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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Harlequin ichthyosis


Other Names for this Disease
  • Harlequin fetus
  • HI
  • Ichthyosis congenita, Harlequin fetus type
  • Ichthyosis congenita, harlequin type
  • Ichthyosis fetalis, Harlequin type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Can Harlequin ichthyosis be diagnosed before birth? Specifically, can it be diagnosed by amniocentesis or chorionic villus sampling (CVS)?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Can harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling?

Yes, harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a specific genetic test should contact a health care provider or a genetics professional.  
Last updated: 2/6/2015
Other Names for this Disease
  • Harlequin fetus
  • HI
  • Ichthyosis congenita, Harlequin fetus type
  • Ichthyosis congenita, harlequin type
  • Ichthyosis fetalis, Harlequin type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.