PRENATAL SCREENING FOR HEMOGLOBIN DISORDERS

Authors
Citation
M. Petrou et B. Modell, PRENATAL SCREENING FOR HEMOGLOBIN DISORDERS, Prenatal diagnosis, 15(13), 1995, pp. 1275-1295
Citations number
60
Categorie Soggetti
Obsetric & Gynecology
Journal title
ISSN journal
01973851
Volume
15
Issue
13
Year of publication
1995
Pages
1275 - 1295
Database
ISI
SICI code
0197-3851(1995)15:13<1275:PSFHD>2.0.ZU;2-R
Abstract
The technology has been available to detect carriers of haemoglobin di sorders since the late 1960s. Prenatal diagnosis has been available si nce 1978. First trimester diagnosis by chorionic villus sampling and D NA analysis was introduced in 1982, and subsequent simplifications in DNA technology have made screening, counselling and prenatal diagnosis cost-effective at the community level, in countries at all levels of development. Audit of prenatal diagnosis for haemoglobin disorders in countries which have the resources and infrastructure necessary for ge netic population screening (such as the UK and other European countrie s), has shown that the number of prenatal diagnoses actually performed fall far shea of expectation. The demonstration that this reflects fa ilures in delivering information, screening and counselling to the pop ulations at risk, rather than rejection of prenatal diagnosis, shows t he importance of placing more emphasis on the organisational and socia l requirements for genetic population screening. In some countries cur rent attitudes towards abortion exclude provision of prenatal diagnosi s within the health service, but in many such cases it has been set up in the private sector. It is also being introduced through combined p rivate and charitable efforts in an increasing number of developing co untries, including some with extremely limited health resources: such centres are likely to act as nuclei for emergence of genetics services in these communities. A particularly notable recent achievement is th e introduction of prenatal diagnosis in Nigeria, where 1-2% of all chi ldren born suffer from sickling disorders.