12Genetic Diagnosis-工具与遗传病诊断英文版课件.ppt

* * * * * * * * * * * The purpose of amniocentesis The concentration of AFP(AFAFP):NTD and Anencephaly(无脑畸形）. Chromosome analysis-Karyotype and FISH Biochemical detection-enzyme analysis DNA analysis * Clinical example-prenatal diagnosis of NTD Risk of a neural tube defect pregnancy MSS Detecting MSAFP If MSAFP is at normal level It should be detected by ultrasound to exclude NTD If MSAFP is higher than normal level It should be given Amniocentesis to detect AFAFP. If AFAFP is higher than normal level, it should be excluded other causes of elevated