Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2002 - Serie V Nº 1
http://hdl.handle.net/20.500.12105/5714
2024-03-28T13:25:17ZBoletín del ECEMC: Revista de Dismorfología y Epidemiología 2002; Serie V Nº 1
http://hdl.handle.net/20.500.12105/13641
Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2002; Serie V Nº 1
2002-10-01T00:00:00ZBoletín del ECEMC: Revista de Dismorfología y Epidemiología - 2002 - Serie V nº 1
http://hdl.handle.net/20.500.12105/13640
Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2002 - Serie V Nº 1
2002-10-01T00:00:00ZEl Centro de Investigación sobre Anomalías Congénitas (CIAC) y el ECEMC
http://hdl.handle.net/20.500.12105/13639
2002-10-01T00:00:00ZIntroducción a la nueva estructura del Boletín
http://hdl.handle.net/20.500.12105/13638
2002-10-01T00:00:00ZDefecto de la Zona de Desarrollo primaria del esqueleto axial (Síndrome de Jarcho–Levin, “Fenotipo Jarcho–Levin”)
http://hdl.handle.net/20.500.12105/13637
We have used data from the Spanish Collaborative Study of Congential Malformations (ECEMC), to epidemiologically analyze anomalies of the axial skeleton, from the clinical, etiological and pathogenetic points of view. Since 1980, a total of 1,847,301 newborn infants were surveyed. Among them, 31,604 were malformed. In 283 infants, anomalies of the spine and/or ribs were observed. The ECEMC´s coding system includes several levels to code defects and patterns of anomalies. This made the present analysis possible. In the first level, each specific defect is coded. The second level has three sublevels to define the global pattern of defects of each infant, as well as the different types of patterns that can be distinguished in infants with multiple defects, whether with or without having a diagnosis of some particular syndrome. This coding system allows to study specific defects or pattern of defects, according with the most modern dysmorphologic concepts. After applying this system to axial skeleton anomalies, we observed that among infants with isolated defects, only 0.14% had the axial skeleton affected. This percentage is higher among infants with MCA patterns (3.59%) and syndromes (1.91%). It is clear the great clinical and causal heterogeneity of these costal–vertebral anomalies. This supports our previous conclusion [Am J Med Genet 1994; 49: 36–44], on that axial skeleton anomalies are one of the results of the dysmorphogenetic reaction of the primary field, which is the whole embryo during blastogenesis. Therefore, the terms spondylo–thoracic dysplasia, spondylocostal dysplasia, costovertebral dysplasia, crab–like thorax, among others, are not diagnoses but different names for the diverse expressions of the primary developmental field of the axial skeleton. It is important the proper use of terminology, based on the current knowledge of developmental biology, in order to provide adequate counselling to families.
2002-10-01T00:00:00ZResultados del laboratorio de citogenética del ECEMC del año 2001. Nuevas técnicas de FISH y su implicación clínica
http://hdl.handle.net/20.500.12105/13636
We present here the results of the karyotypes found during the year 2001 in the ECEMC cytogenetic laboratory. All of the structural chromosome alterations found during this period were diagnosed using High Resolution G–band chromosomes (550–850 bands) and FISH techniques, including chromoprobe–Multiprobe–kits. The advances in cytogenetic and molecular cytogenetic techniques, have helped to detect quite small chromosome alterations. Nowadays, there are some groups working specifically in the telomeres, since these structures are regions full of genes and are implicated in most of the chromosome alterations. Nevertheless, the frequency and impact of these telomeric alterations in patients with mental retardation, malformations and/or other clinical manifestations, are still not clear.
2002-10-01T00:00:00ZAspectos Clínico–Epidemiológicos
http://hdl.handle.net/20.500.12105/13635
We have used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) to epidemiologically analyze some clinical aspects of infants with congenital anomalies. For this purpose all infants of the ECEMC database were classified following the Program ´s methodology, which is explained in detail in another work of this issue [Martínez–Frías et al., 2002]. Data were analysed in three periods: the first one includes the years 1980–1985 (before the passing of the law allowing voluntary interruption of gestation (VIG) due to prenatal detection of anomalies in the fetus); the second period corresponds to the years 1986–2000, and the last one is for the year 2001, which is the year analysed in this issue. In this paper, we show the distribution of infants in the three main groups of clinical presentation (isolated, multiple, and syndromes), as well as some specific types of defect patterns identified among the three main groups. In addition, we studied the distribution by clinical presentation of 17 selected congenital defects. These defects were selected because of their frequency, or the morbidity/mortality that they bear. The etiologic distribution of infants with congenital defects is also analysed in the three study periods. Moreover, we have specified all the syndromes identified in the ECEMC database, as well as the number of cases with each syndrome, their birth frequency, and their gene map location when possible (based on the OMIM database). It is important to underline that all the presented figures for syndromes and the study defects, are minimal estimations of the real frequency, because of several reasons. First, because of the possibility to perform a VIG after the prenatal detection of fetal anomalies, which is possible in Spain since 1985. Second, because some modern diagnostic procedures were not available in the first years of the study. Moreover, unfortunately, the results of some complementary studies are not available for review in some cases, being impossible to reach to a final diagnosis. Finally, because of the difficulty to identify some syndromes at birth. We emphasize that, for some of the environmental syndromes (such as fetal alcohol syndrome, diabetic mbryofetopathy, and those due to some maternal infectious diseases), primary prevention is possible if a proper information and education is provided to the population.
2002-10-01T00:00:00ZSíndromes muy poco frecuentes
http://hdl.handle.net/20.500.12105/13634
Many of the malformation syndromes are as very few frequent, that are rarely known by most of the paediatricians and geneticists or our population. This is an important difficulty to establish such diagnoses in affected patients that can remain undiagnosed for a long time, or even never been diagnosed. Moreover, the advances in the field of prenatal diagnosis and the possibility of interrupting the gestation if there are anomalies in the fetus, make such syndromes even be less frequent. For these reasons the experience of the young paediatricians and geneticists will become more and more limited. It is noteworthy that the ECEMC Registry is gathering data on infants with congenital defects since 26 years ago. The database includes more than 32,000 malformed infants, many of them with photos, X-ray, and others images. Besides, in the ECEMC laboratory, the karyotype with high resolution band (850 bands) and FISH techniques, is currently performed. Consequently, we have these studies for most of the multiply malformed infants. Systematically, the ECEMC group make a detailed clinical study on each malformed baby in order to identify syndromes and causes. Furthermore, the group is expert in evaluation of potential human teratogens. The group is participating internationally in the clarification and development of the concepts in dysmorphology, and describing syndromes. Taking all these points into considerations, we think that will be very useful to include a new section in the "Boletín del ECEMC", to present syndromes of extremely low frequency in our country. In this new section, we are presenting six very rare syndromes that, in our data, have a frequency of 1/1,887,538 newborn infants. However, some of then may be under-recognized due to their great variability in clinical expression.
2002-10-01T00:00:00ZConceptos básicos sobre metodología bioestadística: Aclaración sobre los términos proporciones, frecuencias relativas, porcentajes y riesgos relativos
http://hdl.handle.net/20.500.12105/13633
In medical research, it is very common to report results in terms of proportions and relative risks (RR). Unfortunately, the researchers do not always interpret these figures correctly and, sometimes, the media publish erroneous information. By these reasons, in this article we used several examples to explain different concepts, and the real meaning when the value of a relative risk is expressed in form of percentage. If we say that the exposition to a certain factor (let say smoking) increases the probability of getting a certain disease (i.e. lung cancer) in a 90%, the interpretation is frequently erroneous. What we are saying is that individuals exposed to tobacco have a risk of getting the disease (lung cancer) 1,9 times greater than those individuals not exposed to tobacco (Relative Risk = 1,9). That is, that the exposition to the study factor (tobacco) almost doubles the chances of getting the disease. Similarly, if we would like to express a relative risk of 4 in percentage, this should be expressed saying that the exposure to tobacco increases the probability to develop lung cancer of 400%.
2002-10-01T00:00:00ZPorcentaje de la recurrencia de los defectos del tubo neural (DTN) y sus frecuencias en España: Evolución temporal de las mismas y su posibles causas
http://hdl.handle.net/20.500.12105/13632
We analysed the birth prevalence of the different types of neural tube defects (NTD) in Spain in four periods of time, as well as their recurrence in our population and their variation along the time and causes. We have used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), with a total population of 1,703,322 births surveyed since 1980 till June 2001. After excluding those cases with syndromes of any etiology, and those with two different types of NTD, or the presence of discordant NTD in different sibs, a total of 937 infants with NTD were available for the present study. Birth prevalence of all forms of NTD show diminishing trends since 1985, when the law allowing voluntary interruption of gestations (VIG) with congenital defects was passed in Spain (Table 1, and Graph 1). The tendency is more marked for anencephaly and encephalocele than for spina bifida (Table 2). The recurrence (measured as pre–ocurrence) has also decreased with time, being 3.33% for NTD (Table 3) in the basal period (1980–1985), and 3.14% for anencephaly, 5.71% for encephalocele, and 2.31% for spina bifida. However, since the year 1985, the recurrence of anencephaly and encephalocele was cero, while for spina bifida (Table 4) decreases in 99.77% in the following period (1986–1992), and 100% in the other two consecutive studied periods. We also analysed the proportion ofmothers of cases and controls who received folic acid supplementation at least during the first trimester of pregnancy. Although we started asking for pre–conceptional intake of folic acid since 1998, the question was included in the questionnaires in the year 2001. Based on those data, only 2 mothers of cases and 3 of controls, used the folic acid before the current pregnancy. It is difficult to determine whether the decreases of the birth prevalence and recurrence figures are due to the impact of VIG or, in some degree, due to the periconceptional supplementation with folic acid. However, we consider that the group of mothers who have had a previous affected pregnancy, should constitute the group of population with a more adequate ingestion of folic acid. Nevertheless, the dramatic decrease of the recurrence in our population must be in part due to a secondary prevention produced by the VIG (which does not avoid the alteration of prenatal development) and, in part, to the primary prevention (which prevents the alteration of prenatal development) produced by the folic acid supplementation. In fact, the frequency of spina bifida, decreases “only” in a 56.95% in the last study period of time (Table 2), while its recurrence decreased in a 100%. We consider that there is no reason for not prescribing the adequate doses of folic acid to all women planning pregnancy, or not informing women at childbearing age about the convenience of starting supplementation before getting pregnant. However, to be sure that the prevention reach to thewhole population, includingmarginal groups, and those 50 and older, the Health Authorities of our country, should consider, as soon as possible, the necessity to fortify a generally used food like the flour. To paraphrase Oakley [2002], the opportunity to implement inexpensive passive population intervention to prevent severe human diseases come rarely, and fortification of flour is one of those rare opportunities.
2002-10-01T00:00:00ZDefectos congénitos oculares: algunos aspectos clínicos y epidemiológicos
http://hdl.handle.net/20.500.12105/13631
We used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), to analyse some clinical and epidemiological aspects of congenital ocular defects. During the study period (April 76 to March 2000) and after excluding infants with Down síndrome (because all of them had epicanthal folds), a total of 1,257 had ocular defects, for a birth prevalence of 7,5 per 10,000 liveborn infants. This figure is similar to that observed by other authors. Microphthalmia is the most frequent ocular defect identified in the ECEMC data base (1,56 per 10,000). The frequency distribution of the ocular anomalies has been quite stable along time. Regarding the distribution by clinical presentation of ocular defects, the most frequent group is that of infants with multiple congenital anomalies (51,63%), followed by those with syndromes (33,97%). In relation to the etiological distribution of the ocular defects, we observed that these defects can be caused by environmental agents (3,74%), or genetic disorders. These last ones can be of monogenic origin (15,83%) of any type of inheritance, or caused by different types of chromosomal anomalies. Taking into account all these observations, some guidances could be delineated with respect to infants with congenital ocular defects. A careful examination searching for other associated anomalies must be performed, particularly of the central nervous system (CNS). On the other hand, after excluding the possibility that the defects could have been caused by an nvironmental factor, a chromosomal study with high resolution (850 bands) techniques has to be done, as well as FISH techniques if indicated, together with a complete family history. All these data together with the early detection of the ocular and other anomalies, are important for treatment and prognosis of the affected patients and to give counselling to the family. Moreover, in infants with CNS anomalies, an ophthalmologic examination should be mandatory and vice versa. Based in the results of our population, we consider extremely important to inform the population about the harmful effects of alcohol drinking during pregnancy, vaccinations and other preventive measures with respect to some infections during gestation.
2002-10-01T00:00:00ZUtilización de corticosteroides por vía tópica durante la gestación
http://hdl.handle.net/20.500.12105/13620
Topical costicosteroids (TC) are relatively frequently used drugs, but little is known of the safety of their use during Pregnancy. Data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), an ongoing hospital– Based case–control study and surveillance system, was analyzed. The use of TC during pregnancy in Spain has increased significantly during the period 1977–2001. At present, around 0,8% of the pregnant women received a treatment with TC during any moment of gestation. The overall OR for congenital defects after prenatal exposure to TC during the first trimester of pregnancy was 1.45 (CI:0.91–2.30; p=0.10). Thus, treatments with TC in pregnancy do not appear to noticeably increase the risk for congenital defects.
2002-10-01T00:00:00ZVigilancia Epidemiológica de Anomalías Congénitas en España durante el período 1980–2001
http://hdl.handle.net/20.500.12105/13619
We analysed the data gathered by the ECEMC Program since 1980 till 2001, in order to study the frequency of congenital defects (CD) among more than 1.800.000 newborn infants in Spain, its evolution over the time, and the birth prevalence of CD in the different Spanish Autonomic Regions (AR). The analysis also included the birth prevalence of series of selected CD (because of their relatively high frequency, or the mortality/morbidity they bear), their time distribution, their combined distribution by time and AR, and the impact of the voluntary interruption of gestation (VIG) after prenatal detection of anomalies in the fetus. We analysed the data in 3 periods: 1980–1985, which is the period preceding the pass in Spain of the law allowing VIGs before the 22 weeks of gestation due to congenital defects in the fetus. 1986–2000, which is the period following the pass of the mentioned law, and 2001, which is the year we are analysing. The prevalence figures in the first period can be considered as de baseline frequencies in our population, since the VIG was not permitted by law. We have observed statistically significant decrease of the global frequency of CD, which was 1.14% in 2001, being 2.22% in the base period. The main cause of this decrease frequency, are VIGs after prenatal detection of CD in the fetus. We have also analysed the data gathered on VIGs due to CD, but the results are not substantially modified, since not all the articipating hospitals can report data on VIGs. Regarding the global prevalence observed in the different AR, we detected significantly decreases in 11 of the 17 AR. Only Extremadura experiment a significant increase trend, which is attributable to the improvements in the neonatal care units permitting to take care of infants that in the past were born in other Regions after prenatal diagnosis of CD after the 22 weeks of gestations. Among the 16 selected CD, 12 show a statistically significant decreasing trend along the time. These are: anencephaly, spina bifida, encephalocele, hydrocephaly, anophthalmia/ microphthalmia, cleft palate, cleft lip, diaphragmatic hernia, hypospadias, omphalocele, limb reduction defects, and Down syndrome. Some others defects shown a tendency to diminish, but without reach the statistical significance. It is important to comment that hypospadias, that have had a stable frequency along the time until 1995, showed an important decreasing frequency in 1996, and since that moment have been stable but in low levels of frequency. A specific study is being conducted nowadays in order to figure out the cause of such change in their prevalence. Six defects (anencephaly, spina bifida, cleft palate, cleft lip, limb reduction defects, and Down syndrome), show a generalized tendency to diminish their frequency at birth over the time in the different AR, although in some of them the tendency is not statistically significant yet. In conclusion, it is clear from our data, the great impact of VIGs on the birth prevalence of CD. However, we could consider that some other factors, such as the primary prevention of neural tube defects and other anomalies with periconceptional intake of folic acid may also affect to the decrease birth frequencies. Other measures, as the better planning and care of pregnancies, may also act as a primary prevention. However, at present times, it is near impossible to analyse their individual contribution.
2002-08-01T00:00:00ZResultados de las llamadas recibidas por el Servicio de Información Telefónica sobre Teratógenos Español (SITTE) y por el Servicio de Información Telefónica para la Embarazada (SITE) durante el año 2001
http://hdl.handle.net/20.500.12105/13604
We present the results of the calls received by the Spanish Teratology Information Services, (SITTE directed to health professionals and SITE directed to general population) during 2001. The total number of calling has been of 5.753, corresponding 1.438 of them to the SITTE and 4.315 to the SITE. This number has suffered an increasing in comparison with the year 2000. Calls from all the Spanish Regions (Comunidades Autonómas) have been received. The most frequent enquiry in both services was the drugs during pregnancy. Among them, the psycholeptics and psychoanaleptics are the more often type of drug consulted.
2002-08-01T00:00:00Z