Toward the effective surveillance of hypospadias.

Concern about apparent increases in the prevalence of hypospadias--a congenital male reproductive-tract abnormality--in the 1960s to 1980s and the possible connection to increasing exposures to endocrine-disrupting chemicals have underlined the importance of effective surveillance of hypospadias prevalence in the population. We report here the prevalence of hypospadias from 1980 to 1999 in 20 regions of Europe with EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers, 14 of which implemented a guideline to exclude glanular hypospadias. We also report data from the England and Wales National Congenital Anomaly System (NCAS). Our results do not suggest a continuation of rising trends of hypospadias prevalence in Europe. However, a survey of the registers and a special validation study conducted for the years 1994-1996 in nine EUROCAT registers as well as NCAS identified a clear need for a change in the guidelines for registration of hypospadias. We recommend that all hypospadias be included in surveillance, but that information from surgeons be obtained to verify location of the meatus, and whether surgery was performed, in order to interpret trends. Investing resources in repeated special surveys may be more cost-effective than continuous population surveillance. We conclude that it is doubtful whether we have had the systems in place worldwide for the effective surveillance of hypospadias in relation to exposure to potential endocrine-disrupting chemicals

Socioeconomic Barriers to Informed Decisionmaking Regarding Maternal Serum Screening for Down Syndrome: Results of the French National Perinatal Survey of 1998

Objectives. We sought to evaluate socioeconomic disparities in serum screening for Down syndrome and assess whether such disparities are more likely to reflect limits in access or information or, rather, informed decisionmaking. Methods. A nationally representative sample of 12 869 French women completed interviews after giving birth. Results. We found substantial disparities in the likelihood of (1) women not being offered screening, (2) screening not being offered as a result of late prenatal care, and (3) women not knowing whether or not they had undergone screening. Except in the case of nationality, there was essentially no evidence of differences in refusal of testing. Conclusions. Rather than representing informed decisionmaking, socioeconomic disparities in screening for Down syndrome are mostly due to limits in access or to information

A population-based evaluation of the impact of antenatal screening for Down's syndrome in France, 1981-2000.

OBJECTIVE: To evaluate the impact of policy and practice changes in prenatal screening for Down's syndrome on prenatal diagnosis and live birth prevalence of Down's syndrome. DESIGN: Population-based observational study. SETTING: Greater Paris. POPULATION: Residents of Greater Paris who gave birth or had a termination of pregnancy in Paris during 1981-2000 (approximately 38,000 births per year). METHODS: Data on 1916 cases of Down's syndrome were obtained from the Paris Registry of Congenital Anomalies. Analyses included binomial and Poisson models of trends in three periods: prior to 1989 (reference period), 1989-1995 (reimbursement of amniocentesis in case of ultrasonographic anomalies) and 1996-2000(widespread use of reimbursed serum screening and measurement of nuchal translucency). MAIN OUTCOME MEASURES: Trends in proportion of Down's syndrome cases diagnosed prior to birth; live birth prevalence of Down's syndrome. RESULTS: The proportion of Down's syndrome detected prenatally for women 38 years of age, the increase was 1.5-fold. The live birth prevalence of Down's syndrome decreased by 3% per year (prevalence ratio [PR] 0.97, 95% CI 0.96-0.99); the age-adjusted decrease was 13%. The analysis by period showed that the decrease in live birth prevalence of Down's syndrome was greater after 1988. CONCLUSIONS: By far, most cases of Down's syndrome are currently detected prenatally in the Parisian population. Consequently, the live birth prevalence of Down's syndrome has decreased despite consistent trends towards delayed childbearing. These positive public health effects have to be balanced against a relatively high rate of amniocentesis and the potentially negative consequences of widespread prenatal testing for individuals born with Down's syndrome

Advances in Medical Technology and Creation of Disparities: The Case of Down Syndrome

Objectives. We assessed socioeconomic differences in probabilities of prena-tal diagnoses of Down syndrome and continuation of pregnancies after such diagnoses, along with the effects of these differences on disparities in live-birth prevalences of Down syndrome. Methods. Using population-based data derived from 1433 cases of Down syndrome and 3731 control births, we assessed age-adjusted effects of maternal occupation and geographic origin on prenatal diagnoses, as well as overall and live-birth odds, of Down syndrome. Results. Maternal occupation and geographic origin had significant effects on the probability of a prenatal diagnosis of Down syndrome and on continuation of pregnancy after such a diagnosis. Women in lower-status occupational categories had higher odds of delivering a live-born infant with Down syndrome. In comparison with women in the highest-status occupational category, the age-adjusted odds ratio for a Down syndrome live birth among women without an occupation was 2.4 (95% confidence interval [CI] = 1.7, 3.3). By contrast, there were no disparities in age-adjusted overall likelihood of Down syndrome. Conclusions. Socioeconomic differences in use of prenatal testing have created disparities in the live-birth prevalence of Down syndrome. Overall Down syndrome risk does not vary according to socioeconomic status

Adoption and fostering of babies with Down syndrome: a cohort of 593 cases.

International audienceRecently, professionals in France have noticed an increase in newborns with Down syndrome (DS) being placed for adoption. The aim of this study was to investigate DS babies given up at birth for adoption and to consider the possible determinants of this in order to assess social acceptance of DS. A retrospective cohort of all living DS babies was collected from two birth-defect registries (Paris: 1981-1990; Marseilles area: 1984-1990). Follow-up data were collected: characteristics of the baby, biological parents and maternity units, age when given up for adoption, and type of foster care. The results showed that 19.4 per cent of infants with DS (115/593) were rejected by their parents. Multiple regression analysis indicated that foreign origin of the mother, area of residence, no associated major malformation, maternal age (15-24 years), and birth rank (> 2) variables were significantly associated with a lower placement rate. Among the 115 abandoned infants with DS, 88 came from unknown parentage (76.5 per cent). For half of them, adoptive placement (88/115) occurred before the age of 6 months. Socio-cultural attitudes play a great part in these family decisions. Equally important is the manner in which professionals propose adoption as an alternative to these parents of DS babies. They should be encouraged to consider all options before making a decision, so that the best solution can be found for the interest of all

Trends in prenatal diagnosis, pregnancy termination, and perinatal mortality of newborns with congenital heart disease in France, 1983-2000: a population-based evaluation.

OBJECTIVE: To examine population-based overall and malformation-specific trends in the prenatal diagnosis, pregnancy termination, and perinatal mortality for congenital heart disease (CHD) during a period of rapid progress in prenatal diagnosis and medical management of CHD and to explore the impact of prenatal diagnosis on early neonatal mortality for specific (isolated) cardiac malformations. METHODS: A total of 1982 cases of CHD, which were not associated with a known chromosomal anomaly, were obtained from the Paris Registry of Congenital Malformations. Main outcome measures were trends in the proportions diagnosed and terminated before birth, stillbirth, and early (<1 day, 1-week) neonatal mortality for (1) all cases; (2) all cases excluding isolated ventricular septal defects; and (3) malformation-specific trends for transposition of great arteries, hypoplastic left heart syndrome, coarctation of aorta, and tetralogy of Fallot. Analyses included cusum and binomial regression models for analysis of the trends during 1983-2000. RESULTS: Prenatal diagnosis rates for CHD increased from 23.0% (95% confidence interval [CI]: 19.0-27.4) in 1983-1988 to 47.3% (95% CI: 43.8-50.8) in 1995-2000. Termination rates increased between 1983 and 1989 (9.9%; 95% CI: 7.2-13.2) and 1989 and 1994 (14.7%; 95% CI: 12.3-17.4) but seemed to remain stable thereafter. Other than for hypoplastic left heart syndrome, pregnancy termination was exceptional for the other 3 specific malformations examined. Early neonatal mortality decreased to less than one third in the period 1995-2000 as compared with 1983-1989 (risk ratio, first-week mortality: 0.31; 95% CI: 0.18-0.53). First-week mortality was significantly lower for cases of transposition of great arteries that were diagnosed before birth (risk difference: 15.4%; 95% CI: 4.0-26.7). CONCLUSIONS: Progress in clinical management, together with policies for increased access to prenatal diagnosis, has resulted in both a substantial increase in the prenatal diagnosis and considerable reductions in early neonatal mortality of CHD in the Parisian population