RESUMEN
Information generated by work on the human genome means that we now understand the genetic basis of many of the cardiac anomalies that present in the fetal and neonatal periods. This allows for an earlier and more definitive diagnosis of an underlying syndrome, although it does not replace the need for an accurate recognition of clinical signs. The implications of this new information are considered in the context of some of the more frequently encountered conditions with cardiac associations.
Asunto(s)
Cardiopatías Congénitas/genética , Anomalías Congénitas/genética , Enfermedades Genéticas Congénitas/genética , Humanos , Recién NacidoRESUMEN
Diagnosing genetic disorders and counselling the parents of babies with possible genetic conditions takes up a significant proportion of a neonatologist's clinical time. This article provides a guide to establishing genetic tools and a reference library on a neonatal unit. The availability of good resources may heighten staff awareness of genetic aetiologies in babies with subtle features, and enable possible diagnoses to be considered and a genetics consultation sought. In addition, when a diagnosis is made, information is then readily available to guide the neonatologist in his or her consultations with parents. It is not intended that the tools outlined here should be a replacement for the genetics consultation; their role is merely to facilitate the interaction of neonatologists with geneticists, to the benefit of the parents and the baby.