Tay Sachs disease carrier testing in the UK Jewish population

Autor:	Hilary Burton, Sara Levene, Corinna Alberg
Rok vydání:	2010
Předmět:	medicine.medical_specialty education.field_of_study Pediatrics business.industry Judaism Tay-Sachs disease Population Carrier testing medicine.disease Genetic Condition Ashkenazi jews Family medicine Maternity and Midwifery medicine Carrier status Early childhood business education
Zdroj:	British Journal of Midwifery. 18:220-224
ISSN:	2052-4307 0969-4900
DOI:	10.12968/bjom.2010.18.4.47371
Popis:	Midwives have a key role in identifying women at risk of having a child with a serious genetic condition. Tay Sachs disease (TSD) is a degenerative neurological condition that causes death in early childhood. The mutations causing TSD, although rare, are ten times more common among Ashkenazi Jews. The birth of an affected child is avoidable through carrier testing of the parents and then prenatal testing of the fetus, if it is at risk. Screening for TSD carrier status has been approved by the National Screening Committee since 1999 and is available through NHS laboratories. Midwives, particularly those who work in areas with a significant Jewish population, need to be aware of the make up of their communities, be informed of the condition, who is at risk, what carrier testing services are available and how they can be accessed. Our survey suggests this is not currently the case.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::c8a629b9a637699fa6cd62cc77aab587 https://doi.org/10.12968/bjom.2010.18.4.47371 Zobrazit plný text záznamu