EPISODE · Jan 4, 2024 · 32 MIN
EP1 产前基因检测的超级进化@刘鹏飞
from 医学遗传前沿
本期内容，我们请到了来自美国贝勒医学院的刘鹏飞教授，一起聊聊产前基因检测的技术发展，及其对于学术界/临床检验界以及每一个家庭的意义。主要内容1. 携带者筛查carrier screening2. 无创产前检测 non-invasive prenatal testing (NIPT)3. 有创产前检测 invasive prenatal testing4. 十年之后的产检检测可以达到哪些里程碑？提到的文献使用cfDNA进行WES级别的检测：www.nejm.orgwww.nejm.org术语词汇表Egg donor, sperm donor 卵子和精子供体Non-invasive prenatal testing (NIPT) 无创产前检测Non-invasiveprenatal screening (NIPS) 无创产前筛查（NIPT更新的说法）Human phenotype ontology (HPO) 人类表型术语ChorionicVillus Sampling (CVS) 绒毛膜取样在小宇宙查看该单集文稿
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