Document Detail

Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.
MedLine Citation:
PMID:  6310398     Owner:  NLM     Status:  MEDLINE    
To investigate the usefulness of chorionic biopsy for prenatal diagnosis of sickle-cell anemia by restriction-endonuclease analysis of fetal DNA, we studied 30 pregnancies before elective abortion. When the reproducibility of the technique for obtaining adequate DNA samples was established, we successfully applied the test to five pregnancies at risk for sickle-cell anemia. In two cases, sickle-cell disease of the fetus led to a decision to terminate the pregnancy. In three other cases, a normal or AS genotype was demonstrated. One normal infant has been born, and one other pregnancy is continuing normally. In one case in which fetal death was observed three weeks after sampling, placental abnormalities found on histologic examination were compatible with a chromosomal aberration. Our study shows that chorionic biopsy is feasible for the prenatal diagnosis of sickle-cell disease before the 10th gestational week. If subsequent experience demonstrates this technique to be safe enough for mother and fetus, the ability to test in early pregnancy may make prenatal diagnosis acceptable to more couples at risk for serious genetic disorders.
M Goossens; Y Dumez; L Kaplan; M Lupker; C Chabret; R Henrion; J Rosa
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The New England journal of medicine     Volume:  309     ISSN:  0028-4793     ISO Abbreviation:  N. Engl. J. Med.     Publication Date:  1983 Oct 
Date Detail:
Created Date:  1983-10-21     Completed Date:  1983-10-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0255562     Medline TA:  N Engl J Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  831-3     Citation Subset:  AIM; IM    
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MeSH Terms
Abortion, Therapeutic
Anemia, Sickle Cell / diagnosis*
Biopsy / methods*
DNA / analysis*
DNA Restriction Enzymes / diagnostic use
Gestational Age
Prenatal Diagnosis / methods*
Trophoblasts / analysis
Reg. No./Substance:
9007-49-2/DNA; EC 3.1.21.-/DNA Restriction Enzymes

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

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