RESUMEN
OBJECTIVE: To determine the prevalence and the timing of pregnancy termination relative to the type of central nervous system (CNS) malformations. Design Retrospective cohort study. SETTING: Multidisciplinary centre for prenatal diagnosis in the Languedoc-Roussillon region, France. POPULATION: A cohort of 481 pregnancy terminations performed between 2005 and 2009. METHODS: Detailed post-termination fetal and neuropathological analyses were carried out to identify the CNS malformations. Then, the prevalence and timing of pregnancy termination were assessed relative to the identified malformations. RESULTS: About one-third of pregnancy terminations (143/481) were performed for severe CNS malformations. Up to 24 weeks of gestation (WG), pregnancy terminations (56.6%) were carried out mainly for defects occurring during the two major first steps of CNS development (neurulation and differentiation of cerebral vesicles). After 24 WG, pregnancy terminations (43.3%) were mainly performed for corpus callosum agenesis (16/17), vermian agenesis (10/12) and gyral anomalies (13/15). For hindbrain malformations and gyral anomalies, there was a significant relationship between the timing of pregnancy termination and the presence of a severe ventriculomegaly at prenatal diagnosis (p=0.002 and p=0.02, respectively). CONCLUSION: By classifying CNS malformations according to the neuropathological analysis, the authors show that the timing and prevalence of pregnancy termination are distributed in a manner that is consistent with what is currently known on the development of brain. They are also influenced by the French prenatal screening policy and the variable expressivity of the brain malformations and associated lesions.
Asunto(s)
Aborto Inducido/estadística & datos numéricos , Encéfalo/anomalías , Enfermedades Fetales/epidemiología , Aborto Inducido/métodos , Síndrome Acrocallosal/diagnóstico por imagen , Síndrome Acrocallosal/epidemiología , Síndrome Acrocallosal/cirugía , Encéfalo/embriología , Ecoencefalografía/métodos , Femenino , Desarrollo Fetal , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/cirugía , Francia/epidemiología , Edad Gestacional , Humanos , Defectos del Tubo Neural/diagnóstico por imagen , Defectos del Tubo Neural/epidemiología , Defectos del Tubo Neural/cirugía , Embarazo , Estudios Retrospectivos , Rombencéfalo/anomalías , Rombencéfalo/diagnóstico por imagen , Ultrasonografía PrenatalRESUMEN
Schizophrenia epidemiology can provide us with valuable information to guide research directions. However, while epidemiology is useful for generating candidate risk factors, it can not always deliver studies that prove causality. We argue that the field needs more translational research that links schizophrenia epidemiology with molecular, cellular, and behavioral neuroscience. Cross-disciplinary projects related to candidate genetic or nongenetic risk factors not only can address the biological plausibility of these factors, but they can serve as catalysts for discovery in neuroscience. This type of cross disciplinary research is likely to be more efficient compared to clinically dislocated basic neuroscience. Examples of this type of translational research are provided based on (a) the impact of prenatal nutrition and prenatal infection on brain development and (b) understanding the causes and consequences of agenesis of the corpus callosum. We need to build shared discovery platforms that encourage greater cross-fertilization between schizophrenia epidemiology and basic neuroscience research.