singling out genetic disorders and disease挑出遗传疾病和疾病.pdfVIP

De Rycke Genome Medicine 2010, 2:74 /content/2/10/74 RE VIE W Singling out genetic disorders and disease Martine De Rycke* the uterus of the patient. PGD is performed for couples at Abstract high risk of transmitting a genetic condition to their Preimplantation genetic diagnosis (PGD) involves children; it offers the advantage of circumventing an testing of single cells biopsied from oocytes and/ invasive prenatal diagnosis and therapeutic abortion. or embryos generated in vitro. As only embryos Preimplantation genetic screening (PGS) involves the unaected for a given genetic condition are selection of euploid embryos to improve in vitro fertiliza- transferred to the uterus, it avoids prenatal diagnosis tion (IVF) results and to avoid pregnancies with chromo- and termination of pregnancy. Follow-up data from somal abnormalities [1]. Considering the increasing risk PGD pregnancies, deliveries and children show an for aneuploidy with advanced maternal age and findings acceptable live birth rate and, so far, no detrimental of high aneuploidy rates in spontaneous abortions, PGS eects of the procedure have been observed. Of has been offered to specific IVF patient groups: patients course, the long-term health outcome is currently of advanced maternal age and patients with recurrent unknown. PGD was rst performed in 1990 and IVF failure or repeated miscarriages (not due to trans- remained an experimental procedure for a number location