Pre-implantation genetic diagnosis

Pre-implantation genetic diagnosis is an alternative to prenatal diagnosis for a select group of patients. Patients have to go through in vitro fertilization in order to produce embryos in vitro, from which one or two cells are removed at the 8-cell stage. A fluorescence in situ hybridization or polymerase chain reaction is carried out for the genetic diagnosis. Fluorescence in situ hybridization is used for the analysis of chromosomes for sexing for X-linked disease, chromosome abnormalities and aneuploidy screening. Aneuploidy screening is performed for infertile patients going through in vitro fertilization to try to improve their pregnancy rate. A polymerase chain reaction is used for the diagnosis of single-gene disorders. Since the risk of contamination and allele dropout is high with a polymerase chain reaction, linked or unlinked markers are usually used in a fluorescent multiplex polymerase chain reaction. New techniques, for example comparative genomic hybridization, allow the analysis of all of the chromosomes from one cell at one time. The ethical implications of pre-implantation genetic diagnosis are immense as the technique has already been used for social sexing and human leukocyte antigen matching.