Boletín del ECEMC: Revista de Dismorfología y Epidemiología
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Boletín del ECEMC: Revista de Dismorfología y Epidemiología:
Es una revista científica anual, en la que se recogen los principales resultados de la investigación que en el CIAC (Centro de Investigación sobre Anomalías Congénitas) desarrolla el grupo del ECEMC (Estudio Colaborativo Español de Malformaciones Congénitas), así como artículos redactados por destacados especialistas a instancias del Consejo Editorial, en relación con los defectos congénitos y los avances en esta área de investigación.
Incluye información elaborada por uno de los grupos de investigación (el ECEMC) que acoge el ISCIII en su campus de Chamartín, que no puede ser aportada por ningún otro grupo de investigación español, puesto que recoge datos de toda España, obtenidos con una metodología común, de modo que los datos de las distintas áreas geográficas son perfectamente comparables entre sí, y son comparables también con los obtenidos desde 1976, momento en que se creó el ECEMC.
El “Boletín del ECEMC: Revista de Dismorfología y Epidemiología” cubre así un área del conocimiento muy específica, que no está cubierta por ninguna otra publicación periódica en España. Constituye un vehículo de información actualizada, especialmente útil para la traslación del conocimiento para su aplicación en la prevención de patologías como los defectos congénitos.
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Publication Actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2007. y análisis de los datos sobre técnicas de reproducción asistida(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Rodríguez-Pinilla, Elvira; Mejías-Pavón, C; Fernández-Martín, P; García Benítez, MR; Real Ferrero, MM; Martínez-Frías, María LuisaWe present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2007. The total number of calls received in both services was 4,665 (834 from SITTE and 3,831 from SITE). We also analyze some aspects of assisted reproductive techniques (ART) in the data of pregnant women who contacted the service (SITE) from April 2006 until December 2007. The result showed that 6% of the pregnant women who called conceive by any type of ART.Publication Actividad de los servicios de información sobre teratógenos (SITTE y SITE) durante el año 2008.(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2009-10) Fernández-Martín, P; Rodríguez-Pinilla, Elvira; Mejías-Pavón, C; García-Benítez, M Regla; Real-Ferrero, M Monserrat; Ortega Mateo, A; Martínez-Frías, María LuisaWe summarize the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population), during 2008. The total number of calls received in both services was 4,910 (943 from SITTE and 3,967 from SITE). This number has increased compared to previous year. The main users of the SITTE (gynecologists 54.96%) and the SITE (pregnant women 79.89%), have asked preponderantly about the use of drugs (70.22% of the SITTE and 37.49% of the SITE phone calls), during ongoing pregnancies at the moment they were calling (82.82% in the SITTE and 85.18% in the SITE). Additionally, we analyze the type of consulted factors and some characteristics of the users to orientate our work more effectively to the actual demand.Publication Actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2009. Análisis de la utilización del SITTE por los distintos especialistas médicos(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2010-12) Mejías-Pavón, C; Rodríguez-Pinilla, Elvira; Fernández-Martín, P; Real-Ferrero, MM; García-Benítez, MR; Martínez-Frías, María LuisaDuring 2009, SITTE (aimed at the health professionals) received 889 calls and SITE (intended for the general population) received 4,008. Inquires about medication are the most frequent reasons for consulting both these services. What stands out is the high number of inquiries for psychoanaleptic and psycholeptic drugs, which constitute 25% of all medication queries in SITTE and 22% in SITE. Here we present the yearly trends for the calls made by different medical specialists. Gynecologists are the specialists that have the most contact with SITTE, but calls from primary care physicians and psychiatrists are gradually increasing.Publication Actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2010(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2011-12) Fernández-Martín, P; García-Benítez, Mª Regla; Real-Ferrero, M Monserrat; Bermejo-Sanchez, Eva; Martínez-Frías, María LuisaWe present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during the year 2010. The total number of calls received in both services was 5,087 (814 received by SITTE and 4,273 by SITE). We present the distribution of calls along the years, as well as by the types of health professionals who performed the calls and the types of questions. Also, we show the distribution by different groups of exposures, including maternal diseases and their treatments, professional exposures, life styles, and others. Quantitatively, drug use has been the main reason for these queries. In addition, we have analyzed for the first time, the question regarding paternal diseases, treatments and professional exposures.Publication Actividad de los Servicios de Información Telefónica sobre Teratógenos (SITTE y SITE) durante el año 2011(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Fernández-Martín, P; García-Benítez, Mª Regla; Real-Ferrero, M Monserrat; Martínez-Frías, María LuisaWe present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during year 2011. The total number of calls received in both services was 5,340 (829 from SITTE and 4,511 from SITE). We also analyzed calls asking for maternal diseases because some of them, like diabetes and hypertension, can be of risk for the correct prenatal development, either by themselves or by the treatment. Like all these previous years, drugs have been the main issue of concern in consulting (68.67% SITTE; 40.84% SITE), particulary about psychoanaleptics (12.71% SITTE; 12.55% SITE) and psycholeptics (12.37% SITTE; 12.90% SITE). Sometimes this concern is the reason for many chronic treatments to be withdrawn when knowing about the pregnancy, without taking into account the risk this may bring to the mother´s illness.Publication El análisis cienciométrico de las publicaciones biomédicas sobre genética y dismorfología clínica(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2009-10) González de Dios, j; Aleixandre-Benavent, RafaelGenetic and dysmorphology sciences form a multidisciplinary field that produces a wide range of scientific journals. The aim of this study was to perform a scientometric analysis of genetic science journals in Journal Citation Reports-Science Citation Index. Methodology: we study the three areas dedicated to genetic sciences (Genetics & Heredity, Develpmental Biology and Toxicology) in the 2007 JCR-SCI edition. Bibliometric indicators used are: journals, articles, citations, impact factor (IF), immediacy index, half life and journals with the greatest IF in each speciality. We also perform a special analysis about publications of ECEMC working group in JCR-SCI. Results: in the area of Genetics & Heredity we found a total of 132 journals, 16,059 articles, 675,463 citations and an average IF of 2,595, the greatest IF belonging to Nat Genet (25,556) and Nat Rev Genet (22,399). The area of Develpmental Biology contains 37 journals, 3,749 articles, 199.213 citations and an average IF of 2,688, the greatest IF belonging to Annu Rev Cell Dev Bio (23,545) and Gene Dev (114,795). The area of Toxicology contains 73 journals, 7,874 articles, 193,395 citations and an average IF of 1,942, the greatest IF belonging to Annu Rev Pharmacol (21,696) and Crit Rev Toxicol (5,145). ECEMC working group has 111 articles in JCR published in the last 10 years, mainly in the area of Genetics & Heredity and in journals with IF 2 . Conclusions: we found out a broad representation of journals in the field of genetic and dysmorphology from the 6,426 journals included in the 2007 JCR-SCI edition. Bibliometric characteristics differ in accordance to nature of the three areas. The contribution of ECEMC working group is important in number and quality of publications in this database. Due to significant limitations observed in the IF, we suggest conducting its analysis from a multidimensional bibliometric perspective, and always within its contextual research area.Publication Análisis clínico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2009-10) Martínez-Frías, María Luisa; Bermejo-Sanchez, EvaIn this chapter, the information gathered by ECEMC between January 1980 and December 2008 has been analysed. It corresponds to 2,463,134 consecutive newborn infants surveyed, among which 37,545 (1.52%) presented congenital defects detected during the first 3 days of life. When these were distributed by clinical presentation, all the groups showed a statistically significant diminishing trend since the base period, mainly attributable to the impact of termination of pregnancy after the diagnosis of foetal alterations. The distribution by clinical presentation was specifically analysed for 17 congenital defects which are usually monitored, this information being useful in the field of prenatal diagnosis. Blastogenic defects showed a statistically significant decrease in the study period, except in the last 6 years, which could be due to the influence of the immigrant population. All the infants registered were distributed by the causes of the defects, and those with syndromes were also distributed by etiology and frequency in the ECEMC data. Moreover, all infants with congenital defects were distributed by the organic system or area affected, and presented in 3 periods of time. Given the increase in the immigrant population in our country, the distribution of all infants with congenital defects by ethnic group is shown, with whites being distinguished as native or foreigner. This distribution by ethnic group is important for designing specific campaigns for prevention, education and information, according to their real needs. When analysing some selected defects in those groups, with respect to the group of native whites, a lower percentage of cases with neural tube defects was found among blacks; a higher percentage of cases with cardiovascular defects was registered among blacks, gipsies and arabs; a lower percentage of cases with hypospadias was observed among blacks and indoamericans, and a higher percentage of cases with postaxial polydactyly was found among blacks. This data provides useful information for identifying defects for which the gene frequencies of the native population could be modified by immigration, as well as to define specific needs of the different ethnic groups in Spain.Publication Análisis clínico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Martínez-Frías, María Luisa; Bermejo-Sanchez, Eva; Mendioroz, J; Cuevas Catalina, María LourdesThe clinical analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2007, has been performed. Among a total of 2,254,439 newborns surveyed, 35,246 (1.56%), had congenital defects detected during the first 3 days of life. This group of malformed infants was distributed according to their clinical presentation as isolated (74.01%), multiply malformed (13.43%), and syndromes (12.56%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.42% of genetic cause, 21.03% multifactorial, 1.22% produced by environmental causes, and in the remaining 57.33% the etiology of the defects was unknown. The secular distribution of the 3 main groups of clinical presentation (isolated, multiply malformed and syndromes) was studied and all of them showed a decreasing trend along the years, probably as a consequence of the impact of the interruption of pregnancy of some affected fetuses. The different types of syndromes and their minimal frequency values, were also presented separated by type of cause.Publication Análisis clínico-epidemiológico de las niñas recién nacidas con síndrome de Turner y de aquellas con tres cromosomas X(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2010-12) Aceña, Mª Isabel; MacDonald, Alexandra; Martinez-Fernandez, Maria Luisa; Bermejo-Sanchez, Eva; Martínez-Frías, María LuisaAs far as we know, this article represents the fi rst epidemiological analysis of two series of consecutive newborn infants who presented with monosomy X or three X chromosomes, using data from ECEMC’s case-control study. For this analysis, four groups of newborn girls were used: infants with 45,X, those with 47,XXX, all other newborn females with congenital defects, and the group of female controls. Two types of comparative analyses between those groups were performed: the fi rst includes the study of anthropometric variables at birth, and of the maternal and paternal ages; the second approach analyzes the relative frequency of each congenital defect in the two groups of girls with 45,X, and 47,XXX. To do this, we divided the frequency of each defect observed in newborn females with 45,X and 47,XXX, by the corresponding frequency observed in the group formed by the females with other birth defects. The value of this quotient for each anomaly, offers the times each defect is more (or less) frequent among the girls with each chromosomal alteration than in the group of newborn girls with other defects. Results from the fi rst group of analyses: These showed signifi cant differences for: a lower birth weight in 45,X infants (Table 2), who only differ in the gestational age (Table 4) from the group of control females, having an OFC lower than that of the two reference groups (Table 4). However, regarding the newborn length (Table 5) of both 45,X and 47,XXX infants, it was lower than among the two reference groups. Finally, regarding the analyses of the parental ages (Tables 6,7), the differences are established in relation with a statistically significant higher maternal age in infants having three X chromosomes than the other three groups. Moreover, the analyses of the mean parental ages differences (Table 8), suggest that the extra X chromosome in infants with 47,XXX, is of maternal origin. Results from the second group of analyses: The clinical analyses showed that newborns with 45,X have many more congenital defects than the group presenting with three X chromosomes. In addition, this approach depicts those defects that are signifi cantly more frequent (expressed as the number of times they are more frequent) in each of the two series of infant girls with 47,XXX and 45,X (Tables 9 and 10, respectively) than in the group constituted by the rest of newborn girls (within the same period of time and hospitals). Moreover, it is also shown that other birth defects have the same frequency in the three groups of girls with congenital anomalies, which suggests that they may not be related with the chromosomal abnormality, but attributable to the population risk. Conclusions: With consecutive series of newborn infants with congenital defects, we can structure series of cases with the same type of cause. This is highly valuable since this allows us to defi ne both the spectrum of birth defects for each cause and the type of defects that are specifi cally associated with the cause. This information is of enormous importance either for prenatal diagnosis, or for a correct diagnosis and prognosis, including the anticipatory guidance.Publication Análisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2011-12) Martínez-Frías, María Luisa; Cuevas Catalina, María Lourdes; Grupo Periférico del ECEMC; Bermejo-Sanchez, EvaIt is presented here the analysis of the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2010. Among a total of 2,648,286 newborns surveyed, 39,434 (1.49%) had congenital defects detected during the first 3 days of life. This group of infants with congenital anomalies was distributed according to the clinical presentation of their defects as isolated (73.94%), multiply malformed (13.53%), and syndromes (12.53%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.47% of genetic cause, 20.28% multifactorial, 1.35% produced by environmental causes, and the etiology of the defects was unknown in the remaining 57.90%. The secular distribution of the 3 main groups of clinical presentation (isolated, multiply malformed and syndromes) was studied and all of them showed a decreasing trend along the years, probably as a consequence of the impact of the interruption of pregnancy of some affected foetuses. The different types of syndromes identified and their minimal frequency values are also presented, separated by type of cause (Tables 4-10). Finally, the proportion of cases with birth defects by ethnic groups, first including (Graph 8) and then excluding (Graph 9) two groups of whites, the autochthones and the immigrant whites group. Due to the small samples in most non-white groups, the differences are not statistically significant, except for a significant higher frequency among Gypsies than in the white groups (both native and foreigner), the black group, and the one of Other (including mix groups).Publication Análisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2012-12) Martínez-Frías, María Luisa; Cuevas Catalina, María Lourdes; Grupo Periférico del ECEMC; Bermejo-Sanchez, EvaThis chapter is aimed at epidemiologically analyze the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) during the period 1980-2011. A total of 2,735,086 newborns were surveyed, and 1.47% of them (40,329) had congenital defects detected during the first 3 days of life. This global frequency has significantly diminished along the time, mainly as a consequence of terminations of pregnancy (ToP) after the detection of fetal anomalies. This decrease is very marked for blastogenetic defects. The distribution of cases by clinical presentation of their defects revealed that 73.91% had isolated defects, 13.58% were multiply malformed, and 12.51% had different syndromes. The decreasing trend along the time affects all forms of clinical presentation. The etiologic distribution of infants with congenital defects is also presented: 20.46% had a genetic cause, 1.37% was due to environmental causes, 20.19% were multifactorial, and 57.98% were of unknown cause. The different syndromes identified are listed in Tables 5-11, separated by type of cause, and the minimal estimate of their frequency is also included. A special attention was paid to the distribution of the different types of syndromes (regarding their etiology), by ethnic groups in Spain.Publication Análisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2010-12) Martínez-Frías, María Luisa; Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Grupo Periférico del ECEMCHere it is presented the analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2009. Among a total of 2,561,162 newborns surveyed, 38,503 (1.50%) had congenital defects detected during the fi rst 3 days of life. This group of malformed infants was distributed according to their clinical presentation as isolated (73.98%), multiply malformed (13.51%), and syndromes (12.52%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.46% of genetic cause, 20.40% multifactorial, 1.33% produced by environmental causes, and the etiology of the defects was unknown in the remaining 57.81%. The secular distribution of the 3 main groups of clinical presentation (isolated, multiply malformed and syndromes) was studied and all of them showed a decreasing trend along the years, probably as a consequence of the impact of the interruption of pregnancy of some affected foetuses. The different types of syndromes identifi ed and their minimal frequency values are also presented, separated by type of cause. Finally, the distribution of cases with birth defects by ethnic groups is also analysed, as well as the proportion of autosomal dominant and recessive syndromes, and also those due to both numerical and structural chromosomal alterations in all the ethnic groups. Due to the small samples in most groups, the differences are not statistically signifi cant, except for autosomal recessive syndromes that are signifi cantly more frequent in Gypsies than in the white groups (both native and foreigner), the black group, and the one of Other (including mix groups).Publication Análisis de alteraciones cromosómicas estructurales y su distribución por cromo- somas en la serie de recién nacidos con defectos congénitos del ECEMC(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2011-12) Martinez-Fernandez, Maria Luisa; MacDonald, Alexandra; Aceña, Mª Isabel; Bermejo-Sanchez, Eva; Grupo Periférico del ECEMC; Martínez-Frías, María LuisaThis study was aimed at estimating the frequency of unbalanced structural chromosomal anomalies identified in the consecutive series of newborn infants with congenital defects, registered in the Spanish Collaborative Study of Congenital Malformations (ECEMC). These cases were cytogenetically studied at its laboratory since 1981 up to December 2009. A total of 4,681 cases were studied following a protocol established by ECEMC program, which starts by performing a high resolution karyotype (550-850 bands), and if the results are normal, it is followed by the analysis of subtelomeric regions and depending on the clinical manifestations, some FISH and MLPA analyses were applied in order to also rule out microdeletion syndromes. The parents and other relatives were also studied when necessary, according to ECEMC’s protocol. A total of 136 cases had unbalanced chromosomal structural anomalies. Data were analyzed either globally or in two periods including the years 1981-1994, and 1995-2009 which are before and after starting the use of FISH techniques in the ECEMC`s laboratory. Among the 136 total cases having unbalanced structural anomalies, 71.32% were cytogenetically detected, and the remaining 28.68% by FISH. Each type of anomaly was distributed by involved chromosome separating those affecting p and q arms. In the group of cytogenetically detected anomalies, deletions (42.55% of cases) were 2.1 times more frequent than duplications (20.22%). Deletions affecting short arms were 3 times more frequent than duplications. Among cases detected by FISH techniques, deletions were 15.49 times more frequent than duplications, the 22q11.2 microdeletion being the most common (38.46% of the cases), followed by the deletions in chromosomes 15 (15.38%) and 4 (10.26%). Some of these alterations were identified by the clinical suspicion of their specific syndromes (Wolf-Hirschhorn, Prader-Willi, Williams-Beuren, Miller-Dieker, etc), and this could somehow bias their frequencies (see Table 3). In addition, some other unexpected microdeletion syndromes were detected such as two cases with microdeletion 1p36, one case with each of the following microdeletions: 2q23.1, 5q31, and a deletion 12q13.3-q21.2, including the region of the known microdeletion syndrome 12q14, but it is possible that may be other not hitherto identified. To our knowledge, this study represents the first one analyzing the frequency of chromosomal alterations globally and by each one of the 23 chromosomes on a consecutive series of newborn infants with congenital defects which are detectable during the first three days of life. It is also remarkable that all the cases were studied with the same protocol and the same team of specialists.Publication Análisis de la utilización de medicamentos y otros datos demográficos en la población inmigrante (período 2000-2004)(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2006-10) Rodríguez-Pinilla, Elvira; Mejías, C; Fernández, P; Lucas, V; Martínez-Frías, María Luisa; Grupo de Trabajo del ECEMCObjective: To detect significant variations in variables related to the care of gestation between the immigrant and autochthonous pregnant women in Spain. Material and Methods: Data come from the Spanish Collaborative Study of Congenital Malformations (ECEMC), an ongoing hospitalbased case-control study and surveillance system. Collaborating physicians, identify the cases and control infants, and collect the same information in both groups of children (about 312 data) on reproductive and family history, and prenatal exposures. We have analysed the mothers of the control infants of the ECEMC during the period 2000 to 2004. Results: Of the total of 5,443 control's mothers, 715 were immigrants (13.14%). These immigrant women compared to the Spanish ones, are younger, plan less their pregnancies and realize fewer visits to the gynaecologist during gestation. Regarding to the use of 36 groups of drugs during pregnancy, immigrants consume less vitamins and antianemic preparations (including iron and folic acid) and drugs for thyroid therapy (both thyroid and antithyroid preparations), and more drugs for gynaecological infections and for cardiac therapy. Conclusions: The results strongly suggest that immigrant women have less medical health control during their pregnancies than autochthonous population. Thus, it is necessary to promote campaigns to inform preventive measures to this population.Publication Análisis de los principales aspectos clínico-epidemiológicos de los recién nacidos con defectos congénitos registrados en el ECEMC(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Bermejo-Sanchez, Eva; Mendioroz, J; Cuevas Catalina, María Lourdes; Mansilla, E; Martínez-Frías, María LuisaSome clinical aspects of the total set of infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2004, have been analyzed through an epidemiological approach. The ECEMC is defined as a clinical-epidemiological research program on congenital defects, and is built on an ongoing case-control, hospital-based registry of newborn infants in Spain. The ECEMC database for the study period is constituted by a total of 32,883 infants with congenital anomalies detected during the first 3 days of life, that represent 1.61% of the total births surveyed (2,045,751). In order to study the clinical presentation of infants with birth defects, the classification system developed in the ECEMC [Martínez-Frías et al., 2002: Rev Dismor Epidemiol V(1):2-8], which is based in the most modern concepts in Dysmorphology, has been applied. The infants were distributed in the 3 main groups of isolated, multiply malformed, and syndromes, as well as some other subgroups. The analysis of the time distribution of the prevalence of the 3 main groups of clinical presentation confirmed a significant decrease for all of them, that may be considered, at least in great part, as a consequence of the impact of the interruption of some affected pregnancies after the prenatal detection of anomalies. After studying the distribution by clinical presentation of 17 defects that were selected (based on their relative high frequency at birth, or the high morbidity/mortality that they bear, and their monitoring in other countries), a high clinical heterogeneity was evident, since most of them are presented as isolated, or associated to other birth defects. Some, such as gastroschisis, hypospadias, or anencephaly, tend to present isolated, while other, such as anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis, use to be associated to other developmental abnormalities. The etiologic distribution of infants with congenital anomalies has also been studied, and the different syndromes identified in the ECEMC has been detailed, indicating their respective gene map location if known (based on the OMIM database up to July 2005), as well as their minimum birth prevalence in the Spanish population (based on the ECEMC database). The study concludes highlighting the importance of accurate case definition and classification in clinically homogeneous groups in order to optimize, not only the power of epidemiological studies in investigating the causes of birth defects, but the molecular analysis of patients with accurate clinical diagnoses. Thus, probably molecular genetic studies implemented to birth defects epidemiology will also help to reach the final objective of infants being born healthy.Publication Análisis Epidemiológico de las infecciones urinarias y la exposición a Fosfomicina durante el embarazo en madres de niños con y sin defectos congénitos: Distribución por años y por comunidades autónomas(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2011-12) García-Benítez, María Regla; Real, María Montserrat; Fernández, Paloma; Bermejo-Sanchez, Eva; Martínez-Frías, María LuisaThe objective of this study was to epidemiologically analyze urinary tract infections (UTI) suffered by pregnant women, and the prenatal exposure to Fosfomycin. To accomplish this objective, data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) were analyzed for the period 1978-2009. A total of 40,060 newborn infants with congenital defects, and a similar number of healthy controls were registered. The proportions of mothers of cases and controls who suffered UTI during the first trimester were 2.69% and 2.56%, respectively. These figures go up to 9.94% and 8.86% when considering UTI at any time during pregnancy. The proportions of mothers who were treated with fosfomycin during the first trimester of pregnancy were 0.67% and 0.69%, respectively for cases and controls, and those figures go up to 2.69% y 2.54% when considering exposures at any time during pregnancy. Use of fosfomycin at any time during pregnancy has progressively increased with time. When studying the geographical distribution of the frequency some differences regarding UTI and use of fosfomycin were detected. The increase in use of fosfomycin has caused a decrease of the use of other antibiotics, and these trends are also observed in several autonomous regions in Spain. The use of fosfomycin during pregnancy seems to be safe, and suffering an UTI is quite common during pregnancy and somehow dangerous for the progress of gestation. It is important to underline that the percentage of mothers without treatment was between 20 and 35%. Therefore, it is advisable to treat UTI as soon as possible, in order to avoid complications both for the mother and fetus.Publication Anomalía de Duane: Descripción y Guía Anticipatoria(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Mendioroz, J; Bermejo-Sanchez, EvaDuane anomaly is a congenital form of strabismus clinically characterized by a non-progressive ophthalmoplegia that hinds the ability to move the affected eyes horizontally outward and/or inward. Furthermore, the ocular globe retracts into the orbit, and the palpebral fissure narrows when adduction is attemped. This anomaly is caused by a primary disturbance in the developement of the III, IV and VI cranial nerves that leads to an aberrant inervation of the extraocular muscles. The frequence of this anomaly in the general population accounts for 0.1%, and represents around 1-5% of the cases with congenital strabismus. Duane anomaly can be isolated or associated with other congenital anomalies as a part of several syndromes. Most cases are sporadic but some patterns with dominant autosomal inheritance have been reported. The diagnosis of Duane anomaly is not easy in newborns, and patients with congenital strabismus must be followed up to make the diagnosis. In this article we describe the clinical characteristics of the Duane anomaly and we provide an anticipatory guidance that may be useful in clinical practice.Publication Anomalía de Möebius y el concepto de secuencia malformativa: Importancia del conocimiento y uso adecuado de la terminología(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Martínez-Frías, María LuisaA review of the literature shows that a large variety of terms is used to refer to the Möebius anomaly. These include diagnoses such as "Möebius syndrome", "Möebius sequence", "Möebius spectrum", "Möebius syndrome-limb abnormalities" "Möebius sequence-hypogeni- talism-cerebral, and skeletal malformations" and even three types of syndromes numbered "Möebius syndrome 1, 2 and 3", with different chromosomal loci. The Möebius anomaly is believed to comprise paralyses of some cranial nerves and their consequences. Thus, based in the concepts delineated by an International Working Group regarding errors of morphogenesis [Spranger y cols., 1982. J Pediatr 100:160-165], it constitutes a sequence: the "Möebius sequence." As such, it may be observed in different types of malformed infants, whether isolated (with only the Möebius sequence), with multiple congenital anomalies (MCA) patterns, or with different types of syndromes. That is, in multiple clinical presentations with different causes. It is important to keep these concepts in mind, because the term "syndrome" means that all affected infants will have similar characteristics, generally the same cause, and the same recurrence risk. If we do not use the current dysmorphological concepts, the information given to the family may be confuse or, what is worse, erroneous.Publication Anomalías Congénitas en España: Vigilancia epidemiológica en el último cuarto de siglo (1980-2004)(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Mendioroz, J; Martínez-Frías, María LuisaThe main results of the annual surveillance of congenital anomalies performed in the ECEMC (Spanish Collaborative Study of Congenital Anomalies) are presented here. The analysed data correspond to the last 25 years (1980-2004). A total of 2,045,751 newborn infants were surveyed, for an overall coverage of 23.39% of births in Spain. Among those infants, 32,883 were registered because of the presence of congenital defects detected during the first three days of life, for a prevalence of 1.61%. A statistically significant decrease of the global prevalence has been observed after the passing of the law permitting terminations of pregnancy (TOP) following prenatal detection of malformations. According to the ECEMC's data, that decrease can be attributable to the impact of TOP on the neonatal frequency, as there is an increasing number of defects that can be prenatally detected. The global decrease is also observed in most of the 17 Spanish Autonomic Regions, and is statistically significant in 11 of them. After studying the secular trend for some selected anomalies, either globally or by Autonomic Regions, the decrease is the rule. However, given the difficulties to routinely gather data on TOP, the epidemiological and etiological analyses including them are still almost unfeasible. Another circumstance that has to be taken into consideration in any investigation on congenital defects in our country, is the increasing number of immigrant people having infants in Spain, as it has been observed in the ECEMC's data. Finally, the versatility of the ECEMC registry to adapt itself to changes in the surveyed population and in knowledge, is highlighted, as well as the accomplishment, in the ECEMC, of the objectives summarized by the NBDPN (National Birth Defects Prevention Network), from the USA, in their guidelines for conducting birth defects surveillance, edited in 2004.Publication Aproximación al concepto de prevención cuaternaria en Genética y Dismorfología Clínica(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2005-10) González de Dios, JPreventive medicine is an important area of health care, mainly in Primary Health Care. Because it is acted on healthy people (in Genetics and Dysmorphology mainly in foetal and neonatal period), preventive medicine needs even stronger supporting evidence (on benefits, harms and costs) than therapeutic and/or diagnostic interventions. The aims of this article are: a) to present the theorical concepts related to screening test in Genetics and Dysmorphology for early diseases detection, with special attention to main potential harm in overdiagnosis (false positive), causing unnecessary anxiety and intervention, and also to screening bias; and b) to present the interesting relation between preventive medicine with two new concepts (quaternary prevention and cascade effect), because it is important to know the clinical and ethical implications of screening programmes and to achieve and evidence-based decision-making in this outstanding area of health. Quaternary prevention is a new concept in preventive medicine (beyond the classical primary, secondary and tertiary prevention) whose objective is to avoid and/or to diminish the unnecessary medical intervention, and is the practical version of the "primum non nocere". Quaternary prevention has a multifactorial origin, in relation to social, cultural, economic, political and/or medical factors. Today, we have the danger to happen towards the "risk culture" and, consequently, to the diagnostic, therapeutic and/or preventive excess, named as cascade effect, with clinical and ethical implications in medical practice. Genetic testing of children is an interesting field in this area of preventive medicine. It is clearly appropriate to perform genetic testing of minors when the problem in question can be rectified, treated, or prevented but the decision is difficult when the risk from the test may be significant, the statistical risk of disease is minimal, and the benefit or early diagnosis is small. Hereditary haemochromatosis, by example, would seem to be an ideal disease for community population-screening with genetic testing, but the major concerns have been the uncertainty surrounding the natural history of untreated disease, informed consent, labelling and stigmatisation among participants that may never develop illness, and genetic discrimination. In Dysmorphology is interesting to know the real value of "guide signs" for posterior diagnostic and screening tests, and we expose to examples on the matter: developmental dysplasia of the hip and Prader-Willi syndrome.