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151. EUROmediCAT signal detection: an evaluation of selected congenital anomaly‐medication associations

Author

Given, Joanne E., primary, Loane, Maria, additional, Luteijn, Johannes M., additional, Morris, Joan K., additional, de Jong van den Berg, Lolkje T.W., additional, Garne, Ester, additional, Addor, Marie‐Claude, additional, Barisic, Ingeborg, additional, de Walle, Hermien, additional, Gatt, Miriam, additional, Klungsoyr, Kari, additional, Khoshnood, Babak, additional, Latos‐Bielenska, Anna, additional, Nelen, Vera, additional, Neville, Amanda J., additional, O'Mahony, Mary, additional, Pierini, Anna, additional, Tucker, David, additional, Wiesel, Awi, additional, and Dolk, Helen, additional

Published
2016
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152. Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

Author

Dolk, Helen, primary, Wang, Hao, additional, Loane, Maria, additional, Morris, Joan, additional, Garne, Ester, additional, Addor, Marie-Claude, additional, Arriola, Larraitz, additional, Bakker, Marian, additional, Barisic, Ingeborg, additional, Doray, Berenice, additional, Gatt, Miriam, additional, Kallen, Karin, additional, Khoshnood, Babak, additional, Klungsoyr, Kari, additional, Lahesmaa-Korpinen, Anna-Maria, additional, Latos-Bielenska, Anna, additional, Mejnartowicz, Jan P., additional, Nelen, Vera, additional, Neville, Amanda, additional, O'Mahony, Mary, additional, Pierini, Anna, additional, Rißmann, Anke, additional, Tucker, David, additional, Wellesley, Diana, additional, Wiesel, Awi, additional, and de Jong-van den Berg, Lolkje T.W., additional

Published
2016
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153. Beckwith Wiedemannov sindrom - europska epidemiologijska studija

Author

Boban, Ljubica, Barišić, Ingeborg, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, and EUROCAT Working group

Subjects
Beckwith Wiedemannov sindrom
Abstract

Beckwith Wiedemannov sindrom - europska epidemiologijska studija.

Published
2013

154. Insulin analogues use in pregnancy among women with pregestational diabetes mellitus and risk of congenital anomaly: a retrospective population-based cohort study.

Author

Hao Wang, Wender-Ozegowska, Ewa, Garne, Ester, Morgan, Margery, Loane, Maria, Morris, Joan K., Bakker, Marian K., Gatt, Miriam, de Walle, Hermien, Jordan, Susan, Materna-Kiryluk, Anna, Nelen, Vera, Thys, Guy, Wiesel, Awi, Dolk, Helen, and de Jong-van den Berg, Lolkje T. W.

Abstract

Objectives To evaluate the risk of major congenital anomaly associated with first-trimester exposure to insulin analogues compared with human insulin in offspring of women with pregestational diabetes. Design and setting A population-based cohort of women with pregestational diabetes (n=1661) who delivered between 1996 and 2012 was established retrospectively from seven European regions covered bythe European Surveillance of Congenital Anomalies (EUROCAT) congenital anomaly registries. Primary outcome measures The risk of nonchromosomal major congenital anomaly in live births, fetal deaths and terminations for a fetal anomaly exposed to insulin analogues in the first trimester of pregnancy was compared with the risk in those exposed to human insulin only. Results During the first trimester, 870 fetuses (52.4%) were exposed to human insulin only, 397 fetuses (23.9%) to insulin analogues only and 394 fetuses (23.7%) to both human insulin and insulin analogues. The risk of major congenital anomaly in fetuses exposed to insulin analogues only was lower than those exposed to human insulin only; the relative risk adjusted for glycaemic control and region was 0.56 (95% CI 0.29 to 1.06). The significantly lower risk related to exposure of insulin analogues only was observed in congenital heart defects: adjusted relative risk 0.14 (95% CI 0.03 to 0.62). Conclusions In this retrospective population-based cohort study across Europe, first-trimester exposure to insulin analogues did not increase the risk of major congenital anomaly compared with exposure to human insulin. A possible lower risk of congenital heart defects among fetuses exposed to insulin analogues only deserves further investigation. [ABSTRACT FROM AUTHOR]

Published
2018
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155. Intrauterine exposure to carbamazepine and specific congenital malformations

Author

Jentink, Janneke, Dolk, Helen, Loane, Maria A., Morris, Joan K., Wellesley, Diana, Garne, Ester, de Jong-van den Berg, Lolkje, Bakker, Marian, EUROCAT Antiepileptic Study Working Group, Verellen-Dumoulin, C., Nelen, V., Barisic, I., Garne, E., Khoshnood, B., Doray, B., Poetzsch, S., Wiesel, A., O'Mahony, M., Pierini, A., Rivieri, F., Gatt, M., Bakker, M., Melve, K., Latos-Bielenska, A., Mejnartowicz, JP., Portillo, I., Addor, MC., Tucker, D., and Reproductive Origins of Adult Health and Disease (ROAHD)

Subjects
Pediatrics, Dentistry and Oral Medicine, Epilepsy, Pregnancy, Risk Factors, Drugs: Psychiatry, Prevalence, Medicine, EPILEPSY, General Environmental Science, TERATOGENESIS, RISK, General Engineering, Congenital Heart Disease, ANTIEPILEPTIC DRUGS, Abnormalities, Drug-Induced, General Medicine, Europe, Carbamazepine, PREGNANCY, Prenatal Exposure Delayed Effects, Anticonvulsants, Female, Abnormalities, Drug-Induced/epidemiology, Abnormalities, Drug-Induced/etiology, Anticonvulsants/adverse effects, Carbamazepine/adverse effects, Case-Control Studies, Epilepsy/drug therapy, Epilepsy/epidemiology, Europe/epidemiology, Humans, Infant, Newborn, Pregnancy Complications/drug therapy, Pregnancy Complications/epidemiology, Pregnancy Trimester, First, Prenatal Exposure Delayed Effects/epidemiology, Prenatal Exposure Delayed Effects/etiology, medicine.drug, Cohort study, medicine.medical_specialty, IN-UTERO, Lamotrigine, VALPROIC ACID, MAJOR MALFORMATIONS, Urological Surgery, FETAL, Internet, business.industry, Spina bifida, Research, Case-control study, Odds ratio, medicine.disease, Surgery, Pregnancy Complications, Oesophagus, Epidemiologic Studies, Reproductive Medicine, LAMOTRIGINE, General Earth and Planetary Sciences, carbamazepine, intrauterine, business
Abstract

Objective To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy.Design A review of all published cohort studies to identify key indications and a population based case-control study to test these indications.Setting Review of PubMed, Web of Science, and Embase for papers about carbamazepine exposure in the first trimester of pregnancy and specific malformations, and the EUROCAT Antiepileptic Study Database, including data from 19 European population based congenital anomaly registries, 1995-2005.Participants The literature review covered eight cohort studies of 2680 pregnancies with carbamazepine monotherapy exposure, and the EUROCAT dataset included 98 075 registrations of malformations covering over 3.8 million births.Main outcome measures Overall prevalence for a major congenital malformation after exposure to carbamazepine monotherapy in the first trimester. Odds ratios for malformations with exposure to carbamazepine among cases (five types of malformation identified in the literature review) compared with two groups of controls: other non-chromosomal registrations of malformations and chromosomal syndromes.Results The literature review yielded an overall prevalence for a major congenital malformation of 3.3% (95% confidence interval 2.7 to 4.2) after exposure to carbamazepine monotherapy in the first trimester. In 131 registrations of malformations, the fetus had been exposed to carbamazepine monotherapy. Spina bifida was the only specific major congenital malformation significantly associated with exposure to carbamazepine monotherapy (odds ratio 2.6 (95% confidence interval 1.2 to 5.3) compared with no antiepileptic drug), but the risk was smaller for carbamazepine than for valproic acid (0.2, 0.1 to 0.6). There was no evidence for an association with total anomalous pulmonary venous return (no cases with carbamazepine exposure), cleft lip (with or without palate) (0.2, 0.0 to 1.3), diaphragmatic hernia (0.9, 0.1 to 6.6), or hypospadias (0.7, 0.3 to 1.6) compared with no exposure to antiepileptic drugs. Further exploratory analysis suggested a higher risk of single ventricle and atrioventricular septal defect.Conclusion Carbamazepine teratogenicity is relatively specific to spina bifida, though the risk is less than with valproic acid. Despite the large dataset, there was not enough power to detect moderate risks for some rare major congenital malformations.

Published
2010

156. The prevalence of congenital anomalies in Europe

Author

Dolk, Helen, Loane, Maria, and Garne, Ester

Subjects
Gastroschisis, Heart Defects, Congenital, Male, Hypospadias, Infant, Newborn, Stillbirth, Congenital Abnormalities, Craniofacial Abnormalities, Europe, Pregnancy, Population Surveillance, Prevalence, Humans, Female, Neural Tube Defects, Registries, Down Syndrome, Fetal Death, Hernia, Umbilical, Perinatal Mortality
Abstract

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48% of all TOPFA. Congenital heart defects (CHD) were the most common non-chromosomal subgroup, at 6.5 per 1,000 births, followed by limb defects (3.8 per 1,000), anomalies of urinary system (3.1 per 1,000) and nervous system defects (2.3 per 1,000). In 2004, perinatal mortality associated with congenital anomaly was 0.93 per 1,000 births, and TOPFA 4.4 per 1,000 births, with considerable country variation. Primary prevention of congenital anomalies in the population based on controlling environmental risk factors is a crucial policy priority, including preconceptional care and whole population approaches.

Published
2010

157. Fryns syndrome: epidemiological data from 33 European birth registries

Author

Barišić, Ingeborg, Odak, Ljubica Loane, Maria, Bianchi, Fabrizio, Calzolari, Eliza, Garne, Ester, Wellesley, Diana, and Dolk, Helen and EUROCAT Working Group

Subjects
Fryns syndrome, epidemiology, prenatal diagnosis
Abstract

Fryns syndrome (OMIM 229850) is a rare autosomal recessive malformation syndrome. The main features include diaphragmatic hernia, characteristic dysmorphic features, and distal limb anomalies. Additional malformations of central nervous system, gastrointestinal and genitourinary system can be present as well. Because of the rarity and observed phenotypic variability there is a need for better delineation of epidemiological and clinical aspects of this condition. We present data on 22 cases of Fryns syndrome reported to a large European network of congenital malformation registries (EUROCAT) in the 1980-2002 period. Prenatal ultrasound examination detected abnormalities in 13/22 (59%) fetuses. Mean gestational age at discovery of an abnormality by prenatal ultrasound was 22± ; 3.9(18-33) gestational weeks. Congenital diaphragm362880 atic hernia (20/22 or 91%), limb defects (16/22 or 72.7%), genitourinary tract anomalies (16/22 or 72.7%) and cleft palate (10/22 or 45.5%) were the most frequently found malformations. There were 4/24 (18.2%) fetal deaths, 12/22 (54.54%) pregnancy terminations and only 6/22 (27.3%) live born. Male: female ratio was 2 (14/7). The mean gestational age at birth was 33 weeks. The mean live birth weight was 1591± ; 967g for males and 2075± ; 125g for females. Only one newborn survived the first week of life. Parental consanguinity was present in 11/22 (50%) instances. In 9/22 (41%) cases previous siblings with anomalies were noted, but in only one case Fryns syndrome was confirmed. Karyotyping was performed in 9 cases and no chromosomal abnormality was found. No evidence of specific teratogenic exposure was observed.

Published
2009

158. Congenital heart hefects in Cornelia de Lange syndrome

Author

Barišić, Ingeborg, Odak, Ljubica, Loane, Maria, Bianchi, Fabrizio, Calzolari, Elisa, Garne, Ester, Wellesley, Diane, Dolk, Helen and EUROCAT Working Group, and Barišić, Ingeborg

Subjects
cardiovascular diseases, Cornelia de Lange syndrome, heart defects
Abstract

Cornelia de Lange syndrome (CdL) is a rare multiple congenital anomaly syndrome characterized by specific facial dysmorphic features, hypertrichosis, upper limb deficiency, intrauterine growth retardation, developmental delay and various associated anomalies. The aim of our study was to determine the spectrum and the proportion of congenital heart disease (CHD) in CdLS, their possible effects on prenatal detection, type of birth, time of diagnosis and survival. Methods: we analyzed 93 cases of CdL syndrome reported in 1980-2002 period to 33 European congenital malformation registries included in EUROCAT (European Surveillance of Congenital Anomalies) network. Results: CHD was found in 45% of patients with classical CdLS. The most common cardiac anomalies were ventricular septal defect (VSD) (13/93 or 31%), atrial septal defect (ASD) (10/93 or 23.8%) and pulmonary valve stenosis (PS) (9/93 or 21.4%). Comparing group of patients with CHD and without CHD, no significant differences were found regarding prenatal detection rate, gestational age at discovery, time of diagnosis, length of gestation, birth weight by sex, type of birth, or the first week survival. Conclusions: we have found a very high rate of CHD in classical CdLS, although the type/severity of CHD was such that it did not influence the outcome of pregnancy and survival. PS is found more often than expected from the distribution of CHD in general population. High rate of CHD in CdLS warrants a detailed cardiac examination in affected newborns.

Published
2009

159. Prenatal diagnisis od Fryns syndrome in Europe

Author

Odak, Ljubica, Barišić, Ingeborg, Loane, Maria, Bianchi, Fabrizio, Calzolari, Elisa, Garne, Ester, Wellesley, Diane, Dolk, Helen and EUROCAT Working Group, and Barišić, Ingeborg

Subjects
Fryns syndrome, prenatal diagnosis
Abstract

Fryns syndrome (OMIM 229850) is a rare autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, dysmorphic features and distal limb hypoplasia. Additional anomalies of genitourinary, gastrointestinal and central nervous system are also often present. Because of the severity of the disorder most cases can be detected prenatally by routine ultrasound examination, particularly if they are associated with a major malformation. The aim of this study was to present data on prenatal diagnosis of this rare syndrome in the European region. We evaluated 22 cases of Fryns syndrome, registered and confirmed in Eurocat (European Surveillance of Congenital Anomalies) network of congenital malformation registries in 1980-2002 period. Ultrasound led to the prenatal detection of 13/22 (59%) cases. Mean gestational age at discovery was 22± 1.3 (range 12-33) weeks. In 7/13 (46.2%) karyotyping was done and gave normal results. Amniocentesis was performed in 4/13 (30.8 %) and chorionic willi sampling in 3/13 (23.1 %) cases. In all prenatal detected cases we found congenital diaphragmatic hernia with associated anomalies. Of 13 prenatally detected cases, two were live born, 1 was stillbirth at 38 weeks of gestation and 10 pregnancies were terminated. Mean gestational age at termination of pregnancy was 25± 1.4 (range 17- 34) weeks. In conclusion, our data show that prenatal ultrasound examination has an important impact on the birth prevalence of Fryns syndrome in Europe, because is resulted in its 45.5% reduction as a consequence of the pregnancy termination.

Published
2009

160. Maternal age-specific risk of non-chromosomal anomalies

Author

Loane, Maria, Dolk, Helen, Morris, Joan, EUROCAT working group. Collaborators(23) Haeusler, Martin, Nelen, Vera, Barišić, Ingeborg, Garne, Ester, de Vigan, Catherine, Doray, Berenice, Queisser-Luft, Annette, Poetzsch, Simone, O'Mahony, Mary, McDonnell, B, Roche BA, Calzolari, Eliza, Pierini, Anna, Gatt, Miriam, de Walle, Heruien, Latos-Bielenska, Anna, Dias C, Mosquera- Tenreiro C, Salvador, Joaquin, Portillo, Isabel, Addor, Marie-Claude, Boyd, Patricia, and Tucker, David

Subjects
Anomalies, Non-chromosomal, Maternal risk
Abstract

OBJECTIVES: To determine the excess risk of non- chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. DESIGN AND SETTING: Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.75 million births from 2000 to 2004. PARTICIPANTS: A total of 38, 958 cases of NCA that were live births, fetal deaths with gestational age > or = 20 weeks or terminations of pregnancy following prenatal diagnosis of a congenital anomaly. MAIN OUTCOME MEASURES: Prevalence of NCA according to maternal age, and relative risk (RR) of NCA and 84 standard NCA subgroups compared with mothers aged 25-29. RESULTS: The crude prevalence of all NCA was 26.5 per 1000 births in teenage mothers (

Published
2009

161. Epidemiological study of Fraser syndrome in Europe

Author

Odak, Ljubica, Barišić, Ingeborg, Tokić, Višnja, Loane, Maria, Bianchi, Fabrizio, Calzolari, Elisa, Garne, Ester, Wellesley, Diana, and Dolk, Helen

Subjects
Fraser sindrom, Europa, epidemiološka studija
Abstract

Fraser syndrome (FS) is rare autosomal recessive condition with classical features of cryptophtalmos, syndactyly, and genitourinary malformations.Abnormalities of the skull, ears, nose and larynx are also present as well.Due to the rarity of FS, population based epidemiological studies are lacking.We present the result of analysys of 24 cases identified among 10 318 446 pregnancies registered in the EUROCAT network of congenital malformation registries in 1980-2004 period. This corresponds to a prevalence of 0.23/100000 or 1 in 429.935 births. Prenatal ultrasound examination detected abnormalities in 13/24 (54, 2%)features. Mean gestational age at discovery of an abnormality by prenatal ultrasound was 22.3+-3.2 (18-27)gestational weeks.There were 2/24 (8, 3%)fetal deaths, 9/24 (37, 5%) pregnancy termination and 13/24 (54, 2%) were live born.One third of live births did not survive the first week of life. Male:female ratio was 3.4 (17/5).The mean birth weight in live births was 2363+- 622 g for males and 2133 +- 413 g for females.The mean gestational age at birth was 37 weeks for both sexes.The most frequent associated congenital malformations were urogenital (81, 8% ; 18/22), eye (72.7% ; 16/22), and limb 59, 1% ; 13/22)anomalies. The mean maternal ageat birth was 28+- 5 years and the mean paternal age 31+-4 years. Parental consanguinity was present in 7/14 cases and four families had aldready one affected child 4/13.All cases were registered in the Western part of Europe, 12/24 (50%) cases being from Great Britain and Portugal, (prevalence 0, 49/ 100000 or 1 in 202859 births)

Published
2008

162. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome

Author

Boyd, Patricia, De Vigan, Catherine, Khoshnood, Babak, Loane, Maria, Garne, Ester, Dolk, Helen, Gillerot, Yves, Barišić, Ingeborg, Haeusler, Martin, Christiansen, Marianne, Ritvanen, Annukka, Queisser-Luft, Annette, Bob McDonnell, Bob, Calzolari, Eliza, Gatt, Miriam, de Walle, Hermien, Irgens, Lorentz, Latos-Bielenska, Anna, Feijoo, Maria, Portillo, Isabel, Ollars, Birgitta, Addor, Marie-Claude, Tucker, David, and EUROCAT Working Group

Subjects
Questionnaires, Pediatrics, medicine.medical_specialty, Down syndrome, Population, Aneuploidy, termination of pregnancy for fetal anomaly, Prenatal diagnosis, Gestational Age, prenatal screening policies, Europe, structural malformations, chromosome aberrations, neural tube defects, neural tube defect, Abortion, Induced/statistics & numerical data, Down Syndrome/diagnosis, Down Syndrome/drug therapy, Europe/epidemiology, Female, Genetic Testing/statistics & numerical data, Health Policy, Humans, Neural Tube Defects/diagnosis, Pregnancy, Pregnancy Trimesters, Prenatal Diagnosis/statistics & numerical data, Ultrasonography, Prenatal/statistics & numerical data, Ultrasonography, Prenatal, Surveys and Questionnaires, Prenatal Diagnosis, medicine, Genetic Testing, Neural Tube Defects, education, Down's syndrome, Fetal Medicine, education.field_of_study, Antenatal screening policy, Neural tube defect, business.industry, Genetic Screening, Obstetrics and Gynecology, Gestational age, Abortion, Induced, medicine.disease, Down Syndrome, business, Trisomy
Abstract

Objective To ‘map’ the current (2004) state of prenatal screening in Europe. Design (i) Survey of country policies and (ii) analysis of data from EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers. Setting Europe. Population Survey of prenatal screening policies in 18 countries and 1.13 million births in 12 countries in 2002–04. Methods (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural tube defects (NTDs) using the EUROCAT database. Main outcome measures Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. Results Ten of the 18 countries had a national country-wide policy for Down's syndrome screening and 14/18 for structural anomaly scanning. Sixty-eight percent of Down's syndrome cases (range 0–95%) were detected prenatally, of which 88% resulted in termination of pregnancy. Eighty-eight percent (range 25–94%) of cases of NTD were prenatally detected, of which 88% resulted in termination. Countries with a first-trimester screening policy had the highest proportion of prenatally diagnosed Down's syndrome cases. Countries with no official national Down's syndrome screening or structural anomaly scan policy had the lowest proportion of prenatally diagnosed Down's syndrome and NTD cases. Six of the 18 countries had a legal gestational age limit for TOPFA, and in two countries, termination of pregnancy was illegal at any gestation. Conclusions There are large differences in screening policies between countries in Europe. These, as well as organisational and cultural factors, are associated with wide country variation in prenatal detection rates for Down's syndrome and NTD. Please cite this paper as: Boyd P, DeVigan C, Khoshnood B, Loane M, Garne E, Dolk H, and the EUROCAT working group. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome. BJOG 2008;115:689–696.

Published
2008

163. Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations?

Author

Dolk, Helen, Jentink, Janneke, Loane, Maria, Morris, Joan, de Jong-van den Berg Lolkje and EUROCAT Antiepileptic Drug Working Group. Collaborators (22) Calzolari, Eliza, Barišić, Ingeborg, Wellesley, Diana, Garne, Ester, De Vigan, Catherine, de Walle, Heruien, Bakker, Marian, Gatt, Miriam, Melve, Kari, O'Mahony, Mary, Nelen, Vera, Gillerot, Yves, Rivieri, F, Pierini, Anna, Queisser-Luft, Annette, Poetzsch, Simone, Tucker, David, Portillo, Isabel, Latos- Bielenska, Anna, Mejnartowicz, Jan, Doray, Berenice, and Addor, Marie-Claude

Subjects
lamothrigine, pregnancy, orofacial cleft, risk, malformations
Abstract

To investigate whether first trimester exposure to lamotrigine (LTG) monotherapy is specifically associated with an increased risk of orofacial clefts (OCs) relative to other malformations, in response to a signal regarding increased OC risk. Population-based case- control study with malformed controls based on EUROCAT congenital anomaly registers. The study population covered 3.9 million births from 19 registries 1995-2005. Registrations included congenital anomaly among livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis. Cases were 5, 511 nonsyndromic OC registrations, of whom 4, 571 were isolated, 1, 969 were cleft palate (CP), and 1, 532 were isolated CP. Controls were 80, 052 nonchromosomal, non-OC registrations. We compared first trimester LTG and antiepileptic drug (AED) use vs nonepileptic non-AED use, for mono and polytherapy, adjusting for maternal age. An additional exploratory analysis compared the observed and expected distribution of malformation types associated with LTG use. There were 72 LTG exposed (40 mono- and 32 polytherapy) registrations. The ORs for LTG monotherapy vs no AED use were 0.67 (95% CI 0.10-2.34) for OC relative to other malformations, 0.80 (95% CI 0.11-2.85) for isolated OC, 0.79 (95% CI 0.03- 4.35) for CP, and 1.01 (95% CI 0.03-5.57) for isolated CP. ORs for any AED use vs no AED use were 1.43 (95% CI 1.03-1.93) for OC, 1.21 (95% CI 0.82-1.72) for isolated OC, 2.37 (95% CI 1.54- 3.43) for CP, and 1.86 (95% CI 1.07-2.94) for isolated CP. The distribution of other nonchromosomal malformation types with LTG exposure was similar to non-AED exposed. We find no evidence of a specific increased risk of isolated orofacial clefts relative to other malformations due to lamotrigine (LTG) monotherapy. Our study is not designed to assess whether there is a generalized increased risk of malformations with LTG exposure.

Published
2008

164. Klinička i epidemiologijska obiležja 17 slučajeva Fraserova sindroma

Author

Barišić, Ingeborg, Tokić, Višnja, Loane, Maria, Bianchi, Fabrizio, Calzolari, Elisa, Garne, Ester, Wellesley, Diana, Dolk, Helen, EUROCAT Working Group, and Barišić, Ingeborg

Subjects
Fraserov sindrom, kriptoftalmus, epidemiologija
Abstract

Fraserov sindrom izuzetno je rijedak poremećaj obilježen kriptoftalmosom, sindaktilijom, dismorfičnim crtama i urogenitalnim anomalijama. Uz to se često nalaze pridružene malformacije uške, nosa i larinksa. Prikazujemo rezultate analize 17 slučajeva Fraserovog sindroma otkrivenih među 10 318 446 trudnoća praćenih u mreži europskih registara prirođenih mana u razdobju od 1980.-2004. godine. Prevalencija Fraserovog sindroma bila je 0, 16/100 000 ili 1/625 000. Od ukupno 17 slučajeva dva su bila mrtvorođena, a osam je trudnoća prekinuto uz medicinsku indikaciju. Prenatalno je ultrazvučnim pregledom postavljena sumnja na malformacijski sindrom u deset plodova. Prosječna gestacijska dob kod postavljanja sumnje na oštećenje ploda bila je 21, 5&plusmn ; 3 (18-27) gestacijskih tjedana. Sedmero djece je bilo živorođeno. Odnos muške i ženske djece bio je 3 (12/4). Prosječna tjelesna masa novorođene muške djece je bila 2648 &plusmn ; 794 g, ženske djece 2125&plusmn ; 505 g, a prosječna gestacijska dob pri porođaju za oba spola 37 tjedana. Trećina novorođenčadi je umrla tijekom prvog tjedna života. Najčešće malformacije bile su anomalije urogenitalnog sustava 80% ; 12/15), oka (66, 7% ; 10/15) i udova (53, 3% ; 8/15). Prosječna dob majki bila je 27, 6 &plusmn ; 5, 5 godina, a prosječna dob očeva 30&plusmn ; 5 godina. Srodstvo među roditeljima registrirano je u 6 slučajeva (6/13), a u četiri obitelji već je bilo rođeno dijete s Fraserovim sindromom (4/13). Svi slučajevi su dijagnosticirani u zapadnom dijelu Europe, a 59% (10/17) ih je iz Velike Britanije i Portugala.

Published
2007

165. Epidemiology of oculo-auriculo-vertebral spectrum (OAVS): a registry-based study on European population

Author

Barišić, Ingeborg, Tokić, Višnja, Loane, Maria, Bianchi, Fabrizio, Calzolari, Eliza, Garne, Ester, Wellesley, Diana, Dolk, Helen, and van Ommen, Gert-Jan B

Subjects
oculo-auriculo-vertebral spectrum, EUROCAT, rare syndrome, registry
Abstract

Oculoariculovertebral spectrum (OAVS) is a phenotypically and genetically heterogenous disorder grouping together different conditions thought to be caused by impaired development of the first and second branchial arches including Goldenhar syndrome, facioauriculovertebral syndrome, hemifacial microsomia, and otomandibular dysostosis. We present the results of the population-based epidemiological study on the severe end of OAV spectrum. The data were extracted from the database of EUROCAT (European Surveillance of Congenital Anomalies), a large European network of birth defect registries that use the same epidemiological methodologies. Based on data collected during the 1980-2004 period, we found the prevalence of the severe OAVS cases to be 2.63/100 000 births or 1/38022. The most frequently associated congenital malformations were major ear malformations that accounted for 30% of cases (68/224). Vertebral anomalies were reported in 30% of cases (67/224), and cardiac defects were present in 25% of cases (57/224). Severe central nervous system involvement was rare (17/224 – 8%). Prenatal ultrasound examination in the period 2000-2004 detected abnormalities in 15% (16/111) of cases. Live born infants with OAVS have a high first week survival (98.5%). Maternal and paternal ages do not seem to be risk factors for OAVS. Almost 35% of patients, born after the 37th week of gestation, weighed less than 2500 g. Among 272 patients, consanguinity of parents was registered in 5 cases. OAVS among sibs was found in 4 cases, while family history for OAVS was positive in additional 10 cases. No evidence of exposure to consistent teratogenic agents including maternal diabetes was noted.

Published
2007

166. Okuloaurikulovertebralni spektrum (OAVS): analiza epidemiologijskih obilježja u europskoj populaciji

Author

Barišić, Ingeborg, Tokić, Višnja, Loane, Maria, Bianchi, Fabrizio, Calzolari, Elisa, Garne, Ester, Wellesley, Diana, Dolk, Helen, EUROCAT Working Group, and Barišić, Ingeborg

Subjects
Okuloaurikulovertebralni spektar, epidemiologija, Goldenhar sindrom
Abstract

Okuloaurikulovertebralni spektar (OAVS) (MIM 164210) obuhvaća više kliničkih entiteta uključujući Goldenharov sindrom, facioaurikulovertebralni sindrom, hemifacijalnu mikrosomiju i otomandibularnu dizostozu. Ima varijabilnu kliničku ekspresiju koja se očituje prvenstveno u poremećaju razvoja kraniofacijalnih struktura i kralježnice. Karakteristične promjene na licu obuhvaćaju različit stupanj anomalija uha i oka te unilateralnu hipoplaziju lica. Uz anomalije kralježnice, nerijetko su prisutne i malformacije drugih organa i sustava. Prikazujemo rezultate ispitivanja epidemiologijskih obilježja spektra OAVS u europskoj populaciji. Služili smo se podatcima mreže 33 europska populacijska registra prirođenih mana koji se služe istom metodologijom, što omogućava zajedničku analizu podataka. U promatranom razdoblju od 1980.-2004. godine prevalencija OAVS-a bila je 2, 63/100000 (272/10318446) ili 1/38022. Prevalencija je bila stalna tijekom cijelog promatranog razdoblja. Živorođeno je bilo 94, 5% (257/272) djece, 0, 7% (2/272) je bilo mrtvorođeno, dok je 4, 8% (13/272) pobačeno uz medicinsku indikaciju. Prvi tjedan života preživjelo je visok 98, 5% živorođenih. U razdoblju od posljednjih pet godina prenatalno je otkriveno 19, 8% slučajeva u dobi od 22, 7&plusmn ; 5 tjedana gestacije. Omjer muške i ženske djece bio je 1, 24 (150/121). Najčešće pridružene anomalije uz one definicijom uključene u OAVS bile su srčane mane 25, 4% (57/224) i urogenitalne anomalije (14, 3% ; 32/224). Roditelji 5-ero djece su u srodstvu, dok je obiteljska anamneza bila pozitivna u 14 slučajeva. Šećerna bolest majki bila je prisutna u 3.1% trudnoća.

Published
2007

167. Congenital heart defects in Cornelia de Lange, Fraser and Goldenhar syndrome - epidemiological survey of EUROCAT registries

Author

Barišić, Ingeborg, Tokić, Višnja, Loane, Maria, Bianchi, Fabrizio, Calzolari, Eliza, Garne, Ester, Wellesley, Diana, Dolk, Helen, and EUROCAT Working Group

Subjects
congenital heart defects, Cornelia de Lange syndrome, Oculo-auriculo-vertebral spectrum, Fraser syndrome, Goldenhar syndrome, OAVS
Abstract

Objectives: to determine the presence of congenital heart defects (CHD) in the three selected rare dysmorphic syndromes (Cornelia de Lange syndrome (CdLS), oculo-auriculo-vertebral spectrum (OAVS) including Goldenhar syndrome, and Fraser syndrome (FS)). Design and Participants: the data were extracted from the database of EUROCAT (European Surveillance of Congenital Anomalies), a large European network of population-based congenital anomaly registries that use the same epidemiological methodologies. Main Outcome Measures: establishing the frequency and distribution of specific types of CHD on the large population-based sample of patients affected with these rare syndromes and determining the impact of the presence of CHD on the time of the diagnosis and survival. Results: cardiac anomalies were the most common in CdLS, being present in 46% (42/93) of patients. Congenital heart defects were found in 25% (57/224) of OAVS cases and in 20% (3/15) of Fraser patients. Ventricular septal defect was the most frequent anomaly in all analysed syndromes and was recorded in 14% (13/93) of CdLS, 12% (27/224) of OAVS patients and in 7% (1/15) of FS patients. Atrial septal defect followed, with 11% (10/93), 8% (17/224) and 7% (1/15) of cases, respectively. Pulmonary valve stenosis was also frequent in CdLS (10% - 9/93). Dextrocardia was noted in 4 patients with OAVS (2%). CHD in CdLS, OAVS or FS had no significant impact on the time of the diagnosis (p=0.983, p=0.078, p= 0.164, respectively) or survival (p=0.750, p= 0.124, p= 0.261, respectively) of the cases. Conclusion: the CHD proportion in CdLS, OAVS and FS in EUROCAT population is comparable with the data from literature. Survival and time of diagnosis have not significantly affected the time of diagnosis or survival of cases.

Published
2007

168. The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance:A descriptive study

Author

Meijer, Willemijn M., Cornel, Martina C., Dolk, Helen, de Walle, Hermien E.K., Armstrong, Nicola C., de Jong-van den Berg, Lolkje T.W., Abramsky, Lenore, Addor, Marie Claude, Baena, Neus, Bakker, Marian, Barisic, Ingeborg, Bianca, Sebastiano, Boyd, Patricia, De Vigan, Catherine, Draper, Elizabeth, Garne, Ester, Gatt, Miriam, Gener, Blanca, Haeusler, Martin, Irgens, Lorentz, Jordan, Hilary, Loane, Maria, O'Mahony, M. T., Martínez-Frías, Maria Luisa, Berjemo, Eva, Mc Donnel, Bob, Nelen, Vera, Neville, Amanda, Clabrese, Olga, Rivieri, Francesca, Pierini, Anna, Bianchi, Fabrizio, Riaño Galán, Isolina, Ritvanen, Annukka, Robert-Gnansia, Elisabeth, Stoll, Claude, Soares, Maria, Tenconi, Romano, Wellesley, Diana, Wiesel, Awi, Human genetics, Groningen University Institute for Drug Exploration (GUIDE), Science in Healthy Ageing & healthcaRE (SHARE), and Reproductive Origins of Adult Health and Disease (ROAHD)

Subjects
Drug, Pediatrics, medicine.medical_specialty, drug exposure, LACTATION, Databases, Factual, Drug-Related Side Effects and Adverse Reactions, Epidemiology, media_common.quotation_subject, International Cooperation, Population, Postmarketing surveillance, Pharmacy, post-marketing surveillance, medicine, media_common.cataloged_instance, Adverse Drug Reaction Reporting Systems, Humans, Pharmacology (medical), MALFORMATIONS, Registries, EXPOSURE, European union, education, media_common, Safety surveillance, education.field_of_study, business.industry, congenital anomalies, Infant, Newborn, Abnormalities, Drug-Induced, WOMEN, Pharmacoepidemiology, medicine.disease, Europe, PREGNANCY, Pharmaceutical Preparations, REGISTRATION, CLASSIFICATION-SYSTEM, Medical emergency, Descriptive research, business
Abstract

Background European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe surveying more than I million births per year, or 25% of the births in the European Union. This paper describes the potential of the EUROCAT collaboration for pharmacoepidemiology and drug safety surveillance.Methods The 34 full members and 6 associate members of the EUROCAT network were sent a questionnaire about their data sources on drug exposure and on drug coding. Available data on drug exposure during the first trimester available in the central EUROCAT database for the years 1996-2000 was summarised for 15 out of 25 responding full members.Results Of the 40 registries, 29 returned questionnaires (25 full and 4 associate members). Four of these registries do not collect data on maternal drug use. Of the full members, 15 registries use the EUROCAT drug code, 4 use the international ATC drug code, 3 registries use another coding system and 7 use a combination of these coding systems. Obstetric records are the most frequently used sources of drug information for the registries, followed by interviews with the mother. Only one registry uses pharmacy data. Percentages of cases with drug exposure (excluding vitamins/minerals) varied from 4.4% to 26.0% among different registries. The categories of drugs recorded varied widely between registries.Conclusions Practices vary widely between registries regarding recording drug exposure information. EUROCAT has the potential to be an effective collaborative framework to contribute to post-marketing drug surveillance in relation to teratogenic effects, but work is needed to implement ATC drug coding more widely, and to diversify the sources of information used to determine drug exposure in each registry. Copyright (c) 2006 John Wiley & Sons, Ltd.

Published
2006

169. Descriptive epidemiology of Cornelia de Lange syndrome

Author

Barišić, Ingeborg, Tokić, Višnja, Loane, Maria, Bianchi, Fabrizio, Calzolari, Eliza, Garne, Ester, and Dolk, Helen

Subjects
Cornelia de Lange Syndrome, descriptive epidemiology, prevalence, associated anomalies, prenatal diagnosis, karyotype, risk factors
Abstract

CdLS is a multiple congenital anomaly/metal retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay and a variety of associated major malformations. We present results of the population-based epidemiological study of the classical form of Cornelia de Lange Syndrome (CdLS). The data were provided by 33 registries from 16 European countries. Registries participate in the large European network of birth defect registries – EUROCAT, using the same epidemiological methodologies. 106 cases of CdLS have been identified in the total of 8 604 049 births, which corresponds to a prevalence of 1.23/100000 births. There were 96 live births, 3 still births, and 6 terminations of pregnancy. Prenatal diagnosis by ultrasound examination accounts for 23.5 % of all diagnosed cases. Live born infants with CdLS have a high first week survival rate (81%). The most frequent major congenital malformations associated with CdLS are limb defects (73.1%), congenital heart defects (45.6%), central nervous system malformations (49.2%) and cleft palate (21.7%). In the majority of cases the karyotype is normal. Identified abnormal karyotypes (46, XYdel83)(q12q21), inv(5)(p13q13) and 46, XX t(X ; 22)(p11 ; qter)) presumably disrupt genes identified to be responsible for CdLS. Maternal age and paternal age do not seem to be the risk factors for CdLS. Almost 80% of the cases born after the 37th week of gestation weight less than 2500 g ; low birth weight correlates with a more severe phenotype, including severe limb anomalies. We found no evidence of exposure to consistent teratogenes.

Published
2006

170. The changing epidemiology of Ebstein's anomaly and its relationship with maternal mental health conditions: a European registry-based study.

Author

Boyle, Breidge, Garne, Ester, Loane, Maria, Addor, Marie-Claude, Arriola, Larraitz, Cavero-Carbonell, Clara, Gatt, Miriam, Lelong, Nathalie, Lynch, Catherine, Nelen, Vera, Neville, Amanda J., O’Mahony, Mary, Pierini, Anna, Rissmann, Anke, Tucker, David, Zymak-Zakutnia, Natalia, Dolk, Helen, and O'Mahony, Mary

Published
2017
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171. Prenatal diagnosis of genetic syndromes

Author

Barišić, Ingeborg, Petković Tokić, Višnja, Loane, Maria, Dolk, Helen, Tse H., Tse T., Lau C., and Woo, K.

Subjects
prenatal diagnosis, genetic syndrome
Abstract

Genetic syndromes mostly occur sporadically in couples with no prior risk. Ultrasound (US) screening provides a potential tool to detect them successfully. Due to the fact that many of these syndromes are quite rare, the clinical use of routine prenatal ultrasound in their detection has not been fully investigated. We present data on the prenatal diagnosis of nine non-chromosomal genetic syndromes provided by 25 congenital malformation registries across Europe. US led to the prenatal detection of 32% of 536 cases of analysed genetic syndromes, thereby resulting in a 24% reduction in their prevalence at birth, due to termination of pregnancy. The detection rate varies with the different countries’ policies of prenatal screening, the operator's skill, equipment used, the time of the screening and the type and severity of the syndrome presentation.

Published
2005

172. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

Author

Barisic, Ingeborg, primary, Boban, Ljubica, additional, Loane, Maria, additional, Garne, Ester, additional, Wellesley, Diana, additional, Calzolari, Elisa, additional, Dolk, Helen, additional, Addor, Marie-Claude, additional, Bergman, Jorieke EH, additional, Braz, Paula, additional, Draper, Elizabeth S, additional, Haeusler, Martin, additional, Khoshnood, Babak, additional, Klungsoyr, Kari, additional, Pierini, Anna, additional, Queisser-Luft, Annette, additional, Rankin, Judith, additional, Rissmann, Anke, additional, and Verellen-Dumoulin, Christine, additional

Published
2014
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173. Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population‐based registry study

Author

Calzolari, Elisa, primary, Barisic, Ingeborg, additional, Loane, Maria, additional, Morris, Joan, additional, Wellesley, Diana, additional, Dolk, Helen, additional, Addor, Marie‐Claude, additional, Arriola, Larraitz, additional, Bianchi, Fabrizio, additional, Neville, Amanda J., additional, Budd, Judith L.S., additional, Klungsoyr, Kari, additional, Khoshnood, Babak, additional, McDonnell, Bob, additional, Nelen, Vera, additional, Queisser‐Luft, Annette, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rounding, Catherine, additional, Tucker, David, additional, Verellen‐Dumoulin, Christine, additional, Walle, Hermien, additional, and Garne, Ester, additional

Published
2014
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174. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

Author

Barisic, Ingeborg, primary, Odak, Ljubica, additional, Loane, Maria, additional, Garne, Ester, additional, Wellesley, Diana, additional, Calzolari, Elisa, additional, Dolk, Helen, additional, Addor, Marie-Claude, additional, Arriola, Larraitz, additional, Bergman, Jorieke, additional, Bianca, Sebastiano, additional, Doray, Berenice, additional, Khoshnood, Babak, additional, Klungsoyr, Kari, additional, McDonnell, Bob, additional, Pierini, Anna, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rounding, Catherine, additional, Queisser-Luft, Annette, additional, Scarano, Gioacchino, additional, and Tucker, David, additional

Published
2014
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175. EUROCAT website data on prenatal detection rates of congenital anomalies

Author

Garne, Ester, Dolk, Helen, Loane, Maria, and Boyd, Patricia A.

Subjects
Online health care information services -- Usage, Registries (in medicine) -- Information management, Birth defects -- Information management, Prenatal diagnosis -- Information management, Online health care service, Company systems management, Health, Social sciences, EUROCAT (Internet/Web search service)
Published
2010

176. Using scan statistics for congenital anomalies surveillance: the EUROCAT methodology.

Author

Teljeur, Conor, Kelly, Alan, Loane, Maria, Densem, James, and Dolk, Helen

Subjects
HUMAN abnormalities, BIOLOGICAL monitoring, CLUSTER analysis (Statistics), MEDICAL databases, MONTE Carlo method, SIMULATION methods & models
Abstract

Scan statistics have been used extensively to identify temporal clusters of health events. We describe the temporal cluster detection methodology adopted by the EUROCAT (European Surveillance of Congenital Anomalies) monitoring system. Since 2001, EUROCAT has implemented variable window width scan statistic for detecting unusual temporal aggregations of congenital anomaly cases. The scan windows are based on numbers of cases rather than being defined by time. The methodology is imbedded in the EUROCAT Central Database for annual application to centrally held registry data. The methodology was incrementally adapted to improve the utility and to address statistical issues. Simulation exercises were used to determine the power of the methodology to identify periods of raised risk (of 1-18 months). In order to operationalize the scan methodology, a number of adaptations were needed, including: estimating date of conception as unit of time; deciding the maximum length (in time) and recency of clusters of interest; reporting of multiple and overlapping significant clusters; replacing the Monte Carlo simulation with a lookup table to reduce computation time; and placing a threshold on underlying population change and estimating the false positive rate by simulation. Exploration of power found that raised risk periods lasting 1 month are unlikely to be detected except when the relative risk and case counts are high. The variable window width scan statistic is a useful tool for the surveillance of congenital anomalies. Numerous adaptations have improved the utility of the original methodology in the context of temporal cluster detection in congenital anomalies. [ABSTRACT FROM AUTHOR]

Published
2015
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177. Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers: A EUROmediCAT Study.

Author

Jonge, Linda, Garne, Ester, Gini, Rosa, Jordan, Susan, Klungsoyr, Kari, Loane, Maria, Neville, Amanda, Pierini, Anna, Puccini, Aurora, Thayer, Daniel, Tucker, David, Vinkel Hansen, Anne, Bakker, Marian, de Jonge, Linda, Jordan, Susan E, Neville, Amanda J, Thayer, Daniel S, and Bakker, Marian K

Subjects
DRUG use in pregnancy, CONGENITAL disorders, DRUG prescribing, MEDICAL databases, FIRST trimester of pregnancy, SEROTONIN uptake inhibitors, COMMUNICATION, HUMAN abnormalities, DATABASES, INFORMATION retrieval, ACQUISITION of data, PRENATAL exposure delayed effects, DIAGNOSIS
Abstract

Introduction: Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription databases. Linkage of prescription databases to the CA registries is a potentially effective method of obtaining accurate information on medicine use in pregnancies and the risk of congenital anomalies.Methods: We linked data from primary care and prescription databases to five European Surveillance of Congenital Anomalies (EUROCAT) CA registries. The linkage was evaluated by looking at linkage rate, characteristics of linked and non-linked cases, first trimester exposure rates for six groups of medicines according to the prescription data and information on medication use registered in the CA databases, and agreement of exposure.Results: Of the 52,619 cases registered in the CA databases, 26,552 could be linked. The linkage rate varied between registries over time and by type of birth. The first trimester exposure rates and the agreements between the databases varied for the different medicine groups. Information on anti-epileptic drugs and insulins and analogue medicine use recorded by CA registries was of good quality. For selective serotonin reuptake inhibitors, anti-asthmatics, antibacterials for systemic use, and gonadotropins and other ovulation stimulants, the recorded information was less complete.Conclusion: Linkage of primary care or prescription databases to CA registries improved the quality of information on maternal use of medicines in pregnancy, especially for medicine groups that are less fully registered in CA registries. [ABSTRACT FROM AUTHOR]

Published
2015
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178. Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010

Author

Murray, Christopher J L, primary, Vos, Theo, additional, Lozano, Rafael, additional, Naghavi, Mohsen, additional, Flaxman, Abraham D, additional, Michaud, Catherine, additional, Ezzati, Majid, additional, Shibuya, Kenji, additional, Salomon, Joshua A, additional, Abdalla, Safa, additional, Aboyans, Victor, additional, Abraham, Jerry, additional, Ackerman, Ilana, additional, Aggarwal, Rakesh, additional, Ahn, Stephanie Y, additional, Ali, Mohammed K, additional, AlMazroa, Mohammad A, additional, Alvarado, Miriam, additional, Anderson, H Ross, additional, Anderson, Laurie M, additional, Andrews, Kathryn G, additional, Atkinson, Charles, additional, Baddour, Larry M, additional, Bahalim, Adil N, additional, Barker-Collo, Suzanne, additional, Barrero, Lope H, additional, Bartels, David H, additional, Basáñez, Maria-Gloria, additional, Baxter, Amanda, additional, Bell, Michelle L, additional, Benjamin, Emelia J, additional, Bennett, Derrick, additional, Bernabé, Eduardo, additional, Bhalla, Kavi, additional, Bhandari, Bishal, additional, Bikbov, Boris, additional, Abdulhak, Aref Bin, additional, Birbeck, Gretchen, additional, Black, James A, additional, Blencowe, Hannah, additional, Blore, Jed D, additional, Blyth, Fiona, additional, Bolliger, Ian, additional, Bonaventure, Audrey, additional, Boufous, Soufiane, additional, Bourne, Rupert, additional, Boussinesq, Michel, additional, Braithwaite, Tasanee, additional, Brayne, Carol, additional, Bridgett, Lisa, additional, Brooker, Simon, additional, Brooks, Peter, additional, Brugha, Traolach S, additional, Bryan-Hancock, Claire, additional, Bucello, Chiara, additional, Buchbinder, Rachelle, additional, Buckle, Geoffrey, additional, Budke, Christine M, additional, Burch, Michael, additional, Burney, Peter, additional, Burstein, Roy, additional, Calabria, Bianca, additional, Campbell, Benjamin, additional, Canter, Charles E, additional, Carabin, Hélène, additional, Carapetis, Jonathan, additional, Carmona, Loreto, additional, Cella, Claudia, additional, Charlson, Fiona, additional, Chen, Honglei, additional, Cheng, Andrew Tai-Ann, additional, Chou, David, additional, Chugh, Sumeet S, additional, Coffeng, Luc E, additional, Colan, Steven D, additional, Colquhoun, Samantha, additional, Colson, K Ellicott, additional, Condon, John, additional, Connor, Myles D, additional, Cooper, Leslie T, additional, Corriere, Matthew, additional, Cortinovis, Monica, additional, de Vaccaro, Karen Courville, additional, Couser, William, additional, Cowie, Benjamin C, additional, Criqui, Michael H, additional, Cross, Marita, additional, Dabhadkar, Kaustubh C, additional, Dahiya, Manu, additional, Dahodwala, Nabila, additional, Damsere-Derry, James, additional, Danaei, Goodarz, additional, Davis, Adrian, additional, Leo, Diego De, additional, Degenhardt, Louisa, additional, Dellavalle, Robert, additional, Delossantos, Allyne, additional, Denenberg, Julie, additional, Derrett, Sarah, additional, Des Jarlais, Don C, additional, Dharmaratne, Samath D, additional, Dherani, Mukesh, additional, Diaz-Torne, Cesar, additional, Dolk, Helen, additional, Dorsey, E Ray, additional, Driscoll, Tim, additional, Duber, Herbert, additional, Ebel, Beth, additional, Edmond, Karen, additional, Elbaz, Alexis, additional, Ali, Suad Eltahir, additional, Erskine, Holly, additional, Erwin, Patricia J, additional, Espindola, Patricia, additional, Ewoigbokhan, Stalin E, additional, Farzadfar, Farshad, additional, Feigin, Valery, additional, Felson, David T, additional, Ferrari, Alize, additional, Ferri, Cleusa P, additional, Fèvre, Eric M, additional, Finucane, Mariel M, additional, Flaxman, Seth, additional, Flood, Louise, additional, Foreman, Kyle, additional, Forouzanfar, Mohammad H, additional, Fowkes, Francis Gerry R, additional, Fransen, Marlene, additional, Freeman, Michael K, additional, Gabbe, Belinda J, additional, Gabriel, Sherine E, additional, Gakidou, Emmanuela, additional, Ganatra, Hammad A, additional, Garcia, Bianca, additional, Gaspari, Flavio, additional, Gillum, Richard F, additional, Gmel, Gerhard, additional, Gonzalez-Medina, Diego, additional, Gosselin, Richard, additional, Grainger, Rebecca, additional, Grant, Bridget, additional, Groeger, Justina, additional, Guillemin, Francis, additional, Gunnell, David, additional, Gupta, Ramyani, additional, Haagsma, Juanita, additional, Hagan, Holly, additional, Halasa, Yara A, additional, Hall, Wayne, additional, Haring, Diana, additional, Haro, Josep Maria, additional, Harrison, James E, additional, Havmoeller, Rasmus, additional, Hay, Roderick J, additional, Higashi, Hideki, additional, Hill, Catherine, additional, Hoen, Bruno, additional, Hoffman, Howard, additional, Hotez, Peter J, additional, Hoy, Damian, additional, Huang, John J, additional, Ibeanusi, Sydney E, additional, Jacobsen, Kathryn H, additional, James, Spencer L, additional, Jarvis, Deborah, additional, Jasrasaria, Rashmi, additional, Jayaraman, Sudha, additional, Johns, Nicole, additional, Jonas, Jost B, additional, Karthikeyan, Ganesan, additional, Kassebaum, Nicholas, additional, Kawakami, Norito, additional, Keren, Andre, additional, Khoo, Jon-Paul, additional, King, Charles H, additional, Knowlton, Lisa Marie, additional, Kobusingye, Olive, additional, Koranteng, Adofo, additional, Krishnamurthi, Rita, additional, Laden, Francine, additional, Lalloo, Ratilal, additional, Laslett, Laura L, additional, Lathlean, Tim, additional, Leasher, Janet L, additional, Lee, Yong Yi, additional, Leigh, James, additional, Levinson, Daphna, additional, Lim, Stephen S, additional, Limb, Elizabeth, additional, Lin, John Kent, additional, Lipnick, Michael, additional, Lipshultz, Steven E, additional, Liu, Wei, additional, Loane, Maria, additional, Ohno, Summer Lockett, additional, Lyons, Ronan, additional, Mabweijano, Jacqueline, additional, MacIntyre, Michael F, additional, Malekzadeh, Reza, additional, Mallinger, Leslie, additional, Manivannan, Sivabalan, additional, Marcenes, Wagner, additional, March, Lyn, additional, Margolis, David J, additional, Marks, Guy B, additional, Marks, Robin, additional, Matsumori, Akira, additional, Matzopoulos, Richard, additional, Mayosi, Bongani M, additional, McAnulty, John H, additional, McDermott, Mary M, additional, McGill, Neil, additional, McGrath, John, additional, Medina-Mora, Maria Elena, additional, Meltzer, Michele, additional, Memish, Ziad A, additional, Mensah, George A, additional, Merriman, Tony R, additional, Meyer, Ana-Claire, additional, Miglioli, Valeria, additional, Miller, Matthew, additional, Miller, Ted R, additional, Mitchell, Philip B, additional, Mock, Charles, additional, Mocumbi, Ana Olga, additional, Moffitt, Terrie E, additional, Mokdad, Ali A, additional, Monasta, Lorenzo, additional, Montico, Marcella, additional, Moradi-Lakeh, Maziar, additional, Moran, Andrew, additional, Morawska, Lidia, additional, Mori, Rintaro, additional, Murdoch, Michele E, additional, Mwaniki, Michael K, additional, Naidoo, Kovin, additional, Nair, M Nathan, additional, Naldi, Luigi, additional, Narayan, K M Venkat, additional, Nelson, Paul K, additional, Nelson, Robert G, additional, Nevitt, Michael C, additional, Newton, Charles R, additional, Nolte, Sandra, additional, Norman, Paul, additional, Norman, Rosana, additional, O'Donnell, Martin, additional, O'Hanlon, Simon, additional, Olives, Casey, additional, Omer, Saad B, additional, Ortblad, Katrina, additional, Osborne, Richard, additional, Ozgediz, Doruk, additional, Page, Andrew, additional, Pahari, Bishnu, additional, Pandian, Jeyaraj Durai, additional, Rivero, Andrea Panozo, additional, Patten, Scott B, additional, Pearce, Neil, additional, Padilla, Rogelio Perez, additional, Perez-Ruiz, Fernando, additional, Perico, Norberto, additional, Pesudovs, Konrad, additional, Phillips, David, additional, Phillips, Michael R, additional, Pierce, Kelsey, additional, Pion, Sébastien, additional, Polanczyk, Guilherme V, additional, Polinder, Suzanne, additional, Pope, C Arden, additional, Popova, Svetlana, additional, Porrini, Esteban, additional, Pourmalek, Farshad, additional, Prince, Martin, additional, Pullan, Rachel L, additional, Ramaiah, Kapa D, additional, Ranganathan, Dharani, additional, Razavi, Homie, additional, Regan, Mathilda, additional, Rehm, Jürgen T, additional, Rein, David B, additional, Remuzzi, Guiseppe, additional, Richardson, Kathryn, additional, Rivara, Frederick P, additional, Roberts, Thomas, additional, Robinson, Carolyn, additional, De Leòn, Felipe Rodriguez, additional, Ronfani, Luca, additional, Room, Robin, additional, Rosenfeld, Lisa C, additional, Rushton, Lesley, additional, Sacco, Ralph L, additional, Saha, Sukanta, additional, Sampson, Uchechukwu, additional, Sanchez-Riera, Lidia, additional, Sanman, Ella, additional, Schwebel, David C, additional, Scott, James Graham, additional, Segui-Gomez, Maria, additional, Shahraz, Saeid, additional, Shepard, Donald S, additional, Shin, Hwashin, additional, Shivakoti, Rupak, additional, Silberberg, Donald, additional, Singh, David, additional, Singh, Gitanjali M, additional, Singh, Jasvinder A, additional, Singleton, Jessica, additional, Sleet, David A, additional, Sliwa, Karen, additional, Smith, Emma, additional, Smith, Jennifer L, additional, Stapelberg, Nicolas JC, additional, Steer, Andrew, additional, Steiner, Timothy, additional, Stolk, Wilma A, additional, Stovner, Lars Jacob, additional, Sudfeld, Christopher, additional, Syed, Sana, additional, Tamburlini, Giorgio, additional, Tavakkoli, Mohammad, additional, Taylor, Hugh R, additional, Taylor, Jennifer A, additional, Taylor, William J, additional, Thomas, Bernadette, additional, Thomson, W Murray, additional, Thurston, George D, additional, Tleyjeh, Imad M, additional, Tonelli, Marcello, additional, Towbin, Jeffrey A, additional, Truelsen, Thomas, additional, Tsilimbaris, Miltiadis K, additional, Ubeda, Clotilde, additional, Undurraga, Eduardo A, additional, van der Werf, Marieke J, additional, van Os, Jim, additional, Vavilala, Monica S, additional, Venketasubramanian, N, additional, Wang, Mengru, additional, Wang, Wenzhi, additional, Watt, Kerrianne, additional, Weatherall, David J, additional, Weinstock, Martin A, additional, Weintraub, Robert, additional, Weisskopf, Marc G, additional, Weissman, Myrna M, additional, White, Richard A, additional, Whiteford, Harvey, additional, Wiebe, Natasha, additional, Wiersma, Steven T, additional, Wilkinson, James D, additional, Williams, Hywel C, additional, Williams, Sean RM, additional, Witt, Emma, additional, Wolfe, Frederick, additional, Woolf, Anthony D, additional, Wulf, Sarah, additional, Yeh, Pon-Hsiu, additional, Zaidi, Anita KM, additional, Zheng, Zhi-Jie, additional, Zonies, David, additional, and Lopez, Alan D, additional

Published
2012
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179. Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010

Author

Vos, Theo, primary, Flaxman, Abraham D, additional, Naghavi, Mohsen, additional, Lozano, Rafael, additional, Michaud, Catherine, additional, Ezzati, Majid, additional, Shibuya, Kenji, additional, Salomon, Joshua A, additional, Abdalla, Safa, additional, Aboyans, Victor, additional, Abraham, Jerry, additional, Ackerman, Ilana, additional, Aggarwal, Rakesh, additional, Ahn, Stephanie Y, additional, Ali, Mohammed K, additional, AlMazroa, Mohammad A, additional, Alvarado, Miriam, additional, Anderson, H Ross, additional, Anderson, Laurie M, additional, Andrews, Kathryn G, additional, Atkinson, Charles, additional, Baddour, Larry M, additional, Bahalim, Adil N, additional, Barker-Collo, Suzanne, additional, Barrero, Lope H, additional, Bartels, David H, additional, Basáñez, Maria-Gloria, additional, Baxter, Amanda, additional, Bell, Michelle L, additional, Benjamin, Emelia J, additional, Bennett, Derrick, additional, Bernabé, Eduardo, additional, Bhalla, Kavi, additional, Bhandari, Bishal, additional, Bikbov, Boris, additional, Abdulhak, Aref Bin, additional, Birbeck, Gretchen, additional, Black, James A, additional, Blencowe, Hannah, additional, Blore, Jed D, additional, Blyth, Fiona, additional, Bolliger, Ian, additional, Bonaventure, Audrey, additional, Boufous, Soufiane, additional, Bourne, Rupert, additional, Boussinesq, Michel, additional, Braithwaite, Tasanee, additional, Brayne, Carol, additional, Bridgett, Lisa, additional, Brooker, Simon, additional, Brooks, Peter, additional, Brugha, Traolach S, additional, Bryan-Hancock, Claire, additional, Bucello, Chiara, additional, Buchbinder, Rachelle, additional, Buckle, Geoffrey, additional, Budke, Christine M, additional, Burch, Michael, additional, Burney, Peter, additional, Burstein, Roy, additional, Calabria, Bianca, additional, Campbell, Benjamin, additional, Canter, Charles E, additional, Carabin, Hélène, additional, Carapetis, Jonathan, additional, Carmona, Loreto, additional, Cella, Claudia, additional, Charlson, Fiona, additional, Chen, Honglei, additional, Cheng, Andrew Tai-Ann, additional, Chou, David, additional, Chugh, Sumeet S, additional, Coffeng, Luc E, additional, Colan, Steven D, additional, Colquhoun, Samantha, additional, Colson, K Ellicott, additional, Condon, John, additional, Connor, Myles D, additional, Cooper, Leslie T, additional, Corriere, Matthew, additional, Cortinovis, Monica, additional, de Vaccaro, Karen Courville, additional, Couser, William, additional, Cowie, Benjamin C, additional, Criqui, Michael H, additional, Cross, Marita, additional, Dabhadkar, Kaustubh C, additional, Dahiya, Manu, additional, Dahodwala, Nabila, additional, Damsere-Derry, James, additional, Danaei, Goodarz, additional, Davis, Adrian, additional, De Leo, Diego, additional, Degenhardt, Louisa, additional, Dellavalle, Robert, additional, Delossantos, Allyne, additional, Denenberg, Julie, additional, Derrett, Sarah, additional, Des Jarlais, Don C, additional, Dharmaratne, Samath D, additional, Dherani, Mukesh, additional, Diaz-Torne, Cesar, additional, Dolk, Helen, additional, Dorsey, E Ray, additional, Driscoll, Tim, additional, Duber, Herbert, additional, Ebel, Beth, additional, Edmond, Karen, additional, Elbaz, Alexis, additional, Ali, Suad Eltahir, additional, Erskine, Holly, additional, Erwin, Patricia J, additional, Espindola, Patricia, additional, Ewoigbokhan, Stalin E, additional, Farzadfar, Farshad, additional, Feigin, Valery, additional, Felson, David T, additional, Ferrari, Alize, additional, Ferri, Cleusa P, additional, Fèvre, Eric M, additional, Finucane, Mariel M, additional, Flaxman, Seth, additional, Flood, Louise, additional, Foreman, Kyle, additional, Forouzanfar, Mohammad H, additional, Fowkes, Francis Gerry R, additional, Franklin, Richard, additional, Fransen, Marlene, additional, Freeman, Michael K, additional, Gabbe, Belinda J, additional, Gabriel, Sherine E, additional, Gakidou, Emmanuela, additional, Ganatra, Hammad A, additional, Garcia, Bianca, additional, Gaspari, Flavio, additional, Gillum, Richard F, additional, Gmel, Gerhard, additional, Gosselin, Richard, additional, Grainger, Rebecca, additional, Groeger, Justina, additional, Guillemin, Francis, additional, Gunnell, David, additional, Gupta, Ramyani, additional, Haagsma, Juanita, additional, Hagan, Holly, additional, Halasa, Yara A, additional, Hall, Wayne, additional, Haring, Diana, additional, Haro, Josep Maria, additional, Harrison, James E, additional, Havmoeller, Rasmus, additional, Hay, Roderick J, additional, Higashi, Hideki, additional, Hill, Catherine, additional, Hoen, Bruno, additional, Hoffman, Howard, additional, Hotez, Peter J, additional, Hoy, Damian, additional, Huang, John J, additional, Ibeanusi, Sydney E, additional, Jacobsen, Kathryn H, additional, James, Spencer L, additional, Jarvis, Deborah, additional, Jasrasaria, Rashmi, additional, Jayaraman, Sudha, additional, Johns, Nicole, additional, Jonas, Jost B, additional, Karthikeyan, Ganesan, additional, Kassebaum, Nicholas, additional, Kawakami, Norito, additional, Keren, Andre, additional, Khoo, Jon-Paul, additional, King, Charles H, additional, Knowlton, Lisa Marie, additional, Kobusingye, Olive, additional, Koranteng, Adofo, additional, Krishnamurthi, Rita, additional, Lalloo, Ratilal, additional, Laslett, Laura L, additional, Lathlean, Tim, additional, Leasher, Janet L, additional, Lee, Yong Yi, additional, Leigh, James, additional, Lim, Stephen S, additional, Limb, Elizabeth, additional, Lin, John Kent, additional, Lipnick, Michael, additional, Lipshultz, Steven E, additional, Liu, Wei, additional, Loane, Maria, additional, Ohno, Summer Lockett, additional, Lyons, Ronan, additional, Ma, Jixiang, additional, Mabweijano, Jacqueline, additional, MacIntyre, Michael F, additional, Malekzadeh, Reza, additional, Mallinger, Leslie, additional, Manivannan, Sivabalan, additional, Marcenes, Wagner, additional, March, Lyn, additional, Margolis, David J, additional, Marks, Guy B, additional, Marks, Robin, additional, Matsumori, Akira, additional, Matzopoulos, Richard, additional, Mayosi, Bongani M, additional, McAnulty, John H, additional, McDermott, Mary M, additional, McGill, Neil, additional, McGrath, John, additional, Medina-Mora, Maria Elena, additional, Meltzer, Michele, additional, Memish, Ziad A, additional, Mensah, George A, additional, Merriman, Tony R, additional, Meyer, Ana-Claire, additional, Miglioli, Valeria, additional, Miller, Matthew, additional, Miller, Ted R, additional, Mitchell, Philip B, additional, Mocumbi, Ana Olga, additional, Moffitt, Terrie E, additional, Mokdad, Ali A, additional, Monasta, Lorenzo, additional, Montico, Marcella, additional, Moradi-Lakeh, Maziar, additional, Moran, Andrew, additional, Morawska, Lidia, additional, Mori, Rintaro, additional, Murdoch, Michele E, additional, Mwaniki, Michael K, additional, Naidoo, Kovin, additional, Nair, M Nathan, additional, Naldi, Luigi, additional, Narayan, KM Venkat, additional, Nelson, Paul K, additional, Nelson, Robert G, additional, Nevitt, Michael C, additional, Newton, Charles R, additional, Nolte, Sandra, additional, Norman, Paul, additional, Norman, Rosana, additional, O'Donnell, Martin, additional, O'Hanlon, Simon, additional, Olives, Casey, additional, Omer, Saad B, additional, Ortblad, Katrina, additional, Osborne, Richard, additional, Ozgediz, Doruk, additional, Page, Andrew, additional, Pahari, Bishnu, additional, Pandian, Jeyaraj Durai, additional, Rivero, Andrea Panozo, additional, Patten, Scott B, additional, Pearce, Neil, additional, Padilla, Rogelio Perez, additional, Perez-Ruiz, Fernando, additional, Perico, Norberto, additional, Pesudovs, Konrad, additional, Phillips, David, additional, Phillips, Michael R, additional, Pierce, Kelsey, additional, Pion, Sébastien, additional, Polanczyk, Guilherme V, additional, Polinder, Suzanne, additional, Pope, C Arden, additional, Popova, Svetlana, additional, Porrini, Esteban, additional, Pourmalek, Farshad, additional, Prince, Martin, additional, Pullan, Rachel L, additional, Ramaiah, Kapa D, additional, Ranganathan, Dharani, additional, Razavi, Homie, additional, Regan, Mathilda, additional, Rehm, Jürgen T, additional, Rein, David B, additional, Remuzzi, Guiseppe, additional, Richardson, Kathryn, additional, Rivara, Frederick P, additional, Roberts, Thomas, additional, Robinson, Carolyn, additional, De Leòn, Felipe Rodriguez, additional, Ronfani, Luca, additional, Room, Robin, additional, Rosenfeld, Lisa C, additional, Rushton, Lesley, additional, Sacco, Ralph L, additional, Saha, Sukanta, additional, Sampson, Uchechukwu, additional, Sanchez-Riera, Lidia, additional, Sanman, Ella, additional, Schwebel, David C, additional, Scott, James Graham, additional, Segui-Gomez, Maria, additional, Shahraz, Saeid, additional, Shepard, Donald S, additional, Shin, Hwashin, additional, Shivakoti, Rupak, additional, Silberberg, Donald, additional, Singh, David, additional, Singh, Gitanjali M, additional, Singh, Jasvinder A, additional, Singleton, Jessica, additional, Sleet, David A, additional, Sliwa, Karen, additional, Smith, Emma, additional, Smith, Jennifer L, additional, Stapelberg, Nicolas JC, additional, Steer, Andrew, additional, Steiner, Timothy, additional, Stolk, Wilma A, additional, Stovner, Lars Jacob, additional, Sudfeld, Christopher, additional, Syed, Sana, additional, Tamburlini, Giorgio, additional, Tavakkoli, Mohammad, additional, Taylor, Hugh R, additional, Taylor, Jennifer A, additional, Taylor, William J, additional, Thomas, Bernadette, additional, Thomson, W Murray, additional, Thurston, George D, additional, Tleyjeh, Imad M, additional, Tonelli, Marcello, additional, Towbin, Jeffrey A, additional, Truelsen, Thomas, additional, Tsilimbaris, Miltiadis K, additional, Ubeda, Clotilde, additional, Undurraga, Eduardo A, additional, van der Werf, Marieke J, additional, van Os, Jim, additional, Vavilala, Monica S, additional, Venketasubramanian, N, additional, Wang, Mengru, additional, Wang, Wenzhi, additional, Watt, Kerrianne, additional, Weatherall, David J, additional, Weinstock, Martin A, additional, Weintraub, Robert, additional, Weisskopf, Marc G, additional, Weissman, Myrna M, additional, White, Richard A, additional, Whiteford, Harvey, additional, Wiersma, Steven T, additional, Wilkinson, James D, additional, Williams, Hywel C, additional, Williams, Sean RM, additional, Witt, Emma, additional, Wolfe, Frederick, additional, Woolf, Anthony D, additional, Wulf, Sarah, additional, Yeh, Pon-Hsiu, additional, Zaidi, Anita KM, additional, Zheng, Zhi-Jie, additional, Zonies, David, additional, Lopez, Alan D, additional, and Murray, Christopher JL, additional

Published
2012
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181. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

Author

Loane, Maria, primary, Morris, Joan K, additional, Addor, Marie-Claude, additional, Arriola, Larraitz, additional, Budd, Judith, additional, Doray, Berenice, additional, Garne, Ester, additional, Gatt, Miriam, additional, Haeusler, Martin, additional, Khoshnood, Babak, additional, Klungsøyr Melve, Kari, additional, Latos-Bielenska, Anna, additional, McDonnell, Bob, additional, Mullaney, Carmel, additional, O'Mahony, Mary, additional, Queißer-Wahrendorf, Annette, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Rounding, Catherine, additional, Salvador, Joaquin, additional, Tucker, David, additional, Wellesley, Diana, additional, Yevtushok, Lyubov, additional, and Dolk, Helen, additional

Published
2012
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182. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

Author

Garne, Ester, primary, Loane, Maria, additional, Dolk, Helen, additional, Barisic, Ingeborg, additional, Addor, Marie‐Claude, additional, Arriola, Larraitz, additional, Bakker, Marian, additional, Calzolari, Elisa, additional, Matias Dias, Carlos, additional, Doray, Berenice, additional, Gatt, Miriam, additional, Melve, Kari Klyungsoyr, additional, Nelen, Vera, additional, O'Mahony, Mary, additional, Pierini, Anna, additional, Randrianaivo‐Ranjatoelina, Hanitra, additional, Rankin, Judith, additional, Rissmann, Anke, additional, Tucker, David, additional, Verellun‐Dumoulin, Christine, additional, and Wiesel, Awi, additional

Published
2012
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190. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Author

Barisic, Ingeborg, Boban, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Bergman, Jorieke EH, Braz, Paula, Draper, Elizabeth S, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, and Verellen-Dumoulin, Christine

Subjects
MECKEL diverticulum, GASTROINTESTINAL system abnormalities, AUTOSOMAL recessive polycystic kidney, HUMAN abnormalities, CENTRAL nervous system abnormalities
Abstract

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. [ABSTRACT FROM AUTHOR]

Published
2015
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191. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

Author

Garne, Ester, primary, Loane, Maria, additional, de Vigan, Catherine, additional, Scarano, Gioacchino, additional, de Walle, Hermien, additional, Gillerot, Yves, additional, Stoll, Claude, additional, Addor, Marie‐Claude, additional, Stone, David, additional, Gener, Blanca, additional, Feijoo, Maria, additional, Mosquera‐Tenreiro, Carmen, additional, Gatt, Miriam, additional, Queisser‐Luft, Annette, additional, Baena, Neus, additional, and Dolk, Helen, additional

Published
2004
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192. Toward the effective surveillance of hypospadias.

Author

Dolk, Helen, primary, Vrijheid, Martine, additional, Scott, John E S, additional, Addor, Marie-Claude, additional, Botting, Bev, additional, de Vigan, Catherine, additional, de Walle, Hermien, additional, Garne, Ester, additional, Loane, Maria, additional, Pierini, Anna, additional, Garcia-Minaur, Sixto, additional, Physick, Nigel, additional, Tenconi, Romano, additional, Wiesel, Awi, additional, Calzolari, Elisa, additional, and Stone, David, additional

Published
2004
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195. Epidemiology of pre-existing multimorbidity in pregnant women in the UK in 2018: a population-based cross-sectional study.

Author

Lee, Siang Ing, Azcoaga-Lorenzo, Amaya, Agrawal, Utkarsh, Kennedy, Jonathan I, Fagbamigbe, Adeniyi Francis, Hope, Holly, Subramanian, Anuradhaa, Anand, Astha, Taylor, Beck, Nelson-Piercy, Catherine, Damase-Michel, Christine, Yau, Christopher, Crowe, Francesca, Santorelli, Gillian, Eastwood, Kelly-Ann, Vowles, Zoe, Loane, Maria, Moss, Ngawai, Brocklehurst, Peter, and Plachcinski, Rachel

Subjects
COMORBIDITY, PREGNANT women, MATERNAL health, MENTAL health, PRIMARY care
Abstract

Background: Although maternal death is rare in the United Kingdom, 90% of these women had multiple health/social problems. This study aims to estimate the prevalence of pre-existing multimorbidity (two or more long-term physical or mental health conditions) in pregnant women in the United Kingdom (England, Northern Ireland, Wales and Scotland).Study Design: Pregnant women aged 15-49 years with a conception date 1/1/2018 to 31/12/2018 were included in this population-based cross-sectional study, using routine healthcare datasets from primary care: Clinical Practice Research Datalink (CPRD, United Kingdom, n = 37,641) and Secure Anonymized Information Linkage databank (SAIL, Wales, n = 27,782), and secondary care: Scottish Morbidity Records with linked community prescribing data (SMR, Tayside and Fife, n = 6099). Pre-existing multimorbidity preconception was defined from 79 long-term health conditions prioritised through a workshop with patient representatives and clinicians.Results: The prevalence of multimorbidity was 44.2% (95% CI 43.7-44.7%), 46.2% (45.6-46.8%) and 19.8% (18.8-20.8%) in CPRD, SAIL and SMR respectively. When limited to health conditions that were active in the year before pregnancy, the prevalence of multimorbidity was still high (24.2% [23.8-24.6%], 23.5% [23.0-24.0%] and 17.0% [16.0 to 17.9%] in the respective datasets). Mental health conditions were highly prevalent and involved 70% of multimorbidity CPRD: multimorbidity with ≥one mental health condition/s 31.3% [30.8-31.8%]). After adjusting for age, ethnicity, gravidity, index of multiple deprivation, body mass index and smoking, logistic regression showed that pregnant women with multimorbidity were more likely to be older (CPRD England, adjusted OR 1.81 [95% CI 1.04-3.17] 45-49 years vs 15-19 years), multigravid (1.68 [1.50-1.89] gravidity ≥ five vs one), have raised body mass index (1.59 [1.44-1.76], body mass index 30+ vs body mass index 18.5-24.9) and smoked preconception (1.61 [1.46-1.77) vs non-smoker).Conclusion: Multimorbidity is prevalent in pregnant women in the United Kingdom, they are more likely to be older, multigravid, have raised body mass index and smoked preconception. Secondary care and community prescribing dataset may only capture the severe spectrum of health conditions. Research is needed urgently to quantify the consequences of maternal multimorbidity for both mothers and children. [ABSTRACT FROM AUTHOR]

Published
2022
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196. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening.

Author

Loane, Maria, Morris, Joan K, Addor, Marie-Claude, Arriola, Larraitz, Budd, Judith, Doray, Berenice, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsøyr Melve, Kari, Latos-Bielenska, Anna, McDonnell, Bob, Mullaney, Carmel, O'Mahony, Mary, Queißer-Wahrendorf, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, and Salvador, Joaquin

Subjects
*DOWN syndrome, *TRISOMY, *MATERNAL age, *PRENATAL diagnosis
Abstract

This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1 million births between 1990 and 2009 participated. Trisomy cases included live births, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly. We present correction to 20 weeks gestational age (ie, correcting early terminations for the probability of fetal survival to 20 weeks) to allow for artefactual screening-related differences in total prevalence. Poisson regression was used. The proportion of births in the population to mothers aged 35+ years in the participating registries increased from 13% in 1990 to 19% in 2009. Total prevalence per 10 000 births was 22.0 (95% CI 21.7-22.4) for trisomy 21, 5.0 (95% CI 4.8-5.1) for trisomy 18 and 2.0 (95% CI 1.9-2.2) for trisomy 13; live birth prevalence was 11.2 (95% CI 10.9-11.5) for trisomy 21, 1.04 (95% CI 0.96-1.12) for trisomy 18 and 0.48 (95% CI 0.43-0.54) for trisomy 13. There was an increase in total and total corrected prevalence of all three trisomies over time, mainly explained by increasing maternal age. Live birth prevalence remained stable over time. For trisomy 21, there was a three-fold variation in live birth prevalence between countries. The rise in maternal age has led to an increase in the number of trisomy-affected pregnancies in Europe. Live birth prevalence has remained stable overall. Differences in prenatal screening and termination between countries lead to wide variation in live birth prevalence. [ABSTRACT FROM AUTHOR]

Published
2013
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197. Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies.

Author

Loane, Maria, Dolk, Helen, Garne, Ester, and Greenlees, Ruth

Abstract

The European Surveillance of Congenital Anomalies (EUROCAT) network of population-based congenital anomaly registries is an important source of epidemiologic information on congenital anomalies in Europe covering live births, fetal deaths from 20 weeks gestation, and terminations of pregnancy for fetal anomaly. EUROCAT's policy is to strive for high-quality data, while ensuring consistency and transparency across all member registries. A set of 30 data quality indicators (DQIs) was developed to assess five key elements of data quality: completeness of case ascertainment, accuracy of diagnosis, completeness of information on EUROCAT variables, timeliness of data transmission, and availability of population denominator information. This article describes each of the individual DQIs and presents the output for each registry as well as the EUROCAT (unweighted) average, for 29 full member registries for 2004-2008. This information is also available on the EUROCAT website for previous years. The EUROCAT DQIs allow registries to evaluate their performance in relation to other registries and allows appropriate interpretations to be made of the data collected. The DQIs provide direction for improving data collection and ascertainment, and they allow annual assessment for monitoring continuous improvement. The DQI are constantly reviewed and refined to best document registry procedures and processes regarding data collection, to ensure appropriateness of DQI, and to ensure transparency so that the data collected can make a substantial and useful contribution to epidemiologic research on congenital anomalies. Birth Defects Research (Part A), 2011. © 2011 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2011
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198. Paper 2: EUROCAT public health indicators for congenital anomalies in Europe.

Author

Khoshnood, Babak, Greenlees, Ruth, Loane, Maria, and Dolk, Helen

Abstract

OBJECTIVE The purpose of this article is to present the specific public health indicators recently developed by EUROCAT that aim to summarize important aspects of the public health impact of congenital anomalies in a few quantitative measures. METHODS The six indicators are: (1) congenital anomaly perinatal mortality, (2) congenital anomaly prenatal diagnosis prevalence, (3) congenital anomaly termination of pregnancy, (4) Down syndrome livebirth prevalence, (5) congenital anomaly pediatric surgery, and (6) neural tube defects (NTD) total prevalence. Data presented for this report pertained to all cases (livebirths, fetal deaths, or stillbirths after 20 weeks of gestation and terminations of pregnancy for fetal anomaly [TOPFA]) of congenital anomaly from 27 full member registries of EUROCAT that could provide data for at least 3 years during the period 2004 to 2008. Prevalence of anomalies, prenatal diagnosis, TOPFA, pediatric surgery, and perinatal mortality were calculated per 1000 births. RESULTS The overall perinatal mortality was approximately 1.0 per 1000 births for EUROCAT registries with almost half due to fetal and the other half due to first week deaths. There were wide variations in perinatal mortality across the registries with the highest rates observed in Dublin and Malta, registries in countries where TOPFA are illegal, and in Ukraine. The overall perinatal mortality across EUROCAT registries slightly decreased between 2004 and 2008 due to a decrease in first week deaths. The prevalence of TOPFA was fairly stable at about 4 per 1000 births. There were variations in livebirth prevalence of cases typically requiring surgery across the registries; however, for most registries this prevalence was between 3 and 5 per 1000 births. Prevalence of NTD decreased by about 10% from 1.05 in 2004 to 0.94 per 1000 in 2008. CONCLUSION It is hoped that by publishing the data on EUROCAT indicators, the public health importance of congenital anomalies can be clearly summarized to policy makers, the need for accurate data from registries emphasized, the need for primary prevention and treatment services highlighted, and the impact of current services measured. Birth Defects Research (Part A), 2011.© 2011 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2011
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199. Paper 4: EUROCAT statistical monitoring: Identification and investigation of ten year trends of congenital anomalies in Europe.

Author

Loane, Maria, Dolk, Helen, Kelly, Alan, Teljeur, Conor, Greenlees, Ruth, and Densem, James

Abstract

BACKGROUND As part of EUROCAT's surveillance of congenital anomalies in Europe, a statistical monitoring system has been developed to detect recent clusters or long-term (10 year) time trends. The purpose of this article is to describe the system for the identification and investigation of 10-year time trends, conceived as a 'screening' tool ultimately leading to the identification of trends which may be due to changing teratogenic factors. METHODS The EUROCAT database consists of all cases of congenital anomalies including livebirths, fetal deaths from 20 weeks gestational age, and terminations of pregnancy for fetal anomaly. Monitoring of 10-year trends is performed for each registry for each of 96 non-independent EUROCAT congenital anomaly subgroups, while Pan-Europe analysis combines data from all registries. The monitoring results are reviewed, prioritized according to a prioritization strategy, and communicated to registries for investigation. Twenty-one registries covering over 4 million births, from 1999 to 2008, were included in monitoring in 2010. CONCLUSIONS Significant increasing trends were detected for abdominal wall anomalies, gastroschisis, hypospadias, Trisomy 18 and renal dysplasia in the Pan-Europe analysis while 68 increasing trends were identified in individual registries. A decreasing trend was detected in over one-third of anomaly subgroups in the Pan-Europe analysis, and 16.9% of individual registry tests. Registry preliminary investigations indicated that many trends are due to changes in data quality, ascertainment, screening, or diagnostic methods. Some trends are inevitably chance phenomena related to multiple testing, while others seem to represent real and continuing change needing further investigation and response by regional/national public health authorities. Birth Defects Research (Part A), 2011.© 2011 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2011
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200. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy.

Author

Boyd, Patricia Anne, Loane, Maria, Garne, Ester, Khoshnood, Babak, and Dolk, Helen

Subjects
*SEX chromosome abnormalities, *TRISOMY, *FETAL death, *PRENATAL diagnosis, *DOWN syndrome
Abstract

This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71-2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46-0.64), 1.04 (95% CI 0.92-1.17) and 0.30 (95% CI 0.24-0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19-5.36 per 1000), proportion prenatally diagnosed (50-100%) and proportion of prenatally diagnosed resulting in TOPFA (13-67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors. [ABSTRACT FROM AUTHOR]

Published
2011
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