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Rapid protocol for pre‐conception genetic diagnosis of single gene mutations by first polar body analysis: a possible solution for the Italian patients

Rapid protocol for pre‐conception genetic diagnosis of single gene mutations by first polar body... RESEARCH LETTER Rapid protocol for pre-conception genetic diagnosis of single gene mutations by first polar body analysis: a possible solution for the Italian patients F. Fiorentino1,2 *, A. Biricik1 , A. Nuccitelli2 , R. De Palma2 , S. Kahraman3 , S. Sertyel3 , H. Karadayi3 , G. Cottone2 , M. Baldi1,2 , D. Caserta4 and M. Moscarini4 EmbryoGen—Centre for Preimplantation Genetic Diagnosis, Via Po, 102 00198 Rome, Italy “GENOMA”- Molecular Genetics Laboratory, Via Po, 102 00198 Rome, Italy 3 ART and Reproductive Genetics Unit, Istanbul Memorial Hospital, Istanbul, Turkey 4 University of Rome “La Sapienza”—Department of Gynaecological Science, Perinatology and Child Care, S. Andrea Hospital, via di Grottarossa, 1035 00189 Rome, Italy KEY WORDS: first polar body; Italian regulation; multiplex PCR; pre-conception genetic diagnosis; preimplantation genetic diagnosis Pre-implantation genetic diagnosis (PGD) (Handyside et al., 1990) has become an established clinical approach for prevention of genetic disorders. Today it represents an important complement to traditional prenatal diagnosis, offering couples who have a known genetically transmittable disorder the option to diagnose the specific disease on embryos before a clinical pregnancy has been established. PGD is usually performed by testing single blastomeres removed from cleavage-stage embryos (6–8 cell). An alternative approach http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Prenatal Diagnosis Wiley

Rapid protocol for pre‐conception genetic diagnosis of single gene mutations by first polar body analysis: a possible solution for the Italian patients

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References (10)

Publisher
Wiley
Copyright
Copyright © 2007 John Wiley & Sons, Ltd.
ISSN
0197-3851
eISSN
1097-0223
DOI
10.1002/pd.1905
pmid
18058979
Publisher site
See Article on Publisher Site

Abstract

RESEARCH LETTER Rapid protocol for pre-conception genetic diagnosis of single gene mutations by first polar body analysis: a possible solution for the Italian patients F. Fiorentino1,2 *, A. Biricik1 , A. Nuccitelli2 , R. De Palma2 , S. Kahraman3 , S. Sertyel3 , H. Karadayi3 , G. Cottone2 , M. Baldi1,2 , D. Caserta4 and M. Moscarini4 EmbryoGen—Centre for Preimplantation Genetic Diagnosis, Via Po, 102 00198 Rome, Italy “GENOMA”- Molecular Genetics Laboratory, Via Po, 102 00198 Rome, Italy 3 ART and Reproductive Genetics Unit, Istanbul Memorial Hospital, Istanbul, Turkey 4 University of Rome “La Sapienza”—Department of Gynaecological Science, Perinatology and Child Care, S. Andrea Hospital, via di Grottarossa, 1035 00189 Rome, Italy KEY WORDS: first polar body; Italian regulation; multiplex PCR; pre-conception genetic diagnosis; preimplantation genetic diagnosis Pre-implantation genetic diagnosis (PGD) (Handyside et al., 1990) has become an established clinical approach for prevention of genetic disorders. Today it represents an important complement to traditional prenatal diagnosis, offering couples who have a known genetically transmittable disorder the option to diagnose the specific disease on embryos before a clinical pregnancy has been established. PGD is usually performed by testing single blastomeres removed from cleavage-stage embryos (6–8 cell). An alternative approach

Journal

Prenatal Diagnosis – Wiley

Published: Jan 1, 2008

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