预防出生缺陷的基本知识.pptVIP

预防出生缺陷的基本知识;What is a birth defect?什么是出生缺陷？;Abnormal morphology often shows congenital malformations，such as children without brain, spina bifida, cleft lip, abnormal limbs, est.. 形态结构异常常表现为先天畸形，例如无脑儿、脊柱裂、兔唇、四肢异常等。;Defects of physiological functions and metabolism often lead to congenital mental retardation, deafness, dumb. 生理功能和代谢方面的出生缺陷常常导致先天性智力低下、聋、哑等。 在出生缺陷中以先天性心脏病、唐氏综合征、神经管畸形等最为常见。 Among the birth defects, congenital heart disease, Down’s syndrome and neural tube defects are the most common diseases.;What is Down‘s syndrome？什么是唐氏综合征（先天愚型)?;Main clinical manifestations of Down‘s syndrome 唐氏综合征的主要临床表现 Severe mental retardation 严重的智力低下 Unique face，such as eyes wide apart, low nose 独特的面容，如眼距宽、鼻梁低 Infertile male patients, female patients with occasional fertility 男性患者无生育能力，女性患者偶有生育能力 50% of children with congenital heart disease. 50%患儿伴有先天性心脏病 ;What is open neural tube defects?什么是开放性神经管缺损？;Factors affecting neural tube closure includes virus infection in pregnancy, lack of folic acid intake or metabolic abnormalities of folic acid , malnutrition, and genetic factors, est. 影响神经管闭合的因素有孕期病毒感染、叶酸摄入不足或代谢异常、营养不良及遗传因素等 ;Causes of birth defects出生缺陷的原因;遗传因素（Genetic factors）;遗传因素（Genetic factors）;遗传因素（Genetic factors）;环境因素(Environmental factors )和遗传及共同作用;致畸率与暴露的时间有关Teratogenic rate and the exposure time;致畸率与暴露的时间有关Teratogenic rate and the exposure time;怀孕第几周最容易引起胎儿畸形？When most likely to cause fetal malformations ？;How to prevent birth defects？如何预防出生缺陷？;Primary prevention ——To prevent the occurrence of birth defects in children第1道防线——防止出生缺陷儿的发生;1、婚前检查（Premarital medical examination）;2、遗传咨询（ Genetic counseling ）;有下列情况之一的夫妻应进行遗传咨询Couples with one of the following should be carried out genetic counseling;3、孕前保健（ Preconception care ）;Secondary prevention ——To Reduce birth defects in children born第2道防线——减少出生缺陷儿的出生;1、产前筛查（Prenatal screening）;早孕期筛查（Early pregnancy screening）;中孕期筛查（Second trimester screening）;0.06;15;15~20w母血清筛查;MsAFP正常;筛查时注意问题（Attention to the probl