Linked Life Data

6118588

Source:http://linkedlifedata.com/resource/pubmed/id/6118588

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8256
pubmed:dateCreated
1982-2-12
pubmed:abstractText
An international registry of prenatal tests for haemoglobinopathies has been kept since July, 1974. Up to March, 1981, 1856 tests had been done with fetal blood and 70 with amniotic fibroblast DNA in 21 centres. Of the tests on fetal blood 92% were for the diagnosis of thalassaemia and 8% for that of sickle disorders. Blood was sampled via fetoscopy in 67% of cases and by placental aspiration in 33%. Adequate samples were obtained in 97% of cases. With fetoscopy the proportion of red cells obtained that were of fetal origin was 92%, and with aspiration it was 57%. In the most recent year of the registry the fetal loss rate was 3.9% (of 725 cases); and the rate was 5.6% overall (5.2% by fetoscopy and 6.5% by aspiration). Affected fetuses were detected in 23% of cases at risk for thalassaemia, and in 15% at risk for sickle disorders. The error rate was 0.9% and consisted mostly of false negatives. Fibroblast DNA analyses were used to assess the risk of sickle disorders in 61 (87%) of the 70 cases studied. 24% were affected. 26% had exclusion diagnoses only. The use of prenatal tests, together with genetic screening and counselling, has considerably reduced the rate at which new homozygous thalassaemics are born in several regions of the world.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
21
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1152-5
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Prenatal diagnosis of haemoglobinopathies: A status report.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't