Results of the activity of the Spanish Teratology Information Services (SITTE and SITE) during 2006 and analysis of the maternal age and the number of planned pregnancies

Resultados de otras actividades del ECEMCWe present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2006. We also include a comparative analysis on maternal age and number of planned pregnancies between the population of mothers who called to SITE and the mothers of the ECEMC's controls (as a representative group of the general population). The total number of calls received in both services was 4,876 (898 and 3,978 from SITTE and SITE respectively).N

Clinical aspects and etiologic distribution of the newborn infants with congenital defects registered in the ECEMC

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCAn epidemiological 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 2006, has been performed. Among a total of 2,254,439 newborn 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 cause, 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.N

Diagnostic problem of malformed infants born from diabetic mothers

Epidemiología y Teratología: Resultados de estudios sobre los datos del ECEMCTaking into consideration that teratogenic agents do not alter the 100% of exposed pregnancies, we posit that each malformed infant born from a diabetic mother should no be automatically consider as having a diabetic embryofetopathy without a deep evaluation of other potential causal agents. The diagnosis of malformed infants whose mothers were diabetic is not always easy. For instance, if the child only have a cardiac defect, this may be due to maternal diabetes, but also to a big amount of other agents either genetics or environmental. In order to facilitate the diagnosis of infants born of diabetic mothers, we calculated and analyzed the concepts of frequency and specificity. To do this, we used the 33,076 malformed infants of the ECEMC (Spanish Collaborative Study of Congenital Malformations) database. Once we excluded 4,069 cases who had well known syndromes, 759 cases because their mothers had gestational diabetic, and 1,006 with not specification of the diabetic status of their mothers, we get 27,242 malformed infants for the present study. This group was divided in three study groups: the first one was made up with the 38 infants diagnoses as having a diabetic embryofetopathy. The second group included 64 malformed infants whose mothers were diabetics but they were not considered as having a diabetic embryofetopathy. Finally, the third group included the rest of 27,140 malformed infants whose mother had not diabetes mellitus or gestational diabetes. For the study we selected the defects and group of defects included in Table 1. We calculated the relative frequency (FR), by dividing the percentage of each of the studied congenital malformations in the two groups of infants whose mothers were diabetic, by the percentage of the same malformation in the group of infants born of non diabetic mothers. Obviously, all the studied defects, but hypospadias, nevus/angiomas, and digestive atresias (which were included as controls, since they are not considered part of the diabetic embryofetopathy), have to be significantly more frequent in the first group, because the infants were diagnosed based in the presence of these defects in their patterns. But this group permit to understand the concepts of frequency and specificity. In fact, Table 1 shows that while the most frequent defect in this consecutive series of infant born with diabetic embryofetopathy, correspond to vertebral anomalies (44.74%), followed by cardiovascular defects (39.47%), the most specific is sacral agenesis/hypoplasia, because it frequency in this group is 131.56 times higher than in the group of infants of non diabetic mothers. In this table, it is also shows that in the group of malformed infants whose mothers were diabetics, some of them may have diabetic embriofetopathy, but were not diagnoses because the lack of some type of information (such as karyotypes, family history, prenatal exposure to others potential related factors, among others). We discussed the importance of performing the diagnosis of malformed infants born to diabetic mothers taking into consideration that among this group of mothers, we can also observed malformed infants with different type of yndromes that in many cases are clinically indistinguishable from the diabetic embryofetopathy (i.e. Jarcho-Levin or Casamassima syndromes, chromosomal abnormalities...), or with isolated malformations (i.e. cardiovascular), that may, or may not, be related with the maternal diabetes. All these consideration are important, not only because the recurrence risk could be much higher than that of the maternal diabetes, but also because the secular increasing trend in diabetic mothers due to the life style.N

Vitamin A and pregnancy: review of the literature and risk assessment

TeratologíaVitamin A plays a key role in many essential biological processes, such as the embryonic development, regulation of proliferation and diferentiation of many cell types. The present article reviews the biochemistry, metabolism and mode of action of retinoides (including vitamin A), as well as their role in the embryo development and their teratogenic effect on animal and human beings.N

Structural and functional findings in patients with moderate diabetic retinopathy

Purpose: To evaluate structural and functional ocular changes in patients with type 2 diabetes mellitus (DM2) and moderate diabetic retinopathy (DR) without apparent diabetic macular edema (DME) assessed by optical coherence tomography (OCT) and microperimetry. Methods: This was a single-center cross-sectional descriptive study for which 75 healthy controls and 48 DM2 patients with moderate DR were included after applying exclusion criteria (one eye per patient was included). All eyes underwent a complete ophthalmic examination (axial length, macular imaging with swept-source OCT, and MAIA microperimetry). Macular thicknesses, ganglion cell complex (GCC) thicknesses, and central retinal sensitivity were compared between groups, and the relationships between the OCT and microperimetry parameters were evaluated. Results: Macular thickness was similar in both groups (242.17 ± 35.0 in the DM2 group vs 260.64 ± 73.9 in the control group). There was a diminution in the parafoveal area thickness in the DM2 group in the GCC complex. Retinal sensitivity was reduced in all sectors in the DM2 group. The central global value was 24.01 ± 5.7 in the DM2 group and 27.31 ± 2.7 in the control group (p < 0.001). Macular integrity was 80.89 ± 26.4 vs 64.70 ± 28.3 (p < 0.001) and total mean threshold was 23.90 ± 4.9 vs 26.48 ± 2.6 (p < 0.001) in the DM2 and control group, respectively. Moderate correlations were detected between the central sector of MAIA microperimetry and retina total central thickness (- 0.347; p = 0.0035). Age, visual acuity, and hemoglobin A1c levels also correlated with retinal sensitivity. Conclusion: Macular GCC thickness and central retinal sensitivity were reduced in patients with moderate DR without DME, suggesting the presence of macular neurodegeneration.[Figure not available: see fulltext.] © 2021, The Author(s)

Clinical-epidemiological aspects of newborn infants with congenital anomalies registered through the ECEMC

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCData gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2003 have been analyzed to study some clinical aspects of congenital anomalies through an epidemiological point of view. Data of the ECEMC correspond to a consecutive series of newborn infants with congenital anomalies detected during the first 3 days of life. A total of 1,941,742 newborns were surveyed, and 31,646 (1.63%) of them presented with congenital anomalies. Malformed infants were distributed by clinical presentation as isolated, multiply malformed or syndromes, and some other subgroups were also established, according to our own classification system [Martínez-Frías et al, 2002: Rev Dismor Epidemiol V(1):2-8], based on the most modern dysmorphologic concepts. The 3 forms of clinical presentation are significantly decreasing along the time, mostly as a result of the impact of prenatal detection of anomalies and further interruption of some affected pregnancies. We also studied the distribution by clinical presentation of 17 selected defects. Those defects were selected because of their relatively high frequency at birth, or due to the high morbidity/mortality that they bear, and because their frequency at birth is also monitored in other countries and it would permit comparisons if necessary. A high clinical heterogeneity is common, as most of them appear in any clinical presentation. Some, such as gastroschisis, hypospadias, anencephaly, spina bifida, cleft lip, or diaphragmatic hernia, tend to present more frequently in their isolated form, while other, such as anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis, are usually associated to other anomalies. We performed the etiologic distribution of infants with congenital anomalies, and showed the different types of syndromes identified in the ECEMC and their gene map location, based on the OMIM database, also estimating their minimal prevalence at birth, based on our data. We underline the relevance of clinical analysis of malformed infants in order to organize homogeneous groups to which the epidemiological techniques can be applied. For these purposes, it is crucial a fluent contact between clinicians and epidemiologists, to enhance possibilities of statistical findings being also clinically relevant. At present, this is even more important to conduct molecular studies on specific groups of patients for investigating the causes of congenital defects.N

Resultados de la actividad de los Servicios SITTE y SITE durante el año 2005 y análisis de las llamadas por etnia materna

Resultados de otras actividades del ECEMCWe present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2005. The total number of calls received in both services was 5,385 (953 of them by the SITTE and 4,432 by the SITE). As in the last years, the most frequent enquiry in both services was the drugs exposure during pregnancy. We also analyzed the evolution by years of number of calls to the SITE according to maternal ethnic groupN

Evolución de ciertas características demográficas de las madres de niños sin defectos congénitos a lo largo de los últimos 26 años y por Comunidades Autónomas

Epidemiología y Teratología: Resultados sobre los datos del ECEMCIn this study we analyzed the evolution of maternal age along time (the last 26 years) and by Spanish Regions. We also estimated the sex ratio by each year of maternal age in the first pregnancy and in women with more than one previous pregnancy. The results showed that in all Spanish Regions, with some differences among them, there was an important increase in maternal age as the number of sibs increased. We also observed throughout the country an increase in the number of women working outside of the home. Additionally, the sex ration in the first pregnancy by each year of maternal age showed a high proportion of males in each maternal age from 15 years of, age to 36, but from 37 onwards, there were more females than males. This inversion was not observed in mothers with more than one previous pregnancy, who had more males than females in almost all ages. The progressive incorporation of women to the workforce is one of the factors used to explain the observed increasing age for the first pregnancy. This increasing maternal age could have different consequences, such as the alleged potential effect on the sex ratio at birth. Several authors have tried to explain these changes by applying the Trivers and Willard's model that hypothesizes that vertebrates adaptively vary the sex ratio of their offspring in response to the mother´s physical condition. We posit that this relationship is more complex than this. The notable advances in biomedical scientific knowledge and obstetric care have had a marked influence on human beings, not only as it relates to reproduction but also during all the stages of their lives. This influences all adaptive biological mechanisms that, together with the physiological differences with animals including primates, does not make it possible to apply the Trivers and Willard model to human beings.N

Clinical-epidemiological aspects of newborn infants with congenital anomalies

Dismorfología, Citogenética y Clínica: Resultados sobre los datos del ECEMCWe have used the data gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2002, in order to epidemiologically analyze some clinical aspects of a consecutive series of malformed newborn infants. Among a total of 1,838,654 newborns surveyed, 30,531 (1.66%) presented with congenital anomalies detected at birth. Data were analysed before and after the pass of the law permitting voluntary interruption of gestation (VIG) following the detection of anomalies in the fetus. Malformed infants were distributed by clinical presentation as isolated, multiply malformed or syndromes, according to our own classification system [Martínez-Frías et al, 2002: Rev Dismor Epidemiol V(1):2-8]. The 3 forms of clinical presentation are decreasing along the time, as a result of the impact of prenatal detection of anomalies and further VIG in some cases. We also analyzed 17 defects that were selected because of their relatively high frequency at birth, or due to the high morbidity/mortality that they bear, and because their frequency at birth is also monitored in other countries. Most of them show a high clinical heterogeneity, although some (such as gastroschisis, hypospadias, spina bifida, cleft lip, or diaphragmatic hernia) tend to present in their isolated form, while other (such as anophthalmia/microphthalmia) tend to associate to other anomalies. We also performed the etiologic distribution of infants with congenital anomalies in 3 study periods, and showed the number of cases in which the different types of syndromes were identified, as well as the minimal estimate of their frequency at birth and their gene map location, based on the OMIM database. We emphasize the importance of applying all known primary prevention measures, even more during blastogenesis, at the very early stages of pregnancy. On the other hand, we also underline the relevance of clinical analysis of malformed infants in order to organize homogeneous groups to which the epidemiological techniques can be applied. In this way, the statistical findings also will be clinically relevant. This is also important for the molecular studies that may give clues on the causes of congenital defects, as epidemiology of Human Genome can contribute to this kind of research, opening big opportunities in this field.N

Resultados de la actividad de los Servicios de Información Telefónica sobre Teratógenos (SITTE y SITE) durante el año 2004 y análisis del nivel cultural de la población usuaria

Resultados de otras actividades del ECEMCWe present a summary of the activity of the two teratology information services: SITTE (for health professional) and SITE (for the general population), during 2004. A total of 6.407 calls were received, 1.456 of them were made by health professional and the remaining 4.951 by the general population. Drugs were, one more year, the most common question in either services, specially drugs affecting CNS. We also analyzed the cultural level of the women that used the SITE during the last ten years. The results show that most of the users of the service belong to the higher cultural levels, measured by the level of their educational studies. We conclude that is necessary to consider new strategies particularly aimed to reach to those women with low level of education (or low cultural level).N