SYNTHESIA DISORDER UPDATE
SYNTHESIA DISORDER SKIN

SYNTHESIA DISORDER UPDATE

Update on carrier screening for cystic fibrosis.

American College of Obstetricians and Gynecologists Committee on Genetics (2011).

Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

American College of Obstetricians and Gynecologists (2009).

Committee on Genetics, American College of Obstetricians and Gynecologists (2009).

If test results show that the person is a carrier of a genetic disease, then his or her partner also should be tested. If only one member of a couple has Ashkenazi Jewish heritage, that person is tested first.

Adults with a positive family history of a disease that is on the test panel.

Pregnant women (and their partners) who seek prenatal care, whether they have a history of genetic diseases or not.

Partners of people with diseases on the test panel.

A genetic counselor can help you make well-informed decisions.ДЄn AJGP may be recommended for people of Eastern European Jewish heritage, including:

Genetic counselors are trained to explain the test and its possible results clearly. You should have genetic counseling before making a decision about testing. Genetic test results often raise ethical, religious, or legal concerns. Anyone who is interested in knowing his or her carrier status can ask for the test, but a doctor must order it. The Ashkenazi Jewish genetic panel (AJGP) shows the chance of having a child with a disease that is more common among people of Eastern European Jewish heritage. Genetic tests can be done for anyone who wants to know whether he or she is a carrier of certain diseases. Testing for this condition may not always be done.ДЄbout 1 out of 4 people of Ashkenazi Jewish heritage is a carrier of one of these genetic conditions, most commonly of Gaucher disease, cystic fibrosis, Tay-Sachs disease, familial dysautonomia, or Canavan disease. People with this problem have ongoing spasms that twist the muscles in their arms, legs, and sometimes their body. This disease causes a type of fat called ganglioside to build up in the cells of the brain and nervous system. This disease causes a type of fat called sphingomyelin to build up in cells of the liver, spleen, lymph nodes, and bone marrow. This problem causes the nervous system to deteriorate, or break down, over time. This disease causes a type of fat called glucocerebroside to build up in certain cells of the liver, spleen, and bone marrow.

People with this problem do not have enough blood cells and have problems with the heart, kidneys, arms, or legs. People with this problem cannot feel pain, they sweat a lot, and they have trouble with speech and coordination. This disease causes very thick mucus in the lungs and problems with digesting food. This disease gradually destroys brain tissue.

SYNTHESIA DISORDER SKIN

Their skin may look red, and they have more lung and ear infections than children normally have. Babies with this disease are born small and remain shorter than normal as they grow. This testing is done usually if one or both parents are carriers of a genetic disease. Some of these diseases can be found during pregnancy through chorionic villus sampling (CVS) or amniocentesis. Even though most of these diseases are severe and can cause early death, some can be treated to reduce symptoms and prolong life. What Are Ashkenazi Jewish Genetic Diseases?ДЄshkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population.

Synthesia disorder