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Donor Screening: Genetic Testing

  1. Why does California Cryobank perform a genetic evaluation on donor applicants?
  2. How is a donor's family history information collected and verified?
  3. What is a Long Profile?
  4. Can genetic testing eliminate the risk for birth defects?
  5. Why doesn't California Cryobank test for all known genetic diseases?
  6. How does California Cryobank determine which genetic tests to perform on its donors?
  7. What genetic testing does California Cryobank currently perform on its donors?
  8. When are new tests added to the donor qualification process?
  9. How can I find out what genetic tests were performed on the donors in which I am interested?
  10. Can I request that my donor be tested for other genetic conditions?
  11. Should I inform California Cryobank if I have a family history of a particular genetic disorder?
  12. What can I do to reduce the risk for birth defects in my child?
  13. Where can I obtain more information about genetic testing?
  1. Why does California Cryobank perform a genetic evaluation on donor applicants?
    Every woman has a 3 to 4% chance to have a child with a birth defect, regardless of whether she conceives naturally or uses assisted reproductive technologies. It is not possible to eliminate these risks or test for all of them before becoming pregnant. However, a genetic risk assessment is performed on California Cryobank's donor applicants as part of the donor qualification process. The goal of the risk assessment is to try to reduce the risk for medical problems in the donor's offspring. If a donor applicant is considered to have an increased risk for having offspring with birth defects, above the 3 to 4% risk in the general population, he is not eligible to participate in our anonymous donor program.
  2. How is a donor's family history information collected and verified?
    At California Cryobank we collect medical information from donor applicants over a two to three month period from the time of their first contact with our company. Information is collected in multiple formats and by several different staff members and reviewed for consistency and accuracy. If we receive information that is incomplete or inconsistent, the applicant will be asked to provide additional information to clarify his family history in order to continue with the program.
  3. What is a Long Profile
    Long Profiles are detailed three-generation medical and genetic histories that each donor is required to complete when he enters the donor program. The family members described in the Long Profile include parents, siblings, grandparents, aunts, uncles and cousins. In addition to medical and genetic information, Long Profiles provide a variety of personal details including the donor's religion, hobbies, SAT scores, physical characteristics, etc. The Long Profile is presented in the donor's own handwriting, eliminating any risk of error in transcription. We strongly recommend that clients review these profiles before making their final donor selection. Genetic counselors are available for genetic consultations or to answer questions about the medical history reported.
  4. Can genetic testing eliminate the risk for birth defects?
    No. While it is not possible to test any one person for every genetic disorder, genetic testing is performed on our donor applicants for a number of common genetic disorders. Donor applicants who have an abnormal genetic test result are not eligible to participate in our sperm donor program. Donor applicants are eligible to participate only if they have negative genetic test results. The genetic testing helps to reduce the risk for these specific disorders in the donors' offspring but cannot completely eliminate the risks.
  5. Why doesn't California Cryobank test for all known genetic diseases?
    It is not possible to test anyone for all possible genetic diseases. There are thousands of inherited disorders, and the causes of many of these conditions are currently unknown.
  6. How does California Cryobank decide which genetic tests to perform on its donors?
    California Cryobank uses practice guidelines developed by the American College of Medical Genetics (www.acmg.net), American College of Obstetrics and Gynecology (www.acog.org), and the American Society of Reproductive Medicine (www.asrm.org) to determine the best practices for performing genetic testing on our anonymous sperm donors. We consider the reliability, utility, as well as the limitations of a particular genetic test when considering it for our program. We currently perform more genetic testing on our sperm donors than is recommended to the general population for routine prenatal or preconception care.
  7. What genetic testing does California Cryobank currently perform on its donors?
    Genetic Tests Currently Performed On Our Donors
    If genetic screening for any of the following conditions reveals an abnormal result during the donor qualification process, that donor applicant would not be eligible to continue in our program. Sperm donor applicants are eligible to participate only if they have negative genetic test results. It is important to note that while a negative genetic test result reduces the chance of having a child with a specific genetic disorder, this negative result cannot eliminate the risk for birth defects in an individual's offspring.

    Cystic Fibrosis Carrier Screening
    Cystic fibrosis (CF) is a chronic illness that typically involves severe lung disease and gastrointestinal problems. People with CF often have a shortened lifespan. Cystic fibrosis is inherited in an autosomal recessive manner which means that both parents have to carry mutations for CF to be at risk of having a child affected with this disorder. CF occurs most often among individuals of Caucasian ancestry; approximately 1 out of every 25 healthy Northern European or Ashkenazi Jewish individuals carries a mutation for CF. Carrier screening for cystic fibrosis is performed by analyzing the donor's DNA for common mutations or changes in the gene for CF. CF carrier screening is performed on all of CCB's sperm donor applicants, regardless of the donor's ancestry.

    Hemoglobin Evaluation
    Hemoglobin is the molecule that carries oxygen to the cells of our bodies. Hemoglobin disorders are inherited in an autosomal recessive manner. This means that a child must inherit mutations from both parents to be at risk of developing a disorder such as alpha-thalassemia, beta-thalassemia, or sickle cell anemia. A hemoglobin evaluation on our donor applicants includes a complete blood count (CBC) which evaluates the size, shape, and number of a person's blood cells. In addition, a test called a hemoglobin fractionation is performed to detect many, but not all, clinically significant differences in a person's hemoglobin.

    • Alpha-Thalassemia and Beta-Thalassemia
      Individuals who are affected with thalassemia generally have severe anemia and may require frequent blood transfusions and other medical interventions over the course of their lifetimes. Some types of thalassemia may result in a shortened lifespan; more severe forms may result in fetal demise or death in infancy. Alpha-thalassemia occurs most often among individuals of Asian or African ancestry. Beta-thalassemia (also known as Cooley's anemia or Mediterranean anemia) occurs most often among people of Mediterranean descent.
    • Sickle Cell Anemia
      Hemoglobin S is the hemoglobin that is found in abnormal amounts in a person who is affected with sickle cell anemia. Sickle cell anemia causes painful episodes of joint and bone pain and increased risks for strokes, infections, and organ damage. Approximately 1 out of every 10 individuals of African descent carries a mutation for sickle cell anemia.

    Chromosome Analysis
    Chromosomes are the structures that carry our DNA. A chromosome analysis looks at the number and the structure of an individual's chromosomes. Typically, an analysis of human chromosomes reveals a total of 46 chromosomes. If a sperm donor applicant has an abnormal chromosome numbers or structure he would not be eligible to participate in our program.

    Spinal Muscular Atrophy Carrier Screening
    Spinal muscular atrophy is a progressive neuromuscular disease that results in muscle wasting and, in its most common and severe form, death due to respiratory failure before two years of age. SMA is inherited in an autosomal recessive manner which means that both parents must be carriers of mutations for SMA to be at risk of having a child affected with this disorder. Approximately 1 out of every 50 individuals in the general population carries a mutation for SMA. California Cryobank began performing carrier screening for spinal muscular atrophy (SMA) on all active sperm donors and donor applicants in August 2008.

    Additional genetic tests currently performed on donors with Jewish ancestry
    The following disorders occur most often among individuals of Ashkenazi Jewish ancestry. Each of these conditions is inherited in an autosomal recessive manner which means that both parents have to carry mutations for the same condition to be at risk of having a child affected with that disorder. Carrier screening for these conditions is performed by analyzing the donor's DNA for common mutations that cause these conditions in the Ashkenazi Jewish population.

    Bloom Syndrome Carrier Screening
    Individuals affected with Bloom syndrome have growth problems, poor immune system function, and a high rate of cancer. Most affected individuals die from cancer before 30 years of age. The carrier frequency for Bloom syndrome is approximately 1 in 100 among individuals with Ashkenazi Jewish ancestry. California Cryobank began performing carrier screening for Bloom syndrome on Jewish donors in August 2008.

    Canavan Disease Carrier Screening
    Symptoms of Canavan disease vary from person to person and the onset of symptoms can occur at different stages of life. The most common type occurs in infancy, with death occurring in early childhood. Affected infants have mental retardation, seizures, and other neuromuscular problems. The carrier frequency for Canavan disease in the Ashkenazi Jewish population is approximately 1 in 40.

    Familial Dysautonomia Carrier Screening
    Familial dysautonomia is a disorder of the nervous system, characterized by insensitivity to pain, episodes of vomiting and sweating, and unstable blood pressure and body temperature. In addition, people with familial dysautonomia can have learning disabilities. The average life expectancy for someone with familial dysautonomia is approximately 30 years. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 30.

    Fanconi Anemia Type C Carrier Screening
    Symptoms of Fanconi anemia Type C include short stature, significant bone marrow problems, and heart, kidney, gastrointestinal, spinal, or limb defects. Lifespan may be shortened, as individuals with this condition have an increased risk for leukemia and other cancers. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 89.

    Gaucher Disease Carrier Screening
    Symptoms of Gaucher disease include frequent fevers, bone pain and fractures, problems with blood clotting, anemia, seizures, and enlargement of the spleen and liver. The symptoms vary in age of onset and severity and may result in a shortened lifespan. Treatment for Gaucher disease is currently available for many affected individuals. The carrier frequency for Gaucher disease in the Ashkenazi Jewish population is approximately 1 in 12.

    Mucolipidosis Type IV Carrier Screening
    Mucolipidosis Type IV (MLIV) affects the development of the brain and nervous system beginning in the first year of life. There is no treatment for MLIV at this time. The carrier frequency for Mucolipidosis Type IV in the Ashkenazi Jewish population is approximately 1 in 120. California Cryobank began performing carrier screening for MLIV on Jewish donors in August 2008.

    Niemann-Pick Disease Type A Carrier Screening
    Individuals with Niemann-Pick disease Type A have enlargement of the liver and spleen with rapid neurological deterioration and death typically occurring by age 4. The carrier frequency for Niemann-Pick disease in the Ashkenazi Jewish population is approximately 1 in 90.

    Tay-Sachs Disease Carrier Screening
    Tay-Sachs disease (TSD) is a progressive neurological disorder that begins in infancy with the loss of developmental milestones and typically results in death by age 5. Tay-Sachs disease occurs most often among individuals with Ashkenazi Jewish or French Canadian ancestry. Approximately 1 out of every 30 individuals of Ashkenazi Jewish ancestry carries a mutation for TSD. Routine carrier screening for TSD is performed by enzyme analysis.

  8. When are new tests added to the donor qualification process?
    Genetic tests and technologies are continuously being developed and improved. These new developments may lead to changes in the genetic testing that we perform on our sperm donor applicants. In most cases when we add new genetic tests to our screening process, the tests are performed on donors who are currently active in our program and on new donor applicants. The new tests are not performed on retired donors. Therefore, not every donor who has vials available for purchase has had exactly the same genetic testing.
  9. How can I find out what genetic tests were performed on the donors in which I am interested?
    You can learn more about which genetic tests were performed on a particular donor by contacting one of our genetic counselors. Our genetic counselors are available to discuss the tests performed on your donor as well as the test limitations and additional testing options that you may want to consider. For more information, or to schedule a consultation with one of our genetic counselors, please contact the Genetics Department at 877-743-6384.
  10. Can I request that my donor be tested for other genetic conditions?
    Special requests for genetic testing are accommodated whenever possible. If you have a family history or carry a mutation for a particular condition and there is a medical risk to your offspring, we will contact your donor and determine if he is available for additional testing. For more information, please contact the Genetics Department at 877-743-6384.
  11. Should I inform California Cryobank if I have a family history of a particular genetic disorder?
    Yes! In some cases, if you have a personal or family history of a genetic condition, the genetic testing performed on our donors may not be sufficient for your pregnancy. Special testing may be available on your donor of interest. If you have a positive genetic test result or a family history of a genetic disease, please contact our Genetics Department at 877-743-6384 to obtain information about special testing options that may be available for your situation.
  12. What can I do to reduce the risk for birth defects in my child?
    Although we screen our donors to help reduce the risk for medical issues in donor offspring, it is important for all clients to speak with their physician and/or genetic counselor about their own family histories. A child inherits 50% of his or her DNA from each parent. Many clients may not know that they have an increased risk to have a child with medical problems unless they have a thorough family history evaluation. Genetic consultations are available by appointment through CCB Genetic Counseling Services if you are interested in evaluating your personal medical history and discussing genetic testing options that you may want to consider for yourself. For more information, or to schedule a consultation with one of our genetic counselors, please contact CCB Genetic Counseling Services at 877-943-6384.
  13. Where can I obtain more information about genetic testing?
    For more information, or to schedule a consultation with one of our genetic counselors, please contact the Genetics Department at 877-743-6384.