| Direct karyotyping of unstimulated newborn blood: a rapid diagnostic method for the clinical management of critically ill newborns. | |
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MedLine Citation:
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PMID: 9332669 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S A Tharapel; V G Dev |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 72 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1997 Oct |
Date Detail:
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Created Date: 1997-11-25 Completed Date: 1997-11-25 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 351-3 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Tennessee, Memphis 38163, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Aberrations* Cohort Studies Critical Care Fetal Blood* Humans Infant, Newborn Karyotyping / methods* Metaphase Prospective Studies |
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