title: Preimplantation genetic diagnosis of chromosomal abnormalities by multicolour fluorescence in situ hybridisation.
abstract: Preimplantation genetic diagnosis (PGD) is an early diagnosis of genetic disorders, prior to the onset of pregnancy. PGD incorporates the latest techniques in assisted reproduction and molecular genetics. Embryos or oocytes are biopsied during culture in vitro and genetic analysis is carried out on the blastomeres or polar bodies. Embryos shown to be free of the genetic disease under investigation are transferred to the uterus. Multicolour fluorescence in situ hybridisation (FISH) is used to diagnose numerical and certain structural abnormalities of chromosomes in the embryo. The common probes used are for chromosomes 13, 18, 21, X and Y. FISH can also be used for PGD of translocations, when one of the parents is a carrier. PGD was carried out recently in 4 cases using multicolour FISH. In one of the embryos, trisomy 18 was detected. Tetraploidy was seen in another embryo. Only chromosomally normal embryos were transferred back to the uterus. Care has to be taken while interpreting FISH signals as the signal may be split, diffused, superimposed or in a different focus.
authors.affiliation: Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Center, Mumbai.
authors.forename: F R
authors.initials: FR
authors.lastname: Parikh
authors.forename: P F
authors.initials: PF
authors.lastname: Madon
authors.forename: A S
authors.initials: AS
authors.lastname: Athalye
authors.forename: N J
authors.initials: NJ
authors.lastname: Naik
authors.forename: S D
authors.initials: SD
authors.lastname: Gada
authors.forename: K N
authors.initials: KN
authors.lastname: Ganla
authors.forename: S G
authors.initials: SG
authors.lastname: Nadkarni
authors.forename: A S
authors.initials: AS
authors.lastname: Patki
authors.forename: S S
authors.initials: SS
authors.lastname: Khot
mesh_terms: D001757:Blastomeres; D002869:Chromosome Aberrations; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D011446:Prospective Studies; D012680:Sensitivity and Specificity