Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Florida College of Medicine, Gainesville, Florida.
Department of Obstetrics and Gynecology, Wright State University, Boonshoft School of Medicine, Dayton, Ohio.
Fertil Steril. 2018 Feb;109(2):181-182. doi: 10.1016/j.fertnstert.2017.12.029. Epub 2018 Jan 6.
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines. This month's Views and Reviews presents five different technologies that have disrupted the delivery of preimplantation and prenatal genetic services areas, including the pros and cons of expanded carrier screening in the preconception period and from the perspective of both sperm and egg donation; prenatal genetic screening using cell free DNA for fetal aneuploidy; chromosomal microarray in the context of prenatal diagnosis after amniocentesis or chorionic villous sampling, and a review of the development of next-generation sequencing technology which allows the anticipated transition from single variant screening to exome sequencing. In this series we focus towards improving the knowledge base to provide some simplicity to a rapidly evolving field.
基于基因组的技术已牢固地植入临床医学。它们迅速出现，并且在受孕前和受孕后期间的用途不断发展。这些技术从产前领域迁移到生殖内分泌学和不孕症专家的领域，在某些情况下几乎是同时发生的（扩展携带者筛查），在其他情况下则较慢（染色体微阵列），对于某些技术，由于道德和成本方面的考虑，其在各学科中的传播速度较慢。本月的观点和评论介绍了五种不同的技术，这些技术已经打破了植入前和产前遗传服务领域的界限，包括在受孕前和从精子和卵子捐赠的角度进行扩展携带者筛查的优缺点；使用游离胎儿 DNA 进行产前非整倍体筛查；羊膜穿刺术或绒毛取样后的产前诊断中的染色体微阵列，以及对下一代测序技术的发展进行回顾，该技术可实现从单一变异筛查到外显子组测序的预期转变。在本系列中，我们专注于提高知识库，为快速发展的领域提供一些简单性。
