GENETICS QUESTIONNAIRE & CONSENT FORM
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1 Name (F) Name (M) GENETICS QUESTIONNAIRE & CONSENT FORM DOB: DOB: ***Please answer the following questions about yourself, your partner and your related family members with as much detail as possible. CONDITIONS: YES NO Specify what and who Chromosomal abnormalities, translocation disorders Cleft palate or other birth defects Open spinal defect (e.g. spina bifida, anencephaly, hydrocephalus) Blood disorders or bleeding disorders: (e.g. Factor V Leiden, Protein C deficiency, Hemophilia, sickle cell anemia disease or trait, Thalassemia) Muscle or neurological disease (e.g. muscular dystrophy, Huntington disease) carrier or disease Heart defect at birth Mental retardation, Down s Syndrome, Autism, Fragile X syndrome Stillbirth, or three or more pregnancy losses Developmental delay or learning disabilities Cancers- especially before age 21, ovarian cancer before age 50 Insulin dependent diabetes, PKU, lupus, other chronic conditions Kidney disease before age 40 Premature menopause before age 40 Any known infertility issues (complete absence of sperm, tubes, etc.) ***Please list any other familial, inherited disorder or chromosomal disease that may not be listed above that you have knowledge of, OR use this space to be more detailed about your answers above.
2 CHROMOSOMAL DISORDERS Genetic disease may be caused by abnormal chromosomes. Normally, each parent passes on 23 chromosomes to their child, resulting in a total of 46 chromosomes. Each chromosome is made up of many genes. If an embryo is formed with too many, too few, or damaged chromosomes, then the embryo/pregnancy may not be viable and may result in a miscarriage. However, if a child is born with one of these abnormalities, then they may have a genetic disorder. An example of this is Down syndrome, which results from an extra copy of chromosome 21. The risk of having a child with a chromosomal disorder increases with increasing maternal age. During your pregnancy, you will be offered screening tests to see if your fetus is at increased risk of having a chromosomal disorder. If you are interested in seeing a genetics counselor BEFORE you conceive in order to better understand your risk of having a child with a chromosomal disorder, please let us know. -Are you and your partner related by blood? Y N UNSURE *If YES, please explain relationship: -In any previous relationship(s)/marriage(s) have you or your partner had a child born with a birth defect or had a pregnancy or child diagnosed with Down Syndrome? Y N UNSURE *If YES, please explain: -Have you ever had any genetic screening or testing completed? Y N UNSURE *If YES, please note results & date below: -Have you ever had chromosome analysis? Y N UNSURE *If YES, please note results & date below: -Have you or anyone in your families had serious medical conditions in infancy or childhood not listed previously? Y N UNSURE *If YES, please give details below:
3 PRECONCEPTION CARRIER SCREENING- Genetic diseases can be caused by abnormal genes that are passed from one or both parents to their children. Depending on the type of disease, it may result from inheriting either one abnormal gene (from one parent) or two abnormal genes (one from each parent). Preconception carrier screening allows couples to learn about their chances of having a baby with some of these genetic disorders. Preconception carrier screening involves testing to see if you or your partner is a carrier of a certain genetic disorder, meaning that you do not have the disease but that you have a gene for that disorder that you could pass on to your child. Carrier screening can be done before pregnancy, during pregnancy, or in children after delivery if they are suspected of having a certain disorder. The potential benefits of screening earlier are that you may have a broader range of options and/or more time to make decisions. Carrier screening is available for a number of genetic disorders. If you are at increased risk of any particular disorder(s) either due to a family history of the disorder or due to your ethnicity, then you may want to consider carrier screening. The American College of Obstetricians and Gynecologists recommends that cystic fibrosis screening be offered to all women of reproductive age once during their lifetime. ***Some genetic conditions occur more commonly in certain racial and ethnic groups. ESTIMATED CARRIER FREQUENCIES BASED ON ETHNIC ORIGIN POPULATION: CONDITION: CARRIER FREQUENCY: African-American Sickle Cell 1 in 10 1 in 65 1 in 75 Ashkenazi Jewish Gaucher disease Dysautonomia 1 in 15 1 in 26-1 in 29 1 in 30 1 in 32 1 in 40 Asian Alpha-Thalassemia 1 in 20 1 in 50 European American 1 in 25-1 in 29 French Canadian, Cajun 1 in 30 Hispanic 1 in 46 1 in 30-1 in 50 Mediterranean Sickle Cell 1 in 25 1 in 29 1 in 40
4 ANCESTRY: ***Please answer the following questions about your ethnic backgrounds and any genetic testing or carrier screening you may have had. *** Female Check all that apply Yes Have you had carrier testing for: No Yes Unsure If you had testing, what were the results? Date of testing? Caucasian? Italian, Greek, Indian, Middle Eastern? Southeast Asian, Taiwanese, Chinese, Philipino? African, African- Sickle-cell trait American, Caribbean, Hispanic? Jewish, French Canadian, Cajun? Ashkenazi Jewish? Male Check all that apply Yes Have you had carrier testing for: Caucasian? Italian, Greek, Indian, Middle Eastern? Southeast Asian, Taiwanese, Chinese, Philipino? African, African- Sickle-cell trait American, Caribbean, Hispanic? Jewish, French Canadian, Cajun? Ashkenazi Jewish? No Yes Unsure If you had testing, what were the results? Date of testing?
5 Do you have any further history or concerns not previously mentioned that may affect your pregnancy or children? ***Please initial after each number and sign at the bottom of the page. 1. I/We have received copies of the Genetic Screening for Birth Defects fact sheet by ASRM (see next page) and understand that it provides a brief, general description of reasons to seek testing/counseling. 2. I/We understand that for carrier screening: a. The test(s) are for an abnormality in the genes, for disorder(s), using DNA analysis. b. The purpose of testing is to determine a carrier status (unaffected but able to pass the abnormal gene onto a child by inheritance) c. The test(s) are for genetic susceptibility and that the risk of having the disorder may be altered by family history and/or other factors. If the test(s) are positive for the disorder(s) or for an increased risk of the disorder(s), you may wish to have further independent testing or genetic counseling. d. The result of the above testing becomes part of your medical record and may be made available to individuals/organizations with legal access to your medical record, on a strict need-to-know basis. 3. I/We understand that even with a negative family history and/or normal testing, we may still have a child with a genetic or chromosomal disorder. 4. I/We (circle one) desire/do not desire further genetic counseling and/or testing. We are interested in the following tests and/or have the following questions: DATE: PATIENT S NAME: SIGNATURE: PARTNER S NAME: SIGNATURE: RN who reviewed the form: DATE: MD who reviewed the form: DATE:
6 Some additional resources online include For further information, please discuss with us further or ask your physician at home to determine your risks and desires for testing, as applicable.
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