医学遗传学 20遗传咨询eng v(0001)

2020/8/24
Genetic counselors work as members of a healthcare team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions.
20 遗传咨询 Genetic Counseling
2020/8/24
Genetic counseling is the process
• evaluating family history and medical records • ordering genetic tests • evaluating the results of this investigation • helping parents understand and reach decisions
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3. What to Expect During a Visit
Before he meet with a genetic counselor in person, you'll be asked to gather information about his family history.
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They serve as educators and resource people for other healthcare professionals and for the general public.
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Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling.
(2) if an amniocentesis yields an unexpected result (such as a chromosomal defect in the unborn baby)
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(3) if either parent or a close relative has an inherited disease or birth defect
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Cleft palate and clubfoot, two of the more common birth defects, can be surgically repaired, as can many heart malformations.
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The best time to seek genetic counseling is before becoming pregnant, when a counselor can help assess your risk factors. But even after he become pregnant, a meeting with a genetic counselor can still be helpful.
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The counselor will study his records before meeting with him, so he can make the best use of his time together. During his session, he or she will go over any gaps or potential problem areas in his family or medical history.
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Genetic counselors also provide supportive counseling to families, serve as patient advocates, and refer individuals and families to community or state support services.
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They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available options with the family.
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Chances of having a child with Down syndrome increase with the mother's age: a 35-year-old woman has a one in 350 chance of conceiving a child with Down syndrome. This chance increases to one in 110 by age 40 and one in 30 by age 45.
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The counselor can then help him understand the inheritance patterns of any potential disorders and help assess his chances of having a child with those disorders.
(4) if either parent or a close relative has an inherited disease or birth defect
(5) if either parent already has children with birth defects or genetic disorders
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You should consider genetic counseling if any of the following risk factors apply to you:
(1) if a standard prenatal screening test (such as the alpha fetoprotein test) yields an abnormal result
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The counselor will want to know of any relatives with genetic disorders, multiple miscarriages, and early or unexplained deaths.
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The counselor will also want to look over his medical records, including any ultrasounds, prenatal test results, past pregnancies, and medications he may have taken before or during pregnancy.
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(8) if parents are concerned about genetic defects that occur frequently in their ethnic or racial group
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For example, couples of African descent are most at risk for having a child with sickle cell anemia; couples of central or eastern European Jewish (Ashekenazi), Cajun, or Irish descent may be carriers of Tay-Sachs disease; and couples of Italian, Greek, or Middle Eastern descent may carry the gene for thalassemia, a red blood cell disorder.
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2. Who Should See One
Most couples planning a pregnancy or who are expecting don't need genetic counຫໍສະໝຸດ eling.2020/8/24
About 3% of babies are born with birth defects each year, according to the U.S. Centers for Disease Control and Prevention - and of the malformations that do occur, the most common are also among the most treatable.
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He or she will distinguish between risks that every pregnancy faces and risks that he personally faces. Even if he discovers he has a particular problem gene, science can't always predict the severity of the related disease. For instance, a child with cystic fibrosis can have debilitating lung problems or, less commonly, milder respiratory symptoms.