Document Detail

Direct karyotyping of unstimulated newborn blood: a rapid diagnostic method for the clinical management of critically ill newborns.
MedLine Citation:
PMID:  9332669     Owner:  NLM     Status:  MEDLINE    
Using spontaneously dividing nucleated erythrocytes present in newborn cord and peripheral blood, we performed direct karyotype analysis on a cohort of 162 infants suspected of chromosome abnormalities. A cytogenetic diagnosis was obtained in 149 cases (91.9%). In all cases conventional phytohaemagglutinin- (PHA)-stimulated cultures were used for comparison. Concordance between direct and stimulated karyotypes was seen in all but 5 cases. In these 5 cases, abnormalities were seen in the direct harvest while PHA-stimulated cultures showed normal results. Skin fibroblasts from 2 of these cases, available for follow-up, showed the abnormalities in a mosaic state. Our experience confirms that direct karyotyping of fetal and newborn blood is feasible, fast, and efficient and can provide accurate diagnosis of major chromosome abnormalities within 18-24 hours after obtaining the blood.
S A Tharapel; V G Dev
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  72     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Oct 
Date Detail:
Created Date:  1997-11-25     Completed Date:  1997-11-25     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  351-3     Citation Subset:  IM    
Department of Pediatrics, University of Tennessee, Memphis 38163, USA.
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MeSH Terms
Chromosome Aberrations*
Cohort Studies
Critical Care
Fetal Blood*
Infant, Newborn
Karyotyping / methods*
Prospective Studies

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