Linked Life Data

9249871

Source:http://linkedlifedata.com/resource/pubmed/id/9249871

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1997-9-19
pubmed:abstractText
We reviewed all referrals for prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies performed at the Montreal Children's Hospital Prenatal Diagnosis Centre/McGill University during the period 1990-1995; 92 procedures were performed for these indications (less than 1 per cent of all referrals for prenatal diagnosis). All prenatal diagnoses for haemoglobinopathies (n = 55) were exclusively DNA-based. The three most frequent referrals were for beta-thalassaemia, sickle cell anaemia, and Tay-Sachs disease, accounting for 68 per cent of cases; the other indications were predominantly for untreatable inborn errors of metabolism. Our unit maintains population-based carrier screening programmes in high schools for beta-thalassaemia and Tay-Sachs diseases. Carriers detected in these programmes accounted for the majority of referrals for these two conditions. This study indicates that carrier testing and screening for sickle cell anaemia may be also welcomed by at-risk groups in Quebec.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0197-3851
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
681-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience.
pubmed:affiliation
Montreal Children's Hospital/McGill University, Quebec, Canada.
pubmed:publicationType
Journal Article