Prenatal screening for genetic diseases in the Ashkenazi Jewish Population

Our office offers an optional screening test that will assess your carrier status for diseases that are more common in the Ashkenazi Jewish population. This is done with a blood test, and is optional and confidential. By testing one partner for these conditions, we can determine if a couple is at increased risk of giving birth to a child with a particular disease. We can offer testing of both partners if needed, as well as offer a referral to a genetic counseling specialist for further discussion and diagnostic testing options. We can test your carrier status for individual diseases, or as a panel for the following conditions:

Panel 1

Tay-Sachs Disease is a severe condition which affects the brain and motor development of newborns. By six months of age, infants are generally very weak. They develop seizures, blindness, and usually die from pneumonia between two and five years of life. Approximately 1 of every 25 -30 Ashkenazi Jewish persons carries the abnormal gene.

Canavan Disease is a severe disease which affects the brain and motor development of newborns. Children with this condition are unable to sit, walk or talk. Most children die within the first year of life. Approximately 1 of every 40 Ashkenazi Jewish individuals is a carrier of this disease.

Cystic Fibrosis is a life-long illness which can cause problems with digestion and breathing. It is usually diagnosed in the first few years of life. The severity of the symptoms varies from one affected individual to the next. In general, most people have a shortened life span; some die in childhood, others may live into their 40’s and beyond. There is no cure for this disease. In Ashkenazi Jews, the likelihood of carrying the abnormal gene is 1 of every 20-30 persons.

Familial Dysautonomia, also known as Riley-Day syndrome, is a disease in which infants have problems with feeding and breathing. Those affected have difficulty with sensation of pain and temperature, they can have severe
problems with nausea and vomiting, rapid changes in blood pressure, and they often lack tears. Intelligence is usually normal. Approximately 1 of every 30 Ashkenazi Jewish persons is a carrier of this gene.

Panel 2

Mucolipidosis IV is a disease which causes growth and development delays. Most individuals are diagnosed by age two or three, and they do not develop language or motor skills beyond those of a one or two year old. They can also have problems with vision. Patients with this disease can have a normal life span. The likelihood of carrying this mutation is approximately 1 of every 100 Ashkenazi Jews.

Niemann Pick disease type A is another severe condition that can lead to problems feeding and poor motor skills in the first few months of life. Infants appear limp and have loss of brain function. This often leads to death by two to three years of life. Approximately 1 of every 90 persons of Ashkenazi Jewish descent carries the abnormal gene.

Fanconi anemia group C is a disease which affects many parts of the body. Individuals with this disease can have birth defects of the hands, problems with formation of the kidneys, heart, intestines or brain. These patients are more likely to have problems with cancer or leukemia in later years. The average survival is between 16 and 23 years. These patients can be treated with stem cell transplants, but still may develop cancers. Approximately 1 of every 90 Ashkenazi Jews is a carrier.

Bloom syndrome is a condition which can predispose a patient to the development of cancer. These patients may have limited growth, facial deformities, they may have more infections and may have limited intelligence. The average age of death is 28 years. Approximately 1 of every 100 Ashkenazi persons carries the gene.

Gaucher disease is very common, but many cases are mild or even have no symptoms. Some individuals have bone pain or fractures. Fifty percent of patients have no symptoms until after 45 years of age. One of every 15 Ashkenazi Jews carries this gene.

The currently available tests screen for the most common DNA mutations for that disease. A negative screening test result for one or both partners significantly reduces the possibility of an affected child, but does not entirely exclude it.

The American College of Obstetrics and Gynecology (ACOG) recommends that all Ashkenazi Jews should be offered screening for those diseases in Panel 1. The American College of Medical Genetics (ACMG) recommends additional
screening for those diseases in Panel 2. ACOG suggests that only patients with an affected family member should be offered screening for those diseases in Panel 2. Both panels may be performed for any patient who specifically requests
them.

If you feel that you may want to be tested or want to know more information about the tests, please tell your health care provider that you are interested in learning more about the testing. You may also want to check to make certain that the cost of this genetic screening is covered by your insurance company, and specifically, which conditions are covered.