Preimplantation Genetic Diagnosis for Beta Thalassemia

Preimplantation genetic diagnosis for sickle-cell anemia and for beta-thalassemia.

We developed single-cell polymerase chain reaction (PCR) assays for preimplantation genetic diagnosis (PGD) in couples carrying mutations in the beta-globin gene. With PGD the genetic status of an embryo obtained after intracytoplasmic sperm injection (ICSI) is determined by PCR analysis in single blastomeres, allowing only healthy embryos to be transferred to the uterus. We carried out nine PG...

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...

Preimplantation genetic diagnosis.

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....

Karyomapping: Preimplantation genetic diagnosis