A broad range of testing modalities for fetal genetic disease has been established. These include carrier screening for single-gene mutations, first-trimester and second-trimester screening for chromosome abnormalities and open neural-tube defects, prenatal diagnosis by means of chorionic villus sampling and amniocentesis, and preimplantation genetic diagnosis. Reproductive decisions before and...

Since the first clinical preimplantation genetic diagnosis (PGD) cycles carried out in 1989, continuous technical improvements have supported progression from what was initially perceived to be an experimental procedure to a widely acceptable alternative to conventional prenatal diagnosis. PGD requires the use of assisted reproductive technology (ART) to create the preimplantation-stage embryo,...

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...

This article covers the rapidly advancing field of preimplantation genetic diagnosis (PGD), the molecular genetic analysis of cells taken from embryos formed through in vitro fertilization (IVF). The article focuses on current practices in patient management, relevant IVF and PGD procedures, molecular methods used in the genetic analysis, and technical difficulties that can affect test results....

bjective: To review a 12-year experience of the world’s three largest preimplantation genetic diagnosis PGD) centers. esign: Multicenter analysis of the clinical outcome of PGD. etting: In vitro fertilization programs at the Reproductive Genetics Institute, Chicago, Illinois; Saint arnabas Medical Center, West Orange, New Jersey; and SISMER, Bologna, Italy. atient(s): Poor-prognosis IVF patient...