Journal of Community Genetics

, Volume 3, Issue 3, pp 193–203

Carrier screening in preconception consultation in primary care


DOI: 10.1007/s12687-011-0071-z

Cite this article as:
Metcalfe, S.A. J Community Genet (2012) 3: 193. doi:10.1007/s12687-011-0071-z


Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay–Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.


Carrier screeningPreconceptionPregnancyCystic fibrosisHaemoglobinopathiesFragile X syndromeTay–Sachs diseaseSpinal muscular atrophy

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  1. 1.Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, Faculty of Medicine, Dentistry and Health SciencesThe University of MelbourneParkvilleAustralia