Down syndrome laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dildar Hussain, MBBS [2]

Overview

Laboratory Findings

  • The following lab tests are done for the patients of Down syndrome to rule out conditions associated with down syndrome:[1][2]
    • CBC with differentials to rule out Leukemia
    • To rule out hypothyroid, the following tests are performed at birth, 6 months, 1 year and then annually:
      • TSH
      • T4
    • Cytogenetic studies
      • Cytogenetic studies are performed for the confirmation of down syndrome
      • Karyotyping must be performed to determine the risk of recurrence
    • Measurement of Immunoglobulin G
      • Subsequent low level of IgG subclass 4 are correlated with bacterial infections
    • The Mosaic trisomy 21 that includes:
      • Lymphocyte preparations
      • FISH
      • Buccal mucosa cellular preparations
      • Scoring frequency of trisomic cells
    • Interphase fluorescence in situ hybridization (FISH)
      • Interphase fluorescence in situ hybridization is used for early and rapid detection of trisomy 21
      • The FISH test is beneficial in the diagnosis of Down syndrome in prenatal and neonatal period
      • The FISH test needs to be confirmed by a complete karyotype analysis as it does not provide information about the trisomy 21 to weather if it is secondary to a translocation

References

  1. Ringman JM, Rao N, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia. A case report and brief literature review. Arch Neurol. 2008. 65:412-415.
  2. Papavassiliou, Paulie; York, Timothy P.; Gursoy, Nurcan; Hill, Gloria; Nicely, Lauren Vanner; Sundaram, Usha; McClain, Allison; Aggen, Steven H.; Eaves, Lindon; Riley, Brien; Jackson-Cook, Colleen (2009). "The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues". American Journal of Medical Genetics Part A. 149A (4): 573–583. doi:10.1002/ajmg.a.32729. ISSN 1552-4825.

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