Preimplantation genetic diagnosis

Preimplantation genetic diagnosis. Pensée Wu, Margo L. Whiteford, Alan D. Cameron; Obstetrics, Gynaecology & Reproductive Medicine, Volume 24, Issue 3, March 2014, Pages 67-73, ISSN 1751-7214, http://dx.doi.org/10.1016/j.ogrm.2014.01.003.

Keywords: in vitro fertilization; preimplantation genetic diagnosis; preimplantation genetic screening.

In the case of an autosomal recessive disorder, there is a one in four chance of an affected child with carrier parents. Most couples only become aware that both partners have a pathological mutation following clinical diagnosis and genetic testing of an affected child. Common PGD indication for autosomal recessive disorder is Friedreich's ataxia.