《医学遗传学 Medical Genetics》课程授课教案（PPT课件讲稿）第十七章 出生缺陷（一）

Medical Genetics 17出生缺陷 Birth efects

Medical Genetics 17 出生缺陷 Birth Defects

Medical Genetics Birth defects are defined as abnormalities of structure function or body metabolism that are present at birth

Medical Genetics Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth

Medical Genetics 1 General One of the most common worries for expectant parents is that something will be wrong with their bab

Medical Genetics 1. General One of the most common worries for expectant parents is that something will be wrong with their baby

Medical Genetics However most babies are born without problems, while most of those who are can have treatment that will make them much better, or even allow them to lead a normal life

Medical Genetics However, most babies are born without problems, while most of those who are can have treatment that will make them much better, or even allow them to lead a normal life

Medical Genetics Understanding the nature and causes of birth defects can help reduce the mystery, fear and guilt often associated with them

Medical Genetics Understanding the nature and causes of birth defects can help reduce the mystery, fear and guilt often associated with them

Medical Genetics An international monitoring programme shows that, across Europe, just over 2 per cent of babies are discovered at birth to have a defect that will affect their ability to survive or function normally

Medical Genetics An international monitoring programme shows that, across Europe, just over 2 per cent of babies are discovered at birth to have a defect that will affect their ability to survive or function normally

Medical Genetics Some defects are often not discovered until later(eg deafness and problems in walking)

Medical Genetics Some defects are often not discovered until later (eg deafness and problems in walking)

Medical Genetics There is considerable regional variation in the rate of defects seen at birth. Glasgow and dublin have traditionally been black spots, with rates over 3 per cent, but these figures are falling

Medical Genetics There is considerable regional variation in the rate of defects seen at birth. Glasgow and Dublin have traditionally been black spots, with rates over 3 per cent, but these figures are falling

Medical Genetics The number of babies actuall born with defects is also markedly affected by the availa bility of prenatal screening and the availability of voluntary termination of pregnancy in the case of severe abnormalitⅰes

Medical Genetics The number of babies actually born with defects is also markedly affected by the availability of prenatal screening, and the availability of voluntary termination of pregnancy in the case of severe abnormalities

Medical Genetics 2 Forms of birth defects Defects of limbs heart and spinal cord represent about half of al abnormalitⅰes

Medical Genetics 2. Forms of Birth Defects Defects of limbs, heart and spinal cord represent about half of all abnormalities