New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

Technical Update: Preimplantation Genetic Diagnosis and Screening.

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...

Preimplantation genetic screening.

Preimplantation Genetic Screening

In the last 30 years, genetic testing techniques have been developed to identify chromosomally normal embryos in vitro, thereby potentially increasing the proportion of successful cycles with elective single-embryo transfer, and minimizing twin-pregnancy complications and miscarriages. This testing is termed "pre-implantation genetic screening" (PGS), in contrast to preimplantation genetic diag...

Preimplantation Genetic Diagnosis

Inherited genetic diseases have been a problem for some families attempting to conceive a child. If affected parents or carriers of genetic disorders wished to avoid transmitting a condition to their child, they can choose to have prenatal diagnosis of their foetus. Amniocentesis or chorionic villus sampling enables cells from the foetus to be collected and sent for genetic analysis. They could...

Preimplantation Genetic Diagnosis (PGD)

Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization (IVF) cycle to increase the potential for a successful pregnancy and delivery. The most common applications for PGD include testing for extra or missing chromosomes (aneuploidy screening), familial structural chromosome rearrangements, and diagnosis of genetic disease in couples of increased...