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

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

What is the effect of self-identified HIV activism in willingness to participate in HIV cure-related clinical trials? Results from the ANRS-APSEC study.

International audienceEnrolling people living with HIV with undetectable viral load into HIV cure-related clinical trials (HCRCT) is challenging. Few data are currently available about the individual factors that influence willingness to participate in HCRCT (WPHCRCT). We hypothesised that WPHCRCT would be more frequent among people living with HIV considering themselves HIV activists. The objective of this study was to investigate the individual characteristics associated with both WPHCRCT and self-identification as an HIV activist

What is the effect of self-identified HIV activism in willingness to participate in HIV cure-related clinical trials? Results from the ANRS-APSEC study.

International audienceEnrolling people living with HIV with undetectable viral load into HIV cure-related clinical trials (HCRCT) is challenging. Few data are currently available about the individual factors that influence willingness to participate in HCRCT (WPHCRCT). We hypothesised that WPHCRCT would be more frequent among people living with HIV considering themselves HIV activists. The objective of this study was to investigate the individual characteristics associated with both WPHCRCT and self-identification as an HIV activist

Preventive neural tube defects in europe: A missed opportunity

Each year, more than 4500 pregnancies in the European Union are affected by neural tube defects (NTD). Unambiguous evidence of the effectiveness of periconceptional folic acid in preventing the majority of neural tube defects has been available since 1991. We report on trends in the total prevalence of neural tube defects up to 2002, in the context of a survey in 18 European countries of periconceptional folic acid supplementation (PFAS) policies and their implementation. EUROCAT is a network of population-based registries in Europe collaborating in the epidemiological surveillance of congenital anomalies. Representatives from 18 participating countries provided information about policy, health education campaigns and surveys of PFAS uptake. The yearly total prevalence of neural tube defects including livebirths, stillbirths and terminations of pregnancy was calculated from 1980 to 2002 for 34 registries, with UK and Ireland estimated separately from the rest of Europe. A meta-analysis of changes in NTD total prevalence between 1989-1991 and 2000-2002 according to PFAS policy was undertaken for 24 registries. By 2005, 13 countries had a government recommendation that women planning a pregnancy should take 0.4mg folic acid supplement daily, accompanied in 7 countries by government-led health education initiatives. In the UK and Ireland, countries with PFAS policy, there was a 30% decline in NTD total prevalence (95% CI 16-42%) but it was difficult to distinguish this from the pre-existing strong decline. In other European countries with PFAS policy, there was virtually no decline in NTD total prevalence whether a policy was in place by 1999 (2%, 95% CI 28% reduction to 32% increase) or not (8%, 95% CI 26% reduction to 16% increase). The potential for preventing NTDs by periconceptional folic acid supplementation is still far from being fulfilled in Europe. Only a public health policy including folic acid fortification of staple foods is likely to result in large-scale prevention of NTDs

International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?

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 Netherlands, England and Wales, Ireland, France (Paris, Strasbourg, and Central East), Hungary, Italy (Emilia Romagna and Campania), Portugal, and Israel. Cases of neural tube defects were ascertained among liveborn infants, stillbirths, and pregnancy terminations (where legal). Policies and recommendations were ascertained by interview and literature review. Main outcome measures Incidences and trends in rates of neural tube defects before and after 1992 (the year of the first recommendations) and before and after the year of local recommendations (when applicable). Results The issuing of recommendations on folic acid was followed by no detectable improvement in the trends of incidence of neural tube defects. Conclusions Recommendations alone did not seem to influence trends in neural tube defects up to six years after the confirmation of the effectiveness of folic acid in clinical trials. New cases of neural tube defects preventable by folic acid continue to accumulate. A reasonable strategy would be to quickly integrate food fortification with fuller implementation of recommendations on supplements