Publication: Problemática del diagnóstico de los niños malformados cuyas madres son diabéticas
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2004-10
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Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
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Abstract
Taking 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.
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Epidemiología y Teratología: Resultados de estudios sobre los datos del ECEMC
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Boletín del ECEMC: Rev Dismor Epidemiol 2004; V (nº 3): 46-53