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
Related Documents :
24708799 - Documentation of delirium in the va electronic health record.
15503279 - Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study o...
8532619 - Prenatal diagnosis of trisomy 9. six cases and a review of the literature.
9401109 - Mosaicism in trisomy 8: phenotype differences according to tissular repartition of norm...
3441929 - Prenatal diagnosis of partial trisomy 22 derived from a maternal t(11; 22) (q23; q11).
14629309 - Placental mesenchymal dysplasia initially diagnosed as partial mole.
10403739 - Polymerase chain reaction based human leucocyte antigen genotyping for the investigatio...
22942999 - Characteristics of headache at altitude among trekkers; a comparison between acute moun...
22183459 - Early diagnosis of relapse in borderline leprosy: two case reports.
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosome Aberrations*
Cohort Studies
Critical Care
Fetal Blood*
Infant, Newborn
Karyotyping / methods*
Prospective Studies

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

Previous Document:  Validation of radiographic criteria for the diagnosis of Down syndrome in stillborn infants.
Next Document:  Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynost...