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Inherited Disorders and Birth Defects

Chromosome 18 syndrome

10/01/2008

Question:

Is it possible to be misdiagnosed with chromosome 18?

Answer:

You do not say how the diagnosis was made.

If there is an abnormality with chromosome 18, that is usually found by doing a chromosome analysis on blood, other tissues in the body or on amniotic fluid if a pregnancy is being evaluated.

While no test is absolutely 100% correct - the accuracy of a chromosome analysis is close to 100%. The chromosomes of the person being evaluated are examined under specialized microscopes and a picture is made of the chromosomes (called a karyotype). Laboratories that specialize in doing chromosome analysis are very careful to put in checks along the way so that the chance of misdiagnosing a chromosome problem is extremely low.

If the diagnosis was made by looking at the clinical features of the person with abnormalities, then there could be the potential of a misdiagnosis. However, when doctors suspect that the problems they see are due to a chromosome analysis, they should always order a chromosome analysis to confirm their diagnosis.

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Response by:

Anne Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University