Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Pennsylvania, 3701 Market Street, Suite 800, Philadelphia, PA 19104, USA.
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Pennsylvania, 3701 Market Street, Suite 800, Philadelphia, PA 19104, USA.
Obstet Gynecol Clin North Am. 2018 Mar;45(1):113-125. doi: 10.1016/j.ogc.2017.10.009.
Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates.
胚胎植入前遗传学检测包括胚胎植入前遗传学筛查（PGS）和胚胎植入前遗传学诊断（PGD）。PGS 通过确保移植具有更高着床机会并导致活产的整倍体胚胎来提高体外受精的成功率。PGD 能够识别具有特定致病突变的胚胎，并移植未受影响的胚胎。全基因组扩增和基因组工具的发展，包括单核苷酸多态性微阵列、比较基因组杂交微阵列和下一代测序，已经实现了更快、更准确的诊断，从而提高了妊娠和活产率。
