Abstract：
:Prenatal diagnoses of the genetic disorders alpha, beta thalassemia, HbS, Hb Lepore, hemophilia and cystic fibrosis were sought in 88 cases. Six unsuccessful attempts at diagnosis resulted from DNA polymorphisms which were only 50% informative (four cases) and prenatal diagnoses which had been undertaken before it was known whether DNA polymorphisms in family studies were informative (two cases). The most frequent indications for prenatal diagnosis were the hemoglobinopathies although requests for exclusion of cystic fibrosis formed the majority during 1989. Strong linkage disequilibrium between the cystic fibrosis defect and its associated DNA polymorphisms facilitated detection of this disorder. Late presentations among patients with beta thalassemia and hemophilia and the necessity for more specialised genetic counselling were the commonest problems encountered.
journal_name
Pathologyjournal_title
Pathologyauthors
Trent RJ,Volpato F,Wallace RC,Lindeman R,Yakas Jdoi
10.3109/00313029009063558subject
Has Abstractpub_date
1990-07-01 00:00:00pages
165-8issue
3eissn
0031-3025issn
1465-3931journal_volume
22pub_type
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