Elpida Fragouli1. 1. Department of Obstetrics and Gynecology, Yale University Medical School, 300 George Street, Suite 770, New Haven, CT 06511, USA. ef242@email.med.yale.edu
Abstract
PURPOSE: Preimplantation genetic diagnosis (PGD) was developed more than a decade ago and aims to identify embryos free of genetic disease attributed either to gene mutations or chromosome errors. The purpose of this article is to provide an update on the current status and future prospects of PGD. METHODS: Review of studies employing different strategies for the detection of single gene defects, and chromosome abnormalities, both structural and numerical in the context of PGD. RESULTS: Amplification of several DNA fragments is feasible via multiplex PCR for the PGD of single gene disorders, whilst current FISH protocols employ up to 10 probes to identify embryos with a normal chromosome complement. New methods are being developed which will enable the assessment of the entire chromosome complement of embryonic blastomeres. CONCLUSIONS: PGD has come a long way since its first application, and has become very accurate and reliable. Technical advances in the field of preimplantation genetics mean that PGD holds great promise for the future.
PURPOSE: Preimplantation genetic diagnosis (PGD) was developed more than a decade ago and aims to identify embryos free of genetic disease attributed either to gene mutations or chromosome errors. The purpose of this article is to provide an update on the current status and future prospects of PGD. METHODS: Review of studies employing different strategies for the detection of single gene defects, and chromosome abnormalities, both structural and numerical in the context of PGD. RESULTS: Amplification of several DNA fragments is feasible via multiplex PCR for the PGD of single gene disorders, whilst current FISH protocols employ up to 10 probes to identify embryos with a normal chromosome complement. New methods are being developed which will enable the assessment of the entire chromosome complement of embryonic blastomeres. CONCLUSIONS: PGD has come a long way since its first application, and has become very accurate and reliable. Technical advances in the field of preimplantation genetics mean that PGD holds great promise for the future.
Authors: E Iwarsson; L Ahrlund-Richter; J Inzunza; B Rosenlund; M Fridström; T Hillensjö; P Sjöblom; M Nordenskjöld; E Blennow Journal: Mol Hum Reprod Date: 1998-07 Impact factor: 4.025
Authors: S Rechitsky; C Strom; O Verlinsky; T Amet; V Ivakhnenko; V Kukharenko; A Kuliev; Y Verlinsky Journal: J Assist Reprod Genet Date: 1998-05 Impact factor: 3.412
Authors: E Iwarsson; L Ahrlund-Richter; J Inzunza; M Fridström; B Rosenlund; T Hillensjö; P Sjöblom; M Nordenskjöld; E Blennow Journal: Mol Hum Reprod Date: 1998-09 Impact factor: 4.025
Authors: Roland Stengl; András Bors; Bence Ágg; Miklós Pólos; Gabor Matyas; Mária Judit Molnár; Bálint Fekete; Dóra Csabán; Hajnalka Andrikovics; Béla Merkely; Tamás Radovits; Zoltán Szabolcs; Kálmán Benke Journal: Orphanet J Rare Dis Date: 2020-10-15 Impact factor: 4.123