Genetic resources for the neonatologist.
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.
Kaufman
Louise
L
Department of Clinical Genetics, Churchill Hospital, Headington, Oxford OX3 7JL, UK. louise.kaufman@orh.nhs.uk
Herbert
Mark
M
D030541:Databases, Genetic; D005823:Genetics; D006801:Humans; D020407:Internet; D009359:Neonatology; D012013:Reference Books