Preimplantation genetic testing

• Published in: BMJ (Online) 2012-09, Vol.345 (7875), p.38-43
• Main Authors: Brezina, Paul R, Brezina, Dawn S, Kearns, William G
• Format: Article
• Language: English
• Subjects: Aneuploidy; Biopsies; Biopsy; Chromosomes; CLINICAL REVIEW; Cystic fibrosis; Diagnostic Errors - prevention & control; Embryo Implantation - genetics; Embryos; Ethics; Fertilization in Vitro - ethics; Fertilization in Vitro - methods; Genetic Diseases, Inborn - prevention & control; Genetic screening; Genetic Testing - methods; Hemophilia; Human genetics; Humans; Huntingtons disease; In vitro fertilization; Mass Screening - methods; Medical genetics; Miscarriage; Parents & parenting; Patients; Population genetics; Pregnancy; Preimplantation Diagnosis - ethics; Preimplantation Diagnosis - methods; Risk Assessment; Screening tests
• ISSN: 0959-8138; 1756-1833; 1756-1833
• DOI: 10.1136/bmj.e5908

SUMMARY POINTS Preimplantation genetic (PG) testing is the practice of obtaining a cellular biopsy sample from a developing human oocyte or embryo, obtained via a cycle of in vitro fertilisation (IVF); evaluating the sample's genetic composition; and using this information to determine which embryos will be optimal for subsequent uterine transfer PG testing is divided into two broad categories: diagnosis and screening The purpose of PG diagnosis is to prevent the birth of affected children from parents with a known genetic abnormality, and is widely acknowledged as acceptable for routine clinical application The purpose of PG screening is to identify optimal embryos for uterine transfer in an IVF cycle and, in so doing, improve pregnancy success in certain patient populations; its routine clinical application remains controversial PG testing, especially with PG screening, might not always indicate the ultimate genetic status of the fetus As genetic diagnostic technology continues to advance, PG testing must be used in an ethical and equitable manner