Prévention des troubles majeurs du développement : proposition d'une stratégie basée sur la mise au point personnelle de 420 observations
(1994)
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- Major congenital malformations (MCM) have stimulated imagination for centuries. In addition, they became in 1993 the first cause of perinatal deaths. In this work, we try to define a way to reduce their burden in attemption at lowering their incidence at birth. <BR> In the first chapter, we review and discuss the main nosological classification systems pertaining to congenital malformations in general and MCM in particular. It is mainly the pathogenic classification based on the concept of morphogenetic field of development, the aetiological and the anatomical classifications which are analyzed and discussed. In terms of prevention, however, we favour the aetiological system. This last system is detailed and we explain the reasons why the series published in the medical literature have different figures as compared to ours. At the end of the chapter, we try to draw a global etiopathogenic scheme that would to be applicable broadly to normal and pathologic morphogenesis. <BR> In the second chapter, we go into details in describing the applied methodology when studying MCM and describe the protocol used in our institution. This protocol is virtually adaptable to every case. We insist on crucial importance of coordination, organized by a physician who tries to control the whole process from autopsy to birth of a subsequent normal child. In recent years we adapted to very different practical situations combining the use of the protocol with new facilities offered by progresses in diagnostic procedures, including clinical dysmorphology, high resolution cytogenetic, molecular biology, biochemistry and increasing personal experience. We adapted also to widespread use of prenatal diagnosis with, as a consequence, division of our diagnostic approach into two categories : before and after 24-26 weeks of gestation. <BR> In the third chapter, we consider the issue f registering, within a defined area, the highest number of MCM cases thanks to collaboration of multiple actors. This task is presently greatly facilitates by the Eurocat network in which our structure is included. Some general informations on the main international organizations controlling the data on MCM are given (Clearinghouse and Eurocat) with emphasis being given on the advantages and weakness of these systems. We finally suggest a model inspired by the integration of Loverval’s centre to Eurocat. <BR> The fourth chapter is devoted to our personal data as a result o the proposed methodology. We subdivide the MCM in chromosomal, monogenic, multifactorial, environmental and idiopathic. We compare the results of the literature with those of our own series. The yields of our system appears rather higher than that of previous series. Possible causes for this discrepancy are discussed , the main potential bias being the fact we were more concerned in this work by the MCM than by congenital has played a great part in this high yields and more particularly in working up the group of the so-called idiopathic congenital malformations. <BR> In the fifth chapter, we give some enlightenments on the means and the strategy to be developed in order to significantly reduce the incidence of MCM at birth. This strategy based on the presently described organization is also made of close relationships between genetic counselling and prenatal diagnosis. This strategy has been summarized in table XII and it includes all the cases of MCM of our series, mentioning aetiologies, recurrence risks, prognosis and when indicated, treatment, as well as feasibility and modalities of subsequent prenatal diagnosis. Once again we do insist in the most important task of the coordinator in finalizing this strategy. <BR> In the sixth chapter we evaluate for à 12-years period to 485 the number of normal infants born to parent having experienced the birth of a malformed baby. Accordingly, 29 malformed births have been avoided through application of this protocol. <BR> Finally, we explain how the material collected provided the basis for several biomedical scientific studies: developmental histology of cerebral cortex and corpus callosum, histology of the pancreas in different rare conditions, placental alkaline phosphatase expression in gonads during normal development and in chromosomally abnormal fetuses. Some bioethical issues end the work. <BR> In an addendum, we give some details concerning the used terminology (glossary) with illustrations and selected photos (72) most of tem unpublished related to chapter IV
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Gillerot, Y. (1994). Prévention des troubles majeurs du développement : proposition d’une stratégie basée sur la mise au point personnelle de 420 observations. https://hdl.handle.net/2078.5/111320