Your Pregnancy After 35 : Tests for You and Your Baby (part 8) - Cystic Fibrosis Screening Tests, Jewish Genetic Disorders

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Cystic Fibrosis Screening Tests

Cystic fibrosis (CF) is a genetic disorder that causes digestive and breathing problems. It causes the body to produce sticky mucus that builds up in the lungs, pancreas and other organs, which can lead to respiratory and digestive problems. Those with the disorder are usually diagnosed early in life.

We are now able to determine whether there is a risk of having a baby with CF. You and your partner can be tested before pregnancy to determine if either of you are carriers. A test can also be done in the first and/or second trimester of pregnancy to see if the baby has cystic fibrosis.

For your baby to have cystic fibrosis, both parents must be carriers. If only one parent is a carrier, the baby will not have CF. A carrier does not have CF. You could be a carrier even if no one in your family has CF. You could also be a carrier if you already have children and they do not have CF. Your chance of carrying the gene for cystic fibrosis increases if someone in your family has CF or is a known carrier.

Screening for cystic fibrosis is often part of genetic counseling. One test available is called Cystic Fibrosis (CF) Complete Test. It can identify more than 1000 mutations of the CF gene. A panel that screens for 23 CF mutations is the recommended test.

If you and your partner are Caucasian, the American College of Obstetricians and Gynecologist (ACOG) recommends CF screening. Cystic fibrosis is the most common birth defect in this group. Screening is also recommended for those at higher risk for CF, such as Ashkenazi Jews. The screening test uses a blood sample or a saliva sample.

If both you and your partner carry the CF gene, your baby has a 25% chance of having cystic fibrosis. Your developing baby can be tested for CF during your pregnancy with chorionic villus sampling around week 10 or 11 of pregnancy. Amniocentesis may also be used to test the baby.

Some CF gene mutations cannot be detected by the current test; you could be told you don’t carry the gene when in fact you do. The test cannot detect all CF mutations because researchers don’t know all of them at this time. However, unknown CF gene mutations are rare.

If you believe cystic fibrosis is a serious concern or if you have a family history of the disease, talk to your healthcare provider. Testing is a personal decision you and your partner must make.

Many couples choose not to have the test because it would not change what they would do during the pregnancy. In addition, they do not want to expose the mother-to-be or the developing fetus to the risks of CVS or amniocentesis. However, testing is recommended so care can be provided to baby immediately after birth if he or she has CF.

Jewish Genetic Disorders

A group of medical conditions considered genetic disorders occur more commonly among Ashkenazi Jews, who are of eastern European descent. About 95% of the Jewish population in North America is of Ashkenazi heritage. Some of the diseases found in this group also affect Sephardi Jews and non-Jews; however, the conditions are more common among Ashkenazi Jews—sometimes 20 to 100 times more common.

Much research has been done to determine why these disorders occur more frequently in the Ashkenazi Jewish population. Researchers believe two processes are at work—the founder effect and genetic drift.

With the founder effect, genes that cause certain problems just happened to occur among the founders of the Ashkenazi Jews. They emigrated to eastern Europe around 70 A.D. Before they left Palestine, these disorders were probably as common among all other groups in the area. When the Ashkenazi Jews settled together in Europe, they carried these genes.

Because Ashkenazi Jews do not often marry outside their faith or community, the genes were not spread among other communities. This is called genetic drift. The presence of the genes was not decreased by introducing genes from outside the community, so many of the problems remained within this group.

Some diseases and conditions occur within other Jewish groups, such as Sephardi Jews. Sephardi Jews are of Spanish or Portuguese descent, and particular disorders occur within this group, probably for the same reasons they occur among Ashkenazi Jews.

Various conditions are considered “Jewish genetic disorders.” However, we know people of other ethnic backgrounds can inherit some of these diseases. Some diseases and conditions are not usually found outside the various Jewish populations and are rare in the general population. These disorders include:

Tay-Sachs disease

Bloom syndrome

factor-XI deficiency

familial dysautonomia (Riley-Day syndrome)

Fanconi anemia (Group C)

Gaucher disease

glucose-6 phosphate dehydrogenase deficiency (G6PD)

glycogen storage disease, type III

mucolipidosis IV

Niemann-Pick disease (Type A)

nonclassical adrenal hyperplasia

nonsyndromic hearing loss

torsion dystonia

Screening tests are available for some of the diseases listed above. One test targets 11 genetic diseases and is designed for couples in which one or both members are of Ashkenazi or Sephardi Jewish descent. Many diseases can be identified before pregnancy or in early pregnancy. Discuss testing with your healthcare provider if you’re interested.

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