Prenatal Testing or Screening?

• 作者: Evans Mark I. Evans Shara M.
• 来源期刊: 母胎医学杂志（英文）
• 关键词: Genetic counseling Prenatal diagnosis Chorionic villus sampling Amniocentesis Array comparative genomic hybridization Noninvasive prenatal testing
• 年，卷（期）: 2020,（4）
• 所属期刊栏目: Review
• 页码范围: 217-222
• 页数: 6页
• 语种: 中文
• DOI: 10.1097/FM9.0000000000000061

摘要

Over the past 50 years, the scope and extent of prenatal diagnosis and screening for genetic disorders have improved geometrically. There has been a pendulum like swing from testing to screening back and forth as new technologies emerge. The concurrent developments of cell free fetal DNA analysis of maternal blood has dramatically changed patient’s choices towards screening. However, with the use of array comparative genomic hybridization of fetal DNA that requires diagnostic procedures (Chorionic villus sampling and amniocentesis), much more extensive diagnosis can be obtained. Until noninvasive methods can replicate what can be done with diagnostic procedures there still will be a "price to be paid" for opting for the non-invasive methods.