医学ppt课件产前诊断.ppt

Newborn Screening /amsci/articles/02articles/millingtoncap3.html Fetal Cells in the Maternal Circulation Non-invasive compared with Amnio and CVS Involves 2nd trimester maternal blood Preferable for male fetuses, due to difficulty in distinguishing maternal from female fetal cells at this time Remains investigational Preimplantation Genetic Diagnosis (PGD) Requires in vitro fertilization (IVF) Alternative to CVS or Amnio Success rate and risks of IVF may be barriers to PGD for some couples PGD PGD is based on ability to remove nucleus of one cell in an early embryo (8 or 16 cells), when all cells are totipotent, ie, the loss of a single cell does not compromise development Has been carried out for MCAD deficiency, Tay-Sachs disease and sickle cell disease 遺傳病治療(Gene Therapy) 鄭博仁副教授 基因 基因產物 代謝作用 功能作用 構造作用 Genetic diagnosis Direct enzyme analysis Phenylketonuria - absence of phenylalanine hydroxylase - inadequate tyrosine synthesis - mental retardation, etc. Treatment: controlled diet - low in meat, cheese, eggs - high in fruits, grains, vegetables In Vitro Fertilization Diagnosis: genetic defect ***moral dilemma*** what is a fetus? Diagnosis: genetic defect In Vitro Fertilization ***moral dilemma*** what is a fetus? Diagnosis: genetic defect Cystic fibrosis - life expectancy 20-30 yrs - medical advances - offspring will be carriers In Vitro Fertilization ***moral dilemma*** what is a fetus? Diagnosis: genetic defect Tay-Sachs disease - Ashkenazi Jewish descent - hexosaminidase deficiency - invariable fatal during infancy Treatment of Genetic Diseases No effect on genetic makeup Problems: - adherence to dietary restrictions - repeated injections - side effects - inadequate/excessive dosages - contamination (HIV, HBV, etc.) ?