Carrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner)

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1 Carrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner) The goal of our practice at ARMS is to make sure that you receive optimal care to improve your chances of having a healthy pregnancy and a healthy child. An important consideration in your pre-pregnancy planning for a healthy family is genetic carrier screening of you as prospective parents. Genetic carrier screening can help you understand your risk of having a child with a serious genetic disease. Each of us carries some genetic mutations, or alterations in the DNA of our genes. For the great majority of us, these DNA gene mutations remain silent and do not cause disease. However, some of us are carriers of mutations in our genes that have the potential to cause genetic diseases in our children. Typically carriers for recessive genetic diseases are healthy individuals who carry a genetic mutation in one of a pair of genes that are necessary for our health. Carriers of recessive disease mutations are generally not affected by the abnormal gene mutation because the normal gene in the pair of genes compensates for the abnormal gene s deficiency. However, when two parents are carriers for the same genetic disease, they can transmit their abnormal gene mutations through their sperm and egg into the genes of the fertilized egg. The abnormal mutations in both genes of the fertilized egg ultimately result in the future child being affected with the genetic disease caused by the abnormal genes. Sadly, most people do not know they are carriers for a genetic disease until they have a child born with the disease. Genetic screening is available to detect if future parents are carriers for recessive genetic diseases prior to their concieving a pregnancy. Genetic screening is usually performed on one parent first, and if the first parent tests positive as a carrier for a disease, then the other parent is tested; however, both parents may elect to be tested at the same time. The American College of Medical Genetics (ACMG) recommends that every adult planning a pregnancy be offered pre-pregnancy genetic screening for the incurable and commonly fatal genetic diseases of cystic fibrosis (CF) and spinal muscular atrophy (SMA). The frequency of carriers in the general population for CF is 1 in Caucasians; 1 in 46 Hispanics; 1 in 65 Africans, and 1 in 90 Asians. The frequency of carriers in the general population for SMA ranges from 1 in 40 to 1 in 60 regardless of ethnicity. In addition, The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommend screening for certain other incurable genetic diseases as indicated due to family history or ethnicity. These diseases are Sickle Cell Anemia in African ethnicity; Thalassemia in Southeast Asian and Mediterranean ethnicity; and in individuals of Ashkenazi Jewish ethnicity: Tay Sachs Disease, Canavan Disease, Bloom Syndrome, Familial Dysautonomia, Fanconi anemia group C, Gaucher s Disease, Mucolipidosis IV, and Niemann-Pick Disease type A. Genetic screening for the most common inherited form of mental retardation, Fragile X Syndrome, is available for all women and is recommended for prospective parents with a family history of mental retardation, autism, attention deficit disorder, adult onset tremor and ataxia (poor motor coordination), and premature ovarian menopause. The premutation carrier frequency for Fragile X Syndrome in women is 1/100-1/250 (men are not premutation carriers)

2 Prior to initiating fertility treatment at Arizona R eproductive Medicine S pecialists (AR MS ) we would like for you to make an informed choice in selecting preconception genetic carrier screening or deciding against having preconception genetic carrier screening. Your physicians at AR MS recommend preconception genetic carrier screening through one of two different laboratories, COUNS YL Laboratory and amdx Laboratory. A COG-ACMG Preconception S creening: The Universal Genetic Test (UGT) by Counsyl Laboratory The Universal Genetic Test (UGT) is an expanded test panel that screens for more than one hundred incurable genetic recessive diseases and includes all of the preconception genetic carrier screen tests recommended by The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) for individuals of all ethnicities. Please visit for the full list of the diseases screened in this expanded screening test Genetic carrier screening is often covered by insurance. The laboratory we recommend, Counsyl, will handle the billing process. Counsyl treats all patients as if this test was covered as an in-network benefit under their plan. As with any medical bill, patients will be responsible for co-pays, co-insurances, or deductibles according to their insurance plans. If your insurance company does not cover genetic testing services or you do not have medical insurance, then the out of pocket expense for the Universal Genetic Test is $349 and Fragile X testing is $200. I acknowledge that I elect to be screened by The Universal Genetic Test (UGT) by Counsyl Laboratory Partner (if applicable) I acknowledge that I elect to be s creened for Fragile X Syndrome by Counsyl Laboratory (females only)

3 ACOG-ACMG Preconception S creening: amdx Laboratory amdx Laboratory performs all of the preconception genetic carrier screen tests recommended by The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) for individuals of all ethnicities. In contrast to the Counsyl UGT that is a single test inclusive for all of the ACOG-ACMG recommended preconception genetic carrier screens, amdx Laboratory testing is limited to testing for specific diseases in each individual as indicated due to family history or ethnicity. amdx will perform a panel of three tests that includes screening for Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), and Fragile X Syndrome. amdx has an Expanded Ashkenazi Jewish Panel that is recommended for individuals of Eastern European Ashkenazi Jewish ethnicity. Hemoglobinopathy screening by hemoglobin electrophoresis for Sickle Cell Anemia (African ancestry) and Thalassemia (Southeast Asian, and Mediterranean ancestry) is not included in amdx testing and is performed by Sonora Quest Laboratories or Labcorp. amdx will bill your insurance company directly for the genetic testing. If your insurance company does not cover genetic testing services, then the maximum out of pocket expense that you will be billed for any testing through amdx is $25. If you do not have medical insurance then the costs for testing are higher than $25 and dependent on the cost for each test. I acknowledge that I elect to be screened for Cys tic Fibros is (CF), S pinal Mus cular Atrophy (S MA), and Fragile X S yndrome (females only) by amdx Laboratory Partner [if applicable] I acknowledge that I elect to be screened for the E xpanded As hkenazi J ewis h Panel and Fragile X S yndrome (females only) by amdx Laboratory Partner [if applicable]

4 Hemoglobinopathy T es t for African, S outheast Asian, Mediterranean ethnicity. Hemoglobin electrophoresis to screen for Sickle Cell Anemia (African ancestry) and Thalassemia (Southeast Asian, and Mediterranean ancestry) performed by Sonora Quest Laboratories or Labcorp. A hemoglobin electrophoresis by Labcorp or Sonora Quest Laboratories will frequently be covered by medical insurance or if you do not have medical insurance your out of pocket expense is generally less than $150. I acknowledge that I would like to be s creened for a Hemoglobinopathy (S ickle Cell Anemia, Thalassemias) by a Hemoglobin electrophoresis Partner [if applicable] What do my genetic test results mean; how are the results interpreted? Genetic carrier testing is a valuable tool but there are limitations: Negative Result- The genetic testing laboratory usually tests for the most common mutations (change in gene structure) and may not identify the less common mutations. So it is possible to have a negative test result but still have a genetic mutation that was not or could not be identified by the testing laboratory due to limitations of current technology. Positive Result- A positive test result indicates that you are a carrier for a genetic mutation that can cause specific genetic disease or can put you and/or your child at risk for developing a disease. If you are determined to be a carrier for a recessive disease, your reproductive partner will then be advised to undergo genetic carrier testing. If you are determined to be a premutation carrier for Fragile X syndrome, then a referral to our Reproductive Geneticist, Dr Johnson, or a genetics counselor is necessary before initiating treatment. Inconclusive result- Sometimes it is not possible for the testing laboratory to determine genetic mutations. In this case, the genetic carrier test may need to be performed again at the same or different testing laboratory. The results of genetic carrier testing are intended to be risk reducing, and not risk eliminating, and do not guarantee with one hundred percent certainty that you or your children are or will be healthy and disease free. It may take 2 to 3 weeks to receive genetic carrier test(s) results so you need to have genetic carrier tests performed prior to beginning fertility therapy. Additionally, if you are concerned with your risk for passing an inherited disorder to your offspring, you have the option of speaking with your ARMS physician, our Reproductive Geneticist, Dr Johnson, or a genetics counselor from Counsyl who may recommend additional preconception tests or prenatal diagnostic procedures during pregnancy.

5 Please sign below ONLY if you DO NOT want preconception genetic screening Partner [if applicable]

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