Comparison of different blood sample processing methods for sensitive detection of low level chimerism by<i>RHD</i>real-time PCR assay

Javadi, Ahmad; Verduin, Esther P.; Brand, Anneke; Schonewille, Henk

doi:10.4161/chim.24248

Cited by 1 publication

(2 citation statements)

References 28 publications

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“…Quantitative polymerase chain reaction is a simple and rapid test for chimera. 21 A combination or additive effect of these tests can allow even low-level chimerism, as presents here, to be detected. 21 Trisomy 9 can also be detected on amniocentesis, but different mosaicisms may show up with each test because of different numbers of mosaic cells in the sample giving an unrealistic picture of the degree of mosaicism.…”

Section: Diagnosismentioning

confidence: 64%

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Mosaic Trisomy 9 Hematopoietic Chimera

DeLoache

Bradshaw

2014

Advances in Neonatal Care

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A 1.57-kg infant presented at a major medical center in the southeastern United States at 32 weeks of gestation with growth restriction and no major anomalies after an uncomplicated pregnancy. At 1 month of life, the infant was found to be chimeric for blood types O and A. Genetic testing revealed mosaic trisomy 9 as the cause for the 2 distinct blood types. Without phenotypic presentation of trisomy 9, the infant's genetic diagnosis was not detected until an issue arose. Genetic diagnosis and treatment and future considerations are discussed in this article. Full-text English articles from CINAHL and PubMed were analyzed for assistance in understanding the infant's condition. Book chapters, review articles, and meta-analyses were also reviewed. Implications of this case study indicate that phenotypically normal presenting infants may still have underlying issues that should be investigated genetically when they arise. This article cannot be generalized to the population because of its specific situation, but the underlying concept can be applied to any case.

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Section: Diagnosismentioning

confidence: 64%

“…21 Trisomy 9 can also be detected on amniocentesis, but different mosaicisms may show up with each test because of different numbers of mosaic cells in the sample giving an unrealistic picture of the degree of mosaicism. Quantitative polymerase chain reaction is a simple and rapid test for chimera.…”

Section: Diagnosismentioning

confidence: 99%

Mosaic Trisomy 9 Hematopoietic Chimera

DeLoache

Bradshaw

2014

Advances in Neonatal Care

View full text Add to dashboard Cite

show abstract

Comparison of different blood sample processing methods for sensitive detection of low level chimerism byRHDreal-time PCR assay

Cited by 1 publication

References 28 publications

Mosaic Trisomy 9 Hematopoietic Chimera

Mosaic Trisomy 9 Hematopoietic Chimera

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