preimplantation genetic diagnosis (PGD)

Introduction

Genetic analysis on embryos after in vitro fertilization, prior to implantation into the uterus of the maternal host.

Indications

• selection of healthy embryos for high-risk couples
• HLA matching to preselection of embryos that offer the potential of bone marrow transplantation*

* Example (of Fanconi's anemia)

• a couple has a child with a severe genetic disease, i.e. Fanconi's anemia
• PGD may be used to select an in vitro fertilized homozygous normal or heterozygous carrier that is HLA matched with the affected sibling
• at birth, cord blood is collected from the in-vitro fertilized newborn
• the cord blood is transplanted into the affected sibling which results in successful hematopoietic reconstitution

More general terms

• special chemistry test