最新医学遗传学 20遗传咨询eng v幻灯片.ppt

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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 GeneticsMedical GeneticsMedical GeneticsMedical GeneticsMedi

2、cal GeneticsMedical GeneticsMedical Genetics They serve as educators and resource people for other healthcare professionals and for the general public. Medical Genetics Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics

3、 and genetic counseling.Medical Genetics Most couples planning a pregnancy or who are expecting dont need genetic counseling. Medical Genetics 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

4、 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 surgically repaired, as can many heart malformations.Medical Genetics The best time to seek genetic counseling is before becoming pregnant, when a couns

5、elor 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 example, several babies have been diagnosed with spina bifida before birth. Recent research suggests that delivering a baby with spina bifida via c

6、esarean section can minimize damage to the babys spine - and perhaps reduce the likelihood that the child will need a wheelchair.Medical Genetics 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 feto

7、protein 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 either parent or a close relative has an inherited disease or birth defect(4) if either parent or a close relative has an inherited dis

8、ease 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 miscarriages 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

9、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 one in 110 by age 40 and one in 30 by age 45. Medical Genetics (8) if parents are concerned about genetic defects that occur

10、 frequently in their ethnic or racial groupMedical Genetics 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 It

11、alian, Greek, or Middle Eastern descent may carry the gene for thalassemia, a red blood cell disorder. Medical Genetics Before he meet with a genetic counselor in person, youll be asked to gather information about his family history. Medical Genetics The counselor will want to know of any relatives

12、with genetic disorders, multiple miscarriages, and early or unexplained deaths. Medical Genetics 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. Medical Ge

13、netics If more tests are necessary, the counselor will help him set up those appointments and track the paperwork. When the results come in, the counselor will call him with the news. Often, the counselor will encourage him to come in for a discussion.Medical Genetics The counselor will study his re

14、cords 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. Medical Genetics The counselor can then help him understand the inheritance patterns of any potential diso

15、rders and help assess his chances of having a child with those disorders.Medical Genetics 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 cant always predict the severity of the rel

16、ated disease. For instance, a child with cystic fibrosis can have debilitating lung problems or, less commonly, milder respiratory symptoms.Medical Genetics He and his family will have to decide what to do next. Genetic counselors help him to understand his options and adjust to the difficulties and

17、 uncertainties he faces. Medical Genetics If he has learned prior to conception that he and/or his partner are at high risk for having a child with a severe or fatal defect, his options might include: pre-implantation diagnosis using donor sperm or donor eggs adoptionMedical Genetics If he has recei

18、ved a prenatal diagnosis of a severe or fatal defect, his options might include: preparing himself for the challenges youll face when he have your baby fetal surgery to repair the defect before birth ending the pregnancy Medical Genetics For some families, knowing that theyll have an infant with a s

19、evere or fatal genetic condition seems too much to bear. Other families are able to adapt to the news - and to the birth - remarkably well.Medical Genetics Genetic counselors can share the experiences theyve had with other families in your situation. But they will not suggest a particular course of

20、action. Medical Genetics A good genetic counselor understands that what is right for one family may not be right for another. Medical Genetics Genetic counselors can, however, refer he to specialists for further help. For instance, many babies with Down syndrome are born with heart defects. Medical

21、Genetics The counselor might encourage him to meet with a cardiologist to discuss heart surgery, and a neonatologist to discuss the care of a post-operative newborn. Medical Genetics Genetic counselors can also refer he to social workers, support groups, or mental health professionals to help he adjust to and prepare for your complex new reality.38 结束语结束语