Down syndrome laboratory findings: Difference between revisions

Jump to navigation Jump to search
No edit summary
 
(6 intermediate revisions by one other user not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Down syndrome}}
{{Down syndrome}}
{{CMG}}
{{CMG}}; {{AE}} {{SH}}
 
==Overview==
==Overview==


A doctor can often make an initial diagnosis of Down syndrome at birth based on how the baby looks. The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.
Down syndrome is confirmed through [[Cytogenetics|cytogenetic studies]] which confirm trisomy 21. In addition [[complete blood count]] with differentials is performed to rule out [[leukemia]], [[Thyroid-stimulating hormone|TSH]] and [[T4]] are performed at birth, 6 months, 1 year and then annually to rule out [[hypothyroidism]]. Low level of [[Immunoglobulin G|IgG]] subclass 4 are correlated with bacterial infections. The mosaic trisomy 21 includes [[lymphocyte]] preparations, [[Fluorescence in situ hybridization|FISH]], [[buccal mucosa]] cellular preparations and scoring frequency of trisomic cells.
 
==Laboratory Findings==
[[Karyotyping]] can be done to check for the extra chromosome and confirm the diagnosis.
*The following lab tests are done for the patients of Down syndrome to rule out conditions associated with down syndrome:<ref>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.</ref><ref name="PapavassiliouYork2009">{{cite journal|last1=Papavassiliou|first1=Paulie|last2=York|first2=Timothy P.|last3=Gursoy|first3=Nurcan|last4=Hill|first4=Gloria|last5=Nicely|first5=Lauren Vanner|last6=Sundaram|first6=Usha|last7=McClain|first7=Allison|last8=Aggen|first8=Steven H.|last9=Eaves|first9=Lindon|last10=Riley|first10=Brien|last11=Jackson-Cook|first11=Colleen|title=The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues|journal=American Journal of Medical Genetics Part A|volume=149A|issue=4|year=2009|pages=573–583|issn=15524825|doi=10.1002/ajmg.a.32729}}</ref>
**[[CBC]] with differentials to rule out [[Leukemia]]
**To rule out [[Hypothyroidism|hypothyroid]], the following tests are performed at birth, 6 months, 1 year and then annually:
***[[TSH]]
***[[T4]]
**[[Cytogenetic analysis|Cytogenetic studies]]
***[[Cytogenetic analysis|Cytogenetic studies]] are performed for the confirmation of down syndrome
***[[Karyotype|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 [[Mosaicism|Mosaic]] trisomy 21 that includes:
***[[Lymphocyte]] preparations
***[[Fluorescence in situ hybridization|FISH]]
***[[Buccal mucosa]] cellular preparations
***Scoring frequency of trisomic cells
**[[Fluorescence in situ hybridization|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==
==References==
{{reflist|2}}
{{Reflist|2}}


{{WH}}
{{WH}}
{{WS}}
{{WS}}

Latest revision as of 05:58, 21 March 2018

Down syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Down syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Sociological and Cultural Aspects

Case Studies

Case #1

Down syndrome laboratory findings On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Down syndrome laboratory findings

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Down syndrome laboratory findings

CDC on Down syndrome laboratory findings

Down syndrome laboratory findings in the news

Blogs on Down syndrome laboratory findings

Directions to Hospitals Treating Down syndrome

Risk calculators and risk factors for Down syndrome laboratory findings

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

Overview

Down syndrome is confirmed through cytogenetic studies which confirm trisomy 21. In addition complete blood count with differentials is performed to rule out leukemia, TSH and T4 are performed at birth, 6 months, 1 year and then annually to rule out hypothyroidism. Low level of IgG subclass 4 are correlated with bacterial infections. The mosaic trisomy 21 includes lymphocyte preparations, FISH, buccal mucosa cellular preparations and scoring frequency of trisomic cells.

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:
    • Cytogenetic studies
    • Measurement of Immunoglobulin G
      • Subsequent low level of IgG subclass 4 are correlated with bacterial infections
    • The Mosaic trisomy 21 that includes:
    • 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.

Template:WH Template:WS