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OBJECTIVE: To assess long-term trends in disparities for prenatal diagnosis of Down syndrome in relation to policy changes. DESIGN: Population-based observational study. SETTING: Paris. POPULATION: Residents of Paris who gave birth or had a termination of pregnancy in Paris during 1983-2003 (approximately 23,000 births per year). METHODS: Using population-based data from the Paris Registry of Congenital Malformations on 1934 cases of Down syndrome, we assessed differences in prenatal diagnosis proportions by maternal profession and geographical origin for the years 1983-2003. Analyses included locally weighted scatter plot smoother curves and binomial regression. MAIN OUTCOME MEASURE: Trends in proportion of Down syndrome cases diagnosed prior to birth for different maternal occupation groups and women of different geographical origins. RESULTS: The proportion of prenatally diagnosed cases increased substantially, reaching to about 85-90% of cases in 2003 for most socio-economic groups. This increase was accompanied by a significant decrease in disparities in prenatal diagnosis. Nonetheless, the proportion of prenatally diagnosed cases remained 12% lower for women without a profession compared with those in the highest occupational category (maternal age-adjusted risk difference -12.0%, 95% CI -17.1 to -6.9). CONCLUSIONS: Together with the implementation of policies aimed at providing access to prenatal screening for all women, socio-economic differences in prenatal diagnosis of Down syndrome decreased over time. These trends need to be monitored, particularly in light of technical advances and alternative strategies for prenatal testing. However, while monitoring the proportion of cases with prenatal diagnosis is important, the ideal evaluation of prenatal testing programmes should also include measures of informed choice.
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Síndrome de Down/diagnóstico , Diagnóstico Prenatal/tendencias , Adulto , África/etnología , Síndrome de Down/epidemiología , Empleo , Femenino , Política de Salud , Accesibilidad a los Servicios de Salud , Humanos , Edad Materna , Paris/epidemiología , Embarazo , Características de la Residencia , Factores de Riesgo , Factores SocioeconómicosRESUMEN
OBJECTIVES: To assess recent trends in the prevalence of Down syndrome and the proportion of cases with a prenatal diagnosis in the Parisian population. PATIENTS AND METHODS: Four hundred and ninety-nine cases of Down syndrome were registered by the Paris Registry of Congenital Anomalies during the period 2001-2005. All cases with prenatal diagnosis were confirmed by cytogenetic examination. We analyzed trends in the total and live birth prevalence, the proportion of cases with a prenatal diagnosis and those with a pregnancy termination, as well as gestational age at diagnosis and termination. Analyses were stratified by maternal age and trends were tested by the Cochran-Armitage test and Anova. RESULTS: Total prevalence of Down syndrome remained high (37.6 per 10,000 births, 95%CI 34.2-40.9) during this period because of advanced maternal age in Paris. The proportion of cases with a prenatal diagnosis (overall average 85.5%, 95% CI 81.8-88.1), and live birth prevalence of Down syndrome (7.1 per 10,000 live births, 95%CI 5.7-8.6) have remained fairly stable over time. The great majority of women (95% CI 95% 92.7-96.9) opted for a pregnancy termination following a prenatal diagnosis of Down syndrome. A trend towards an earlier gestational age at prenatal diagnosis was noted among women less than 30 years of age. DISCUSSION AND CONCLUSION: It is important to continue to evaluate changes in the prenatal diagnosis of Down syndrome, notably in view of potential changes in screening practices and policies, and particularly if a first trimester strategy is adopted following recent recommendation by the "Haute Autorité de santé".
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Aborto Inducido , Síndrome de Down/diagnóstico , Síndrome de Down/epidemiología , Edad Materna , Diagnóstico Prenatal , Aborto Inducido/estadística & datos numéricos , Adulto , Femenino , Humanos , Recién Nacido , Masculino , Paris/epidemiología , Embarazo , PrevalenciaRESUMEN
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 prior to birth, stillbirth and early (<1 day, one-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%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 a 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 diagnosed before birth (risk difference: 15.4%; 95% CI: 4.0-26.7). CONCLUSION: 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.
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OBJECTIVE: To assess the effects of sociodemographic and health-provider factors on women's understanding of abnormal results on measurement of nuchal translucency (NT) and maternal serum screening (MSS), 18 months after the implementation of a policy aimed at increasing women's awareness regarding MSS. METHODS: A representative sample of women (n = 734) who gave birth in Parisian maternity units in 1999 were asked about their understanding of an abnormal result on MSS and NT. We assessed the effects of sociodemographic and health-provider factors on the probability of women interpreting an abnormal result correctly, misinterpreting it as a definitive diagnosis, or declaring that they did not know how to interpret the result. Response rate was 92% and the analyses included multinomial models. RESULTS: For both MSS and NT measurement, the majority of women interpreted an abnormal result correctly. However, there were substantial sociodemographic differences in the probability of women interpreting an abnormal result correctly, and more so in the probability of their declaring not to know how to interpret the result. The probability of correct interpretations was substantially higher, and that of declaring not to know how to interpret the result substantially lower, for MSS than NT measurement. However, for several sociodemographic groups, the proportion of women who misinterpreted an abnormal result on screening as indicative of a definitive diagnosis was also higher for MSS as compared with NT measurement. CONCLUSIONS: These findings underscore the need for additional efforts, along with alternative strategies, to inform women about the implications of prenatal screening, particularly in the case of measurement of NT.
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Actitud Frente a la Salud , Síndrome de Down/diagnóstico , Medida de Translucencia Nucal/psicología , Diagnóstico Prenatal/psicología , Adulto , Síndrome de Down/sangre , Escolaridad , Femenino , Humanos , Edad Materna , Educación del Paciente como Asunto/métodos , Embarazo , Diagnóstico Prenatal/métodos , Encuestas y CuestionariosRESUMEN
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 women 45 years of age and over. Information was also available on DS pregnancies diagnosed prenatally that were subsequently terminated. These pregnancies were adjusted for expected fetal loss to estimate the number of live births that would have occurred in the absence of prenatal diagnoses, when a total of 471 DS live births were estimated to have occurred. The risk of a DS birth did not increase for women 45 years of age and over. The average risk was 34 per 1000 births (95% CI: 31-37). CONCLUSION: The risk of a DS live birth for women 45 years of age and over is considerably lower than has often been previously assumed. The most likely explanation is that women of this age are more likely to miscarry DS pregnancies than younger mothers.
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Amniocentesis , Síndrome de Down/epidemiología , Síndrome de Down/etiología , Edad Materna , Resultado del Embarazo/epidemiología , Adulto , Síndrome de Down/diagnóstico , Europa (Continente)/epidemiología , Femenino , Humanos , Recién Nacido , Persona de Mediana Edad , Embarazo , Factores de RiesgoRESUMEN
OBJECTIVES: To assess overall and malformation-specific trends in the prevalence, prenatal diagnosis and pregnancy termination of congenital malformations in the Parisian population. METHODS: We used data from the Paris Registry of Congenital Malformations, which includes all births and pregnancy terminations with structural birth defects or chromosomal anomalies. Data on total and live birth prevalence were available for the period 1981-2000 and for prenatal diagnosis and pregnancy terminations for 1983-2000. Twenty malformations were selected for malformation-specific analyses due to their higher frequency and consistent definitions in different classification systems. RESULTS: For the period 1981-2000, the overall total prevalence of malformations was 3.2%. Prenatal diagnosis rates consistently increased from 16.2% (95% CI, 13.8-18.6) of cases with malformation in 1983 to 69.1% (95% CI, 66.7-71.5) in 2000. Pregnancy terminations increased from 8.8% (95% CI, 7.0-10.8) of cases with malformation in 1983 to 30.1% (95% CI, 27.7-32.6) in 2000. CONCLUSION: Registries of congenital malformations provide population-based data on the prevalence of malformations and their associations with other anomalies. Registry-based data can also be used to evaluate the impact of prenatal testing policies for congenital malformations.
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Anomalías Congénitas/diagnóstico , Anomalías Congénitas/epidemiología , Diagnóstico Prenatal , Sistema de Registros , Adulto , Femenino , Humanos , Recién Nacido , Paris/epidemiología , Vigilancia de la Población , Embarazo , Prevalencia , Factores de TiempoRESUMEN
BACKGROUND: EUROCAT is a network of population-based registries for the epidemiologic surveillance of congenital anomalies covering approximately one quarter of births in the European Union. Down syndrome constitutes approximately 8% of cases of registered congenital anomaly in Europe, with over 7000 affected pregnancies in the 15 current member states of the European Union each year. In this paper, we aim to examine trends in the live birth prevalence of Down syndrome in Europe in the light of trends in maternal age and in prenatal diagnosis. METHODS: Descriptive analysis of data from 24 EUROCAT registries, covering 8.3 million births 1980-99. Cases include live births, stillbirths and terminations of pregnancy following prenatal diagnosis. RESULTS: Since 1980, the proportion of births to mothers of 35 years of age and over has risen quite dramatically from 8 to 14% for the European Union as a whole, with steeper rises in some regions. By 1995-1999, the proportion of "older" mothers varied between regions from 10% to 25%, and the total prevalence (including terminations of pregnancy) of Down syndrome varied from 1 to 3 per 1000 births. Some European regions have shown a more than twofold increase in total prevalence of Down syndrome since 1980. The proportion of cases of Down syndrome which were prenatally diagnosed followed by termination of pregnancy in 1995-1999 varied from 0% in the three regions of Ireland and Malta where termination of pregnancy is illegal, to less than 50% in 14 further regions, to 77% in Paris. The extent to which terminations of pregnancy were concen trated among older mothers varied between regions. The live birth prevalence has since 1980 increasingly diverged from the rising total prevalence, in some areas remaining approximately stable, in others decreasing over time. CONCLUSION: The rise in average maternal age in Europe has brought with it an increase in the number of pregnancies affected by Down syndrome. The widespread practice of prenatal screening and termination of pregnancy has in most of the regions covered by EUROCAT counteracted the effect of maternal age in its effect on live birth prevalence. Under the joint influences of maternal age and prenatal screening the pattern of geographic inequalities in Down syndrome live birth prevalence in Europe has also been changed.
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Síndrome de Down/epidemiología , Adulto , Europa (Continente)/epidemiología , Femenino , Humanos , Edad Materna , Prevalencia , Sistema de RegistrosRESUMEN
OBJECTIVES: To assess at a population-based level the frequency with which severe structural congenital malformations are detected prenatally in Europe and the gestational age at detection, and to describe regional variation in these indicators. METHODS: In the period 1995-1999, data were obtained from 17 European population-based registries of congenital malformations (EUROCAT). Included were all live births, fetal deaths and terminations of pregnancy diagnosed with one or more of the following malformations: anencephalus, encephalocele, spina bifida, hydrocephalus, transposition of great arteries, hypoplastic left heart, limb reduction defect, bilateral renal agenesis, diaphragmatic hernia, omphalocele and gastroschisis. RESULTS: The 17 registries reported 4366 cases diagnosed with the 11 severe structural malformations and of these 2300 were live births (53%), 181 were fetal deaths (4%) and 1863 were terminations of pregnancy (43%); in 22 cases pregnancy outcome was unknown. The overall prenatal detection rate was 64% (range, 25-88% across regions). The proportion of terminations of pregnancy varied between regions from 15% to 59% of all cases. Gestational age at discovery for prenatally diagnosed cases was less than 24 weeks for 68% (range, 36-88%) of cases. There was a significant relationship between high prenatal detection rate and early diagnosis (P < 0.0001). For individual malformations, the prenatal detection rate was highest for anencephalus (469/498, 94%) and lowest for transposition of the great arteries (89/324, 27%). Termination of pregnancy was performed in more than half of the prenatally diagnosed cases, except for those with transposition of the great arteries, diaphragmatic hernia and gastroschisis, in which 30-40% of the pregnancies with a prenatal diagnosis were terminated. CONCLUSION: European countries currently vary widely in the provision and uptake of prenatal screening and its quality, as well as the "culture" in terms of decision to continue the pregnancy. This inevitably contributes to variation between countries in perinatal and infant mortality and in childhood prevalence and cost to health services of congenital anomalies.
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Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/epidemiología , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/epidemiología , Ultrasonografía Prenatal , Aborto Inducido/estadística & datos numéricos , Comparación Transcultural , Europa (Continente)/epidemiología , Femenino , Muerte Fetal/epidemiología , Edad Gestacional , Humanos , Cooperación Internacional , Embarazo , Prevalencia , Sistema de RegistrosRESUMEN
The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Routine serum screening was offered in four of the 11 countries and routine screening on the basis of maternal age amniocentesis in all. The results show that overall 53% of cases of trisomy 21 were detected prenatally with a range from 3% in Lithuania to 88% in Paris. Ninety-eight percent of women whose babies were diagnosed before 24 weeks gestation chose to terminate the pregnancy. Centres/countries that offer serum screening do not have a significantly higher detection rate of trisomy 21 when compared to those that offer maternal age amniocentesis and anomaly scanning only. Fifty percent of trisomy 21 cases were born to women aged 35 years or more. In conclusions, second trimester ultrasound plays an important role in the prenatal diagnosis of trisomy 21. Of those cases prenatally diagnosed, 64% of cases in women <35 years and 36% of those in women >or=35 years were detected because of an ultrasound finding. Ultrasound soft markers accounted for 84% of the scan diagnoses. There is evidence of increasing maternal age across Europe with 50% of cases of trisomy 21 born to women aged 35 years or more.
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Síndrome de Down/diagnóstico , Sistema de Registros , Ultrasonografía Prenatal , Síndrome de Down/diagnóstico por imagen , Europa (Continente) , Femenino , Edad Gestacional , Humanos , Tamizaje Masivo , Edad Materna , Embarazo , Resultado del EmbarazoRESUMEN
This study evaluated the prenatal diagnosis of Turner syndrome by ultrasound examination in an unselected population from all over Europe. Data from 19 congenital malformation registries from 11 European countries were analyzed. Turner syndrome was diagnosed in 125 cases (7.2%) in a total of 1,738 chromosome abnormalities. Sixty-seven percent of cases were detected prenatally by ultrasound examination due to the presence of congenital defects. The most frequent anomalies were cystic hygroma (59.5%) and hydrops fetalis (19%). The most frequent karyotype was 45,X (81.6%) followed by different types of mosaicism (16.8%). Significant differences in congenital defects (P = 0.0003) were observed between 45,X karyotypes and 45,X mosaicism cases. Prenatal counseling for 45,X mosaicism should take into account the expectation of a milder phenotype. In 78.6% of cases diagnosed by ultrasound examination due to congenital anomalies, the pregnancy was terminated. Prenatal detection of Turner syndrome by ultrasound examination was high in this unselected population.
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Síndrome de Turner/diagnóstico , Ultrasonografía Prenatal/normas , Adolescente , Adulto , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/diagnóstico por imagen , Europa (Continente) , Femenino , Edad Gestacional , Humanos , Cariotipificación , Edad Materna , Embarazo , Sistema de Registros/estadística & datos numéricos , Sensibilidad y Especificidad , Síndrome de Turner/diagnóstico por imagen , Síndrome de Turner/genética , Ultrasonografía Prenatal/métodosRESUMEN
The aim of the present study was to evaluate the prenatal detection of rare chromosomal autosomal abnormalities by ultrasound (US) examination. Data were obtained from 19 congenital malformation registries from 11 European countries, between 01/07/96 and 31/12/98. A total of 664,340 births were covered and 7,758 cases with congenital malformations were recorded. Rare autosomal abnormalities were diagnosed in 114 cases (6.6%) from a total of 1,738 chromosome abnormalities. There were a wide variety of autosomal abnormalities: the most common were deletions (33 cases), duplications (32 cases), trisomies of chromosomes 8, 9, 10, 14, 15, and 16 (23 cases), and unbalanced rearrangements (19 cases). Out of these cases, 45.6% were detected prenatally by US examination due to the presence of congenital anomaly. As for the types of chromosomal anomaly, unbalanced rearrangements and deletions were the most frequently detected by US. A high percentage of cases with balanced rearrangements were associated with severe congenital anomalies. The most frequent congenital anomalies detected by US were cystic hygroma (20.6%), central nervous system defects (17.6%), cardiac defects (13.2%), and diaphragm defects (10.3%). This large series offers useful information about prenatal diagnosis by US of congenital defects associated with rare autosomal abnormalities and it provides a valuable knowledge about outcome. Fetal anomalies detected by US that were associated with rare autosomal abnormalities were significantly more frequent than those associated with common chromosomal abnormalities (45.6 vs. 34.7%). This study indicates the need to increase the detection of congenital anomalies by US.
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Aberraciones Cromosómicas/estadística & datos numéricos , Trastornos de los Cromosomas/diagnóstico por imagen , Trastornos de los Cromosomas/genética , Ultrasonografía Prenatal , Trastornos de los Cromosomas/epidemiología , Europa (Continente)/epidemiología , Femenino , Pruebas Genéticas/estadística & datos numéricos , Humanos , EmbarazoRESUMEN
OBJECTIVE: To assess mothers' knowledge of screening tests for trisomy 21. STUDY DESIGN: Interview of all women who had recently delivered a healthy child and were present in 15 Paris maternity units during one of the two non-consecutive days in June 1999 (N = 734). RESULTS: Two-third said that they had access to a nuchal translucency measurement (NTM) and to maternal serum screening (MSS), and 16% to amniocentesis. Thirty-eight percent of the women who had NTMs and 69% of those who had serum screening said that they had been informed of the need for amniocentesis if the results were abnormal. Among the women who had amniocentesis, 20% did not know the risk of miscarriage and 41% had not been informed about the possibility of terminating the pregnancy if trisomy 21 was diagnosed. CONCLUSIONS: Mothers' knowledge about the screening tests for trisomy 21 remains fragmentary. Providing comprehensive information about all these tests should be considered in early pregnancy so that women can make informed choices.
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Síndrome de Down/diagnóstico , Enfermedades Fetales/inmunología , Conocimientos, Actitudes y Práctica en Salud , Madres , Adulto , Amniocentesis , Estudios Transversales , Recolección de Datos , Síndrome de Down/ultraestructura , Femenino , Humanos , Tamizaje Masivo/estadística & datos numéricos , Paris , Embarazo , Diagnóstico PrenatalRESUMEN
The objective of this study was to evaluate the prenatal detection of chromosomal abnormalities by fetal ultrasonographic examination in a large database provided by 19 Registries of Congenital Anomalies from 11 European countries. This study included 1738 cases of chromosomal abnormalities, liveborn, stillborn or termination of pregnancy regardless of maternal age from a population of 664,340 births during the period 1996 - 1998. The most frequent chromosomal anomalies were Down syndrome (n=1050), trisomy 18 (n=191), Turner syndrome (n=125), trisomy 13 (n=86), and triploidy (n=56). Fetal ultrasonographic examination resulted in the prenatal detection of 37.7% of the chromosomal abnormalities, thereby resulting in a reduction of 28.6% in their prevalence at birth due to terminations of pregnancy. The detection rate by ultrasound examination varied according to local policies of prenatal diagnosis : it was lower in countries where routine scan were not performed and higher in countries in which at least one routine anomaly scan during the second trimester of pregnancy was performed. The ultrasound detection varied according to the specific chromosomal anomaly and was lowest for Klinefelter syndrome (5.7%) and highest for triploidy (78.6%). For Down syndrome it was 26.4%. Termination of pregnancy was performed in 75.9% of the cases. Among the 655 cases detected by ultrasound, the most frequent ultrasound signs by category of chromosomal abnormalities were analysed. This study shows that ultrasound screening is an important tool in the prenatal detection of chromosomal abnormalities in Europe, leading to a significant reduction in the prevalence of livebirth children with chromosomal anomalies.
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Anomalías Múltiples/diagnóstico por imagen , Aberraciones Cromosómicas/estadística & datos numéricos , Ultrasonografía Prenatal/estadística & datos numéricos , Adulto , Artefactos , Aberraciones Cromosómicas/clasificación , Síndrome de Down/diagnóstico por imagen , Europa (Continente)/epidemiología , Femenino , Humanos , Linfangioma Quístico/diagnóstico por imagen , Embarazo , Resultado del Embarazo/epidemiología , Sistema de Registros , Trisomía , Síndrome de Turner/diagnóstico por imagenRESUMEN
Objective: To describe and compare the information obstetricians and geneticists in five European countries report they would give following the prenatal diagnosis of Klinefelter syndrome. Methods: 388 obstetricians and 269 geneticists from Germany, the Netherlands, Portugal, Spain and the UK completed a brief questionnaire assessing two variables: the information they reported providing to parents following the prenatal diagnosis of Klinefelter syndrome (categorized as positive or negative); and their perceptions of the quality of life with the condition. Results: Geneticists were more likely than obstetricians to report providing more positive than negative information about Klinefelter syndrome than equal amounts of positive and negative information or more negative than positive information about the condition (excess positive information). Regardless of specialty, the information that health professionals reported providing was predicted by their perceptions of the quality of life with the condition, and the country from which they came. Those perceiving quality of life as greater were more likely to provide an excess positive information, as were health professionals from Germany and the UK. Conclusions: These results suggest that the information parents across Europe receive after the prenatal diagnosis of Klinefelter syndrome varies according to the specialty and country of the health professionals consulted, and their perceptions of quality of life with the condition. This variation seems to reflect personal, cultural and professional differences between health professionals. Copyright 2002 S. Karger AG, Basel
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PURPOSE: The study goal was to assess teratogenic effects of antiepileptic drugs (AEDs) through the use of a surveillance system (MADRE) of infants with malformations. METHODS: Information on all malformed infants (1990-1996) with maternal first-trimester drug exposure was collected by the International Clearinghouse for Birth Defects and Monitoring Systems (ICBDMS). Cases were defined as infants presenting with a specific malformation, and controls were defined as infants presenting with any other birth defect. Exposure was defined by the use of AEDs during the first trimester of pregnancy. The association of AEDs with malformations was then estimated by calculating the odds ratios with 95% confidence intervals and testing their homogeneity among registries. RESULTS: Among 8005 cases of malformations, 299 infants were exposed in utero to AEDs. Of those exposed to monotherapy, 65 were exposed to phenobarbital, 10 to methylphenobarbital, 80 to valproic acid, 46 to carbamazepine, 24 to phenytoin, and 16 to other AEDs. Associations were found for spina bifida with valproic acid. Infants exposed to phenobarbital and to methylphenobarbital showed an increased risk of oral clefts. Cardiac malformations were found to be associated with phenobarbital, methylphenobarbital, valproic acid, and carbamazepine. Hypospadias was associated with valproic acid. Porencephaly and other specified anomalies of brain, anomalies of face, coarctation of aorta, and limb reduction defects were found to be associated with valproic acid. CONCLUSIONS: Using the MADRE system, we confirmed known teratogenic effects of AEDs. We also found increased risks for malformations that had never been reported associated with AEDs or for which the association was suggested by case reports.
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Anomalías Inducidas por Medicamentos/epidemiología , Anticonvulsivantes/efectos adversos , Bases de Datos Factuales/estadística & datos numéricos , Epilepsia/tratamiento farmacológico , Anomalías Inducidas por Medicamentos/etiología , Anticonvulsivantes/uso terapéutico , Femenino , Salud Global , Humanos , Embarazo , Vigilancia de Productos Comercializados/estadística & datos numéricos , Sistema de Registros/estadística & datos numéricos , Factores de Riesgo , Organización Mundial de la SaludRESUMEN
OBJECTIVES: To analyze the patient's point of view concerning pregnancy termination for fetal anomaly. METHODS: A questionnaire concerning the different steps of medical termination of pregnancy was given to 103 women on day 2 after termination. RESULTS: Most women thought that they were the ones who should make the decision (67%). Complete information prior to the procedure was greatly appreciated (81%). Physical pain remained one of the main concerns for patients given Dilapan. 94% of the women had epidural anesthesia before induction. Various mourning patterns were observed. Only 41% of the women wished to see their baby after termination; there was a correlation with age of pregnancy and social environment. Psychological assistance involved the entire team and a consultation with a pedopsychiatrist (81%). The most painful moment was the moment when breaking the new of the fetal anomaly. CONCLUSION: The women were very much in need of expressing their sorrow very soon after the event. Team work and lack of rigidity in care taking enhances the expression of individual resources, both by the medical team and the patients. Three points were highlighted by the patients.--the desire to participate in the decision making;--the importance of in-depth information on technical aspects of the procedure;--initial new breaking is recognized as a major trauma.
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Aborto Terapéutico/psicología , Anomalías Congénitas , Abortivos , Adulto , Analgesia , Anestesia Epidural , Femenino , Humanos , Educación del Paciente como Asunto , Participación del Paciente , Polímeros , Embarazo , Encuestas y CuestionariosRESUMEN
The results and limitations of current French practices for prenatal diagnosis (PND) of trisomy 21 were examined, using population-based data from the Paris Registry for 1992-97 (219 000 births). Of 670 cases of trisomy 21 reported, 71.0 per cent were terminations of pregnancy (TOP). The PND rate among mothers 38 years and older, all of whom were offered amniocentesis, was 89.9 per cent. Nearly all affected births in this age class followed maternal decisions, either to refuse amniocentesis or continue the affected pregnancy. In younger mothers, the overall French prenatal screening policy (three ultrasound examinations plus serum screening from January 1997) led to an overall PND rate of 67.3 per cent; it reached 78.8 per cent in 1997. Ultrasound accounted for 73.4 per cent of diagnosed cases. Increased detection by nuchal translucency measurement is clearly visible from 1996 onward. The birth prevalence, 8.7 per 10 000 births, diminished only slightly over the study period. The increase observed in the total number of cases in 1996 and 1997, concomitant with PND practice trends, may be due primarily to earlier TOP, which precedes miscarriages that would otherwise have occurred without being recorded. Future trends in prevalence among births must be observed carefully.
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Síndrome de Down/epidemiología , Diagnóstico Prenatal , Adulto , Factores de Edad , Síndrome de Down/diagnóstico , Femenino , Política de Salud , Humanos , Estudios Longitudinales , Edad Materna , Paris/epidemiología , Embarazo , Resultado del Embarazo , Embarazo de Alto Riesgo , Prevalencia , Sistema de RegistrosRESUMEN
A drug utilization study was performed using data of the OECM study on Occupational Exposures and Congenital Malformations, which was conducted in six European Registries of Congenital Anomalies (two in France, two in Italy, one in Great Britain, and one in The Netherlands): the mothers were interviewed after delivery for exposures during pregnancy, including use of therapeutic drugs. The analysis of drug use considered only the 1134 control mothers of healthy newborns, and focused on the first trimester of pregnancy: 36.2% of the interviewed mothers used at least one drug (excluding vitamins and minerals) during the first trimester. This rate varied from 22.5% in Glasgow to 50.3% and 44.2% in the French centers. Anti-infectives were the most frequent drugs (12.3% of mothers), then antinauseants (10.6%), and treatments for threatened abortion (5.5%). Important variations between countries were observed, reflecting different medical attitudes towards drug use during pregnancy.
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Revisión de la Utilización de Medicamentos/estadística & datos numéricos , Embarazo , Adulto , Distribución de Chi-Cuadrado , Femenino , Francia , Humanos , Italia , Países Bajos , Primer Trimestre del Embarazo , Factores Socioeconómicos , Reino UnidoRESUMEN
Recently, 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.