Prenatal panel screening considerations for non-neuronopathic Gaucher disease in the Ashkenazi-Jewish population

Ruth Kannai, Ilana R. Chertok

Research output: Contribution to journalReview articlepeer-review

11 Scopus citations

Abstract

The Ashkenazi-Jewish population is at increased risk for several recessively inherited disorders. While some of the disorders have severe or fatal symptom manifestations, others, such as non-neuronopathic Gaucher disease, do not usually pose a serious, life-threatening illness. Many healthcare centers in Israel offer prenatal panel screening. Controversy exists over the inclusion of Gaucher disease in the panel screening, especially since Gaucher disease screening lacks prognostic reliability. Most screening participants do not discriminate between the specific tests in the panel and are unable to discern between severe, life-threatening diseases and those that are less severe and even treatable. By including screening for Gaucher in the panel screening program, there is risk of a "panel effect" leading to termination of a pregnancy positive for Gaucher disease, without sufficient knowledge and understanding of the disease. Increasing medical and public awareness and knowledge of the disease, its prognosis and treatment options may reduce the rate of under-informed abortions associated with prenatal screening for Gaucher disease.

Original languageEnglish
Pages (from-to)347-350
Number of pages4
JournalIsrael Medical Association Journal
Volume8
Issue number5
StatePublished - 1 May 2006
Externally publishedYes

Keywords

  • Non-neuronopathic Gaucher disease
  • Panel multi-test kit
  • Prenatal screening

Fingerprint

Dive into the research topics of 'Prenatal panel screening considerations for non-neuronopathic Gaucher disease in the Ashkenazi-Jewish population'. Together they form a unique fingerprint.

Cite this