Document Detail

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
MedLine Citation:
PMID:  8487268     Owner:  NLM     Status:  MEDLINE    
Ultrasonography is a non-invasive method for prenatal detection of diastrophic dysplasia (DTD) in the second trimester of pregnancy. As there is a need for genetic counselling as early as possible we wished to develop a method based on molecular analysis. Five fetuses in families with a previous history of DTD were studied by typing them and their relevant family members for DNA markers closely linked to the DTD gene. The DNA analyses predicted that three of the fetuses were unaffected and two affected. These results were concordant with those obtained by ultrasonography, and the phenotype of the fetus was correctly predicted in all cases. DNA analysis provides a reliable means of prenatal diagnosis in the first trimester of pregnancy.
J Hästbacka; R Salonen; P Laurila; A de la Chapelle; I Kaitila
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  30     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1993 Apr 
Date Detail:
Created Date:  1993-06-10     Completed Date:  1993-06-10     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  265-8     Citation Subset:  IM    
Department of Medical Genetics, University of Helsinki, Finland.
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MeSH Terms
Base Sequence
DNA / genetics*
DNA Probes
Exostoses, Multiple Hereditary / diagnosis*,  genetics*
Genetic Markers
Linkage (Genetics)
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic
Pregnancy Trimester, First
Prenatal Diagnosis*
Reg. No./Substance:
0/DNA Probes; 0/Genetic Markers; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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