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Kuliev A.,Reproductive Genetics Institute
Practical Preimplantation Genetic Diagnosis | Year: 2013

Although treatment remains the major goal in the control of genetic disease, this is not yet a reality for most inherited conditions. In the absence of radical treatment, preimplantation genetic diagnosis (PGD) offers the answer to the control of these inherited conditions by predicting reproductive outcome. PGD is now entering its third decade as an established procedure for genetic and assisted reproduction practices, with new and exciting developments changing the whole concept of prevention of congenital disorders. The availability of practical experience from tens of thousands of PGD cases makes it necessary to update the current information on its accuracy, reliability and safety. The Second Edition of this successful book updates the progress in prevention of genetic disorders to demonstrate the important place of PGD in primary preventive measures and its increasing role in providing the whole range of reproduction options to couples at risk. In addition, it provides an extensive review of the most recent developments within the field of PGD including, PGD for expanding indications such as de novo mutations, cancers, inherited cardiac diseases and combined PGD for single gene disorders, HLA typing and 24 chromosome testing in patients of advance reproductive age. This practical book is vital for all practitioners within the field of fertility, reproductive medicine and medical genetics. It will also be useful for those responsible for planning and organizing PGD services and provides a working manual for the establishment and performance of PGD in the framework of IVF and genetic practices. © Springer-Verlag London 2012.

Kuliev A.,Reproductive Genetics Institute
Expert Review of Obstetrics and Gynecology | Year: 2011

Preimplantation genetic diagnosis (PGD) was introduced more than 20 years ago and represents an established clinical procedure in assisted reproduction and genetic practices. This is now a reality that couples at genetic risk have a practical option to reproduce with less fear of producing offspring with genetic disorders. PGD has presently been applied to more than 220 different genetic disorders, with an over 99% accuracy rate in leading PGD centers. Its application has been expanding beyond traditional indications and includes some conditions determined by de novo mutations, common disorders with genetic predisposition, and HLA typing - with or without testing for causative genes. Despite recent controversy regarding the usefulness of PGD for assisted reproduction, the current developments in aneuploidy testing by microarray technology may improve preimplantation aneuploidy testing for the preselection of embryos with higher developmental potential, which is still the major challenge in improving IVF. This also makes it possible to combine the testing for different indications in one comprehensive procedure involving aneuploidy testing for 24 chromosomes, together with PGD for translocations, single-gene disorders and preimplantation HLA typing. This article describes these expanding applications of PGD, which are gradually becoming an integral part of prenatal care and assisted reproduction. © 2011 Expert Reviews Ltd.

Tur-Kaspa I.,Institute for Human Reproduction IHR | Tur-Kaspa I.,Reproductive Genetics Institute | Tur-Kaspa I.,University of Chicago
Seminars in Reproductive Medicine | Year: 2012

Patients who undergo in vitro fertilization (IVF) because of preimplantation genetic diagnosis (PGD) require different clinical management than those who come in because of infertility alone. PGD adds a "fourth dimensiono" to the emotional aspect of a patients' assisted reproductive technology treatment. It significantly decreases the number of embryos available for transfer by 25 to 81%, and therefore ovarian stimulation for IVF with PGD should be tailored individually, taking into account patients' safety and estimated ovarian reserve. Recent studies showed that with increased number of oocytes retrieved, the higher the chance to have an embryo transfer and normal cryopreserved blastocysts. With adequate ovarian stimulation, there is no cutoff for the numbers of oocytes/embryos needed to start PGD with, especially for younger patients. Patient-friendly protocols, such as those based on gonadotropin-releasing hormone antagonist and vaginal progesterone support may be used. Elective single embryo transfer and blastocysts cryopreservation to avoid multiple pregnancies may be offered with PGD. The benefit of adding preimplantation genetic screening to IVF treatment is still controversial, and evidence-based data on 24-chromosome testing of polar bodies or trophectoderm is needed before it may be implemented into routine patient care. This review discusses the clinical management of IVF with PGD based on the best available data and my personal clinical experience as a reproductive specialist with >1000 IVF/intracytoplasmic sperm injection-PGD cycles. The information provided here will assist reproductive specialists, nurses, geneticists, genetic counselors, and embryologists to better counsel and treat couples who wish to conceive with a healthy child through IVF with PGD. It is time for PGD to be viewed as a modern modality of preventive medicine. As such, it should be incorporated into national health-care systems and be covered by medical insurance. Copyright © 2012 by Thieme Medical Publishers, Inc.

Kuliev A.,Reproductive Genetics Institute | Rechitsky S.,Reproductive Genetics Institute
Molecular Human Reproduction | Year: 2011

Introduced > 20 years ago, the use of polar bodies (PBs), involving sequential removal and genetic analysis of the first (PB1) and second (PB2) PB, provides the option for pre-embryonic diagnosis, when the objection to the embryo biopsy procedures makes preimplantation genetic diagnosis (PGD) non-applicable. PB-based approach has presently been utilized in PGD for genetic and chromosomal disorders, applied either separately, or together with embryo biopsy approaches, especially if there are two or more PGD indications. We present here the world's largest experience of 938 PGD cycles for single-gene disorders performed by PB testing for 146 different monogenic conditions, which resulted in the birth of 345 healthy children (eight pregnancies are still ongoing), providing strong evidence that PBbased PGD is a reliable and safe procedure, with an extremely high accuracy rate of over 99%. With application of microarray technology, PB-based approach will be utilized for increasing number of indications, involving simultaneous testing for 24 chromosomes and single-gene disorders. © The Author 2011. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.

Rechitsky S.,Reproductive Genetics Institute | Verlinsky O.,Reproductive Genetics Institute | Kuliev A.,Reproductive Genetics Institute
Reproductive BioMedicine Online | Year: 2013

Preimplantation genetic diagnosis (PGD) for inherited disorders is presently applied for more than 300 different conditions. The most frequent PGD indication is cystic fibrosis (CF), the largest series of which is reviewed here, totalling 404 PGD cycles. This involved testing for 52 different CFTR mutations with almost half of the cases (195/404 cycles) performed for ΔF508 mutation, one-quarter (103/404 cycles) for six other frequent mutations and only a few for the remaining 45 CFTR mutations. There were 44 PGD cycles performed for 25 CF-affected homozygous or double-heterozygous CF patients (18 male and seven female partners), which involved testing simultaneously for three mutations, resulting in birth of 13 healthy CF-free children and no misdiagnosis. PGD was also performed for six couples at a combined risk of producing offspring with CF and another genetic disorder. Concomitant testing for CFTR and other mutations resulted in birth of six healthy children, free of both CF and another genetic disorder in all but one cycle. A total of 96 PGD cycles for CF were performed with simultaneous aneuploidy testing, including microarray-based 24-chromosome analysis, as a comprehensive PGD for two or more conditions in the same biopsy material. © 2013, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

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