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FISH, Prenatal Screen

Test code(s) 14604X

Question 1. What chromosome abnormalities does this assay detect?

This assay detects numerical abnormalities of chromosomes 13, 18, 21, X, and Y (eg, trisomy 13, trisomy 18, trisomy 21 [Down syndrome], sex chromosome abnormalities such as Turner syndrome and Klinefelter syndrome, and triploidy).

Question 2. What disorders cannot be detected by this assay?

  1. Aneuploidy of chromosomes other than 13, 18, 21, X, and Y
  2. Structural chromosome abnormalities
  3. Low-level mosaicism

Question 3. My patient's FISH, Prenatal Screen result is abnormal, but the report indicates that medical decisions should not be based solely on the FISH results. Why? Have discordant results ever been reported?

While FISH results have been reported to be concordant with traditional chromosome analysis results in the vast majority of cases, there have been a few instances of discrepant results. The American College of Medical Genetics recommends that irreversible therapeutic action should not be taken based on the results of FISH analysis alone (Am J Hum Genet. 1993;53:526-527).

This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.
Document FAQS.59 Version: 0
Effective 05/30/2012 to present