerned). The economic value of the cytogenetic findings depends on the degree of exchange of information between the breeders and the cytogenetics laboratories. An example of a successful collaboration is a Swedish study of a centric fusion translocation in Swedish Red and White cattle, one that affects chromosomes 1 and 29. There, the fertility-reducing effects of the translocation led to a loss of approximately $250,000. Recognition of the significance of the translocation prompted a search for carrier bulls and their elimination from the artificial insemination units. In swine, in which artificial insemination is used much less than in cattle, data on the frequency of reciprocal translocations in general must be obtained from the farms themselves. The main effect of an inherited chromosome rearrangement is a reduction in the number of offspring, perhaps to 50%, i.e., five piglets per litter.(ABSTRACT TRUNCATED AT 250 WORDS)

The growing demand for midtrimester amniocentesis: a systems approach to forecasting the need for facilities.

A predicted shift in composition of the child-bearing population of the United States to higher maternal ages by year 2000 indicates that the number of chromosomally abnormal offspring of women age 35 and over will increase by 64% while the total number of women increases only 21%. We formulated a conceptual model of a health care system that predicts demand for amniocentesis from prospective patients in any particular region, the number of defective offspring detected, and the future cost of custodial care using any given level of detection effort. It was found that as capacity of clinic facilities and use by women age 35 and over in the area increased, the expenditure for amniocentesis combined with the cost of custodial care for undetected offspring decreased, assuming termination of affected pregnancies. Use of this model will enable health care managers to anticipate need for facilities, and also guide the formulation of social policy in the provision of new health services by enabling them to take into account the predictable effects of these services upon other public services.