Objective: To review the techniques and indications of preimplantation genetic testing, including preimplantation genetic diagnosis and screening. Options: Limited to an introductory discussion about the genetic aspects of preimplantation reproductive techniques. Outcomes: This update does not discuss in detail the adverse outcomes that have been recorded in association with assisted reproducti...

Preimplantation genetic diagnosis (PGD) involves testing for specific genetic conditions prior to the implantation [5] of an embryo in the uterine wall. This form of genetic screening has been made possible by the growth of in-vitro fertilization [6] (IVF) technology, which allows for the early stages of development to occur in a laboratory dish rather than in vivo [7]. The purpose of PGD is to...

Objective: To evaluate the use of multiple displacement amplification (MDA) for whole-genome amplification in the preimplantation genetic diagnosis (PGD) of Marfan syndrome. Design: Multiple displacement amplification was used to amplify the whole-genome directly from a single cell. The MDA product was used for polymerase chain reaction (PCR) analysis of five different loci. At this point MDA w...

Embryo biopsy for preimplantation genetic diagnosis can be performed on the oocyte/zygote, cleavage stage embryo, or blastocyst, but the majority of centres perform cleavage stage biopsy. Single-cell diagnosis is undertaken by the polymerase chain reaction or fluorescent in-situ hybridization. Technical difficulties have arisen with preimplantation genetic diagnosis, such as allele dropout and ...

OBJECTIVE To update and review the techniques and indications of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). OPTIONS Discussion about the genetic and technical aspects of preimplantation reproductive techniques, particularly those using new cytogenetic technologies and embryo-stage biopsy. OUTCOMES Clinical outcomes of reproductive techniques followi...

Background: Mammalian preimplantation development is a complex process involving dramatic changes in the transcriptional architecture. However, it is still unclear about the crucial transcriptional network and key hub genes that regulate the proceeding of preimplantation embryos. Materials and Methods: Through single-cell RNAsequencing (RNA-seq) of both human and mouse preimplantation embryos, ...

Cystic fibrosis (CF) is the most common genetic disease among Caucasians. Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders. The CF and DMD genes were discovered a few years ago, which provided the possibility for prenatal diagnosis and preimplantation diagnosis of CF and DMD by using specific DNA analysis. In this article, CF, DMD, the process of the identi...

Preimplantation genetic testing (PGT) involves analysis of biopsied cells as part of an assisted reproductive procedure. It is generally considered to be divided into 2 categories. Preimplantation genetic diagnosis (PGD) is used to detect a specific inherited disorder and aims to prevent the birth of affected children in couples at high risk of transmitting a disorder. Preimplantation genetic s...

F.Fiorentino,,, A.Biricik, H.Karadayi, H.Berkil, G.Karlikaya, S.Sertyel, D.Podini, M.Baldi, M.C.Magli, L.Gianaroli and S.Kahraman EmbryoGen (Centre for Preimplantation Genetic Diagnosis), Rome, Reproductive Endocrinology and Genetics Unit, Istanbul Memorial Hospital, Istanbul, Turkey and GENOMA (Molecular Genetics Laboratory), Rome, Italy To whom correspondence should be addressed at: EmbryoGen...