医学遗传学-20遗传咨询课件.pptx
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- 医学 遗传学 20 遗传 咨询 课件
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1、Medical GeneticsGenetic 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 about what to do nextMedical Genetics Genetic tests are done by analyzing small samples o
2、f blood or body tissues.They determine whether you,your partner,or your baby carry genes for certain inherited disorders.Medical Genetics Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling.Medical Genetics Most
3、 enter the field from a variety of disciplines,including biology,genetics,nursing,psychology,public health and social work.Medical Genetics Genetic counselors work as members of a healthcare team,providing information and support to families who have members with birth defects or genetic disorders a
4、nd to families who may be at risk for a variety of inherited conditions.Medical Genetics 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 fa
5、mily.Medical Genetics Genetic counselors also provide supportive counseling to families,serve as patient advocates,and refer individuals and families to community or state support services.Medical Genetics They serve as educators and resource people for other healthcare professionals and for the gen
6、eral public.Medical Genetics Some counselors also work in administrative capacities.Many engage in research activities related to the field of medical genetics and genetic counseling.Medical Genetics Most couples planning a pregnancy or who are expecting dont need genetic counseling.Medical Genetics
7、 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.Medical Genetics Cleft palate and clubfoot,two of the more common birth defects,can be sur
8、gically repaired,as can many heart malformations.Medical Genetics 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.Medical Genetics For exa
9、mple,several babies have been diagnosed with spina bifida before birth.Recent research suggests that delivering a baby with spina bifida via cesarean section can minimize damage to the babys spine-and perhaps reduce the likelihood that the child will need a wheelchair.Medical Genetics You should con
10、sider 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(2)if an amniocentesis yields an unexpected result(such as a chromosomal defect in the unborn baby)Medical Genetics(3)if eit
11、her parent or a close relative has an inherited disease or birth defect(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 Medical Genetics(6)if the mother-to-be has had two or more miscarria
12、ges or babies that died in infancy(7)if the mother-to-be will be 35 or older when the baby is bornMedical Genetics Chances of having a child with Down syndrome increase with the mothers age:a 35-year-old woman has a one in 350 chance of conceiving a child with Down syndrome.This chance increases to
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