Preimplantation genetics

Joy Delhanty, Dagan Wells
In: Preimplantation Genetic Diagnosis · 2009 · pp. 137–150 · doi:10.1017/cbo9780511581571.008 · W4242520712
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This paper reviews preimplantation genetics and IVF indications, noting that endometriosis is among the conditions treated by assisted conception technologies alongside unexplained infertility and male infertility.

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This chapter reviews the high frequency of cytogenetic abnormalities in human oocytes and embryos, noting that chromosomal imbalance often results from chromatid loss or gain influenced by maternal age and chiasmata location. It highlights that while aneuploidy is a major cause of congenital abnormalities and miscarriage, most detected chromosome abnormalities are likely lethal at early embryonic stages and incompatible with clinical pregnancy. Consequently, many fertility clinics now utilize preimplantation genetic screening during IVF cycles to identify chromosomally normal embryos, which may improve outcomes for patients undergoing assisted reproductive technologies. The paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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Abstract

In vitro fertilization (IVF) was initially developed to treat patients with damaged Fallopian tubes. IVF treatment has since been extended far beyond tubal infertility to treat a whole host of indications, including unexplained infertility, endometriosis, and male infertility. Infertility treatments include timed intercourse, ovulation induction, intrauterine insemination (IUI), gamete intrafallopian transfer (GIFT), zygote intrafallopian transfer (ZIFT), IVF, and intracytoplasmic sperm injection (ICSI). Standard stimulation protocols require pituitary desensitization with a GnRH agonist, and this strategy has become almost a universal practise in assisted conception clinics with the induced hypogonadotropic hypogonadism enabling almost complete control over follicular development. The presence of endometrial polyps, submucous fibroids, and intrauterine adhesions may be associated with reduction in pregnancy rates and increase in risk of miscarriage with IVF. Cryopreservation of supernumerary good-quality embryos is vital to optimize pregnancy rates per cycle started without the need to superovulate the patient again.
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- Preimplantation Genetic Diagnosis - Preimplantation Genetic Diagnosis - Copyright page - Contents - Contributors - Preface - Section 1 Background - Chapter 1 Introduction to preimplantation genetic diagnosis - Chapter 2 Assisted reproductive technologies - Chapter 3 Genetic basis of inherited disease - Chapter 4 Genetic counseling - Prenatal screening and diagnosis - Chapter 6 Preimplantation embryo development - Chapter 7 Preimplantation genetics - Section 2 Procedures used in preimplantation genetic diagnosis - Section 3 Ethics and the future - Index from Section 1 - Background Published online by Cambridge University Press: 09 November 2009 Edited by Book contents - Preimplantation Genetic Diagnosis - Preimplantation Genetic Diagnosis - Copyright page - Contents - Contributors - Preface - Section 1 Background - Chapter 1 Introduction to preimplantation genetic diagnosis - Chapter 2 Assisted reproductive technologies - Chapter 3 Genetic basis of inherited disease - Chapter 4 Genetic counseling - Prenatal screening and diagnosis - Chapter 6 Preimplantation embryo development - Chapter 7 Preimplantation genetics - Section 2 Procedures used in preimplantation genetic diagnosis - Section 3 Ethics and the future - Index A number of research and clinical studies have confirmed high frequency of cytogenetic abnormalities in human oocytes and embryos. Chromosomal imbalance in oocytes can result from loss or gain of individual chromatids or whole chromosomes. The underlying causes remain to be fully elucidated, but important modifying factors include the number and location of chiasmata and maternal age. Aneuploidy is a major cause of congenital abnormalities, mental retardation, and miscarriage. However, most of the chromosome abnormalities detected in human embryos are likely to be lethal at very early embryonic stages, and are probably incompatible with the formation of a clinical pregnancy. Many fertility clinics now screen the embryos produced during in vitro fertilization (IVF) cycle in order to identify those that are chromosomally normal. Screening the oocytes/embryos from these patients for aneuploidy using PGS may be particularly beneficial in terms of IVF outcome. - Type - Chapter - Information - Preimplantation Genetic Diagnosis , pp. 137 - 150Publisher: Cambridge University PressPrint publication year: 2009 Accessibility compliance for the HTML of this chapter is currently unknown and may be updated in the future. To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle. Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply. Find out more about the Kindle Personal Document Service. - Preimplantation genetics - - Book: Preimplantation Genetic Diagnosis - Online publication: 09 November 2009 To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox. - Preimplantation genetics - - Book: Preimplantation Genetic Diagnosis - Online publication: 09 November 2009 To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive. - Preimplantation genetics - - Book: Preimplantation Genetic Diagnosis - Online publication: 09 November 2009

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endometriosisinfertility

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