Preconception Carrier Screening for Cystic Fibrosis

Having a strong, healthy child is important to any couple wishing to start a family. By getting preconception carrier screening, couples can prevent the risk of passing on genetic diseases to their unborn child.

Cystic fibrosis is a common genetic disorder found mostly in the Caucasian population. One carrier can be found in every 25 people. Most carriers display no symptoms. Therefore, it is vital that couples learn more about the disease and take the necessary steps toward screening and prevention.

Cystic fibrosis is a genetic disorder which causes poor elimination of phlegm in the lungs, leading to respiratory failure and chronic lung diseases, from a young age. The condition affects 1 in 2,500 people, mostly those of the non-hispanic white population.

Other symptoms of cystic fibrosis include:

• Abdominal pain
• Coughing
• Loose stools
• Wheezing
• Chronic inflammation of the pancreas
• Infertility in male patients
• Inability to thrive and develop during infancy and childhood

Cystic fibrosis does not affect the patient’s intelligence. The patient’s life and condition can be sustained through medication, lung therapy and proper nutrition. Most patients pass away with respiratory failure and chronic lung infections at around 20-30 years of age.

Most carriers of cystic fibrosis are silent carriers; they do not display any unusual symptoms and have no family history of cystic fibrosis. However, when both the patient and the partner are carriers, there is a one in four chance of their child having the disorder. Therefore, cystic fibrosis carrier testing is highly recommended, especially for caucasian couples. Getting tested before pregnancy or during early pregnancy can help couples make informed choices going forward.

The carrier test requires only a tiny sample of blood from the patient. The test result is returned within two weeks. You can ask for the carrier test from your OB/GYN. If you have further questions, you might want to meet and consult with genetic counselors or geneticists at the hospital.

If the test reveals that you or your partner are carriers for cystic fibrosis, discuss with your doctor how to proceed. Being a carrier does not necessarily mean an end to your dream of having children. Here are the options your doctor might present you with:

• Start normal conception and take the risk. At four months of pregnancy, a prenatal diagnosis will be done. A needle will be used to pick up fluids around the infant. If the baby is affected by cystic fibrosis, parents can choose to terminate the pregnancy or they can choose to proceed with it.
• Preimplantation genetic diagnosis (PGD) is for couples who do not want to risk normal conception. The PGD process can be applied during in vitro fertilization (IVF). It identifies gene mistakes in embryos, before transferring only healthy ones back into the mother’s womb.
• Adoption

For each option, the doctor will provide you with information on what you should expect.

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