Direct karyotyping of unstimulated newborn blood: A rapid diagnostic method for the clinical management of critically ill newborns
✍ Scribed by Tharapel, Sugandhi A.; Dev, Vaithilingam G.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 15 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.