Pregnancy hazards and the child's charter.

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Pregnancy hazards and the child's charter.

Publication Date
Nov 10, 1979
Source
PMC
Keywords
Disciplines
  • Biology
  • Medicine
License
Unknown

Abstract

For more information about the Organization of Teratology Information Specialists For more information about the Organization of Teratology Information Specialists or to find a service in your area, call (866) 626-6847 or visit us online at: www.OTISpregnancy.org. Gaucher Disease in Pregnancy This sheet talks about Gaucher disease in pregnancy. With each pregnancy, all women have a 3% to 5% chance of having a baby with a birth defect. This information should not take the place of medical care and advice from your health care provider. What is Gaucher disease? Gaucher disease is a genetic disorder. People with Gaucher disease have a deficiency of the enzyme called glucocerebrosidase. This enzyme helps break down fatty substances in the body. When the enzyme is deficient, fatty substances build up in the liver, spleen, lungs, bone marrow, and less commonly, in the brain. The build-up of this fatty material causes many of the body’s organs to enlarge and not work properly. Common symptoms include thinning of the bone (osteopenia), bone pain and fractures, enlarged liver (hepatomegaly) and/or spleen (splenomegaly), decreased red blood cells (anemia), fatigue, decreased number of blood platelets (thrombocytopenia), and easy bruising. There are three major types of Gaucher disease. Type I is the most common form and includes all of the symptoms described above. Type II includes all of the symptoms of Type I but also central nervous system changes including learning problems, dementia, and seizures. Type III has the same symptoms as Type II, but progresses more slowly than Type II. Gaucher disease occurs in approximately 1 in 50,000 individuals. Type I does occur more often in individuals of Ashkenazi Jewish ethnicity. It is expected to be seen in 1 in 400 to 1 in 600 individuals of Ashkenazi Jewish descent. Can Gaucher disease affect fertility? Most women with Gauche

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