Volume 109, Issue 2, p181-368
Anthony R. Gregg, M.D., M.B.A., Steven R. Lindheim, M.D.
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.