Title | Genetic resources for the neonatologist. |
Author(s) | Kaufman L, Herbert M. |
Source | Semin Fetal Neonatal Med., Vol. 10, No. 3, Pages 291-298 |
Publication Date | Jun-05 |
Abstract | 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. |