TAILIEUCHUNG - Preimplantation Genetic Diagnosis

In 1990, preimplantation genetic diagnosis (PGD) was introduced as an experimental procedure to genetically screen human embryos during an in vitro fertilization (IVF) cycle (1,2). More than a decade later, PGD has become an established clinical procedure in assisted reproductive technologies with over 6500 PGD cycles performed worldwide, resulting in the birth of well over 1000 healthy babies and a pregnancy rate per transfer of approximately 24% (3). The safety of PGD is reflected in these comparable pregnancy rates with conventional IVF, as well as the equivalent incidence of birth abnormalities in the general population (4). . | __15_ Preimplantation Genetic Diagnosis Mandy G. Katz-Jaffe Colorado Center for Reproductive Medicine Englewood Colorado . INTRODUCTION In 1990 preimplantation genetic diagnosis PGD was introduced as an experimental procedure to genetically screen human embryos during an in vitro fertilization IVF cycle 1 2 . More than a decade later PGD has become an established clinical procedure in assisted reproductive technologies with over 6500 PGD cycles performed worldwide resulting in the birth of well over 1000 healthy babies and a pregnancy rate per transfer of approximately 24 3 . The safety of PGD is reflected in these comparable pregnancy rates with conventional IVF as well as the equivalent incidence of birth abnormalities in the general population 4 . PGD was initially performed for preexisting Mendelian-inherited monogenic disorders including X-linked disorders involving sex selection 1 cystic fibrosis 5 and Tay-Sachs disease 6 . With the development of interphase single-cell fluorescent in situ hybridization FISH in the early 1990s PGD has expanded to offer screening for chromosomal disorders including aneuploidy detection for clinically significant chromosomes 7 8 and translocations 9 10 . PGD involves the molecular analysis of genetic material derived from oocytes or embryos during an IVF cycle. Only embryos identified as free of the indicated genetic disorder or chromosomal error are selected for transfer to the woman s uterus. Consequently an established pregnancy is expected to be unaffected with respect to the indicated genetic testing. 313 314 Katz-Jaffe SOURCE OF GENETIC MATERIAL There are three different sources of genetic material potentially available for PGD polar bodies from the initial conception blastomeres from early cleaving embryos and trophectoderm cells from the later stage blastocyst. A biopsy is performed to remove these cells for subsequent genetic analysis 11 . Several procedures have .

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