Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges.

Abstract:

BACKGROUND:Genetic testing of preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Microarray technology is being introduced in both these contexts, and whole genome sequencing of blastomeres is also expeted to become possible soon. The amount of extra information such tests will yield may prove to be beneficial for embryo selection, will also raise various ethical issues. We present an overview of the developments and an agenda-setting exploration of the ethical issues. METHODS:The paper is a joint endeavour by the presenters at an explorative 'campus meeting' organized by the European Society of Human Reproduction and Embryology in cooperation with the department of Health, Ethics & Society of the Maastricht University (The Netherlands). RESULTS:The increasing amount and detail of information that new screening techniques such as microarrays and whole genome sequencing offer does not automatically coincide with an increasing understanding of the prospects of an embryo. From a technical point of view, the future of comprehensive embryo testing may go together with developments in preconception carrier screening. From an ethical point of view, the increasing complexity and amount of information yielded by comprehensive testing techniques will lead to challenges to the principle of reproductive autonomy and the right of the child to an open future, and may imply a possible larger responsibility of the clinician towards the welfare of the future child. Combinations of preconception carrier testing and embryo testing may solve some of these ethical questions but could introduce others. CONCLUSIONS:As comprehensive testing techniques are entering the IVF clinic, there is a need for a thorough rethinking of traditional ethical paradigms regarding medically assisted reproduction.

journal_name

Hum Reprod Update

authors

Hens K,Dondorp W,Handyside AH,Harper J,Newson AJ,Pennings G,Rehmann-Sutter C,de Wert G

doi

10.1093/humupd/dmt009

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

366-75

issue

4

eissn

1355-4786

issn

1460-2369

pii

dmt009

journal_volume

19

pub_type

杂志文章,评审
  • Leiomyomata: heritability and cytogenetic studies.

    abstract::Leiomyomata represent the most common gynaecological tumour in women of reproductive age, and are the primary indication for hysterectomy in the USA. Cytogenetic and genetic studies have, in recent years, advanced our understanding of the aetiology of these tumours. Cytogenetic aberrations involving chromosomes 6, 7, ...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/7.1.8

    authors: Ligon AH,Morton CC

    更新日期:2001-01-01 00:00:00

  • Physiological aspects and clinical sequelae of energy deficiency and hypoestrogenism in exercising women.

    abstract::Amenorrhoea associated with reduced caloric intake and strenuous exercise leads to hypoestrogenism and is associated with clinical manifestations that include disordered eating, stress fractures, osteoporosis, and, as recently reported, a potential increase in the risk of premature cardiovascular disease. Disordered e...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmh033

    authors: De Souza MJ,Williams NI

    更新日期:2004-09-01 00:00:00

  • Ultrasound of the male genital tract in relation to male reproductive health.

    abstract:BACKGROUND:Infertility affects ∼7% of all men. Despite much progress, mainly in genetics, its etiology remains obscure in ∼50% of cases. To fill this gap, imaging of the male genital tract (MGT) has progressively expanded, providing useful information in the assessment of MGT abnormalities. METHODS:A critical, systema...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmu042

    authors: Lotti F,Maggi M

    更新日期:2015-01-01 00:00:00

  • Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age.

    abstract::Mammalian oocytes begin meiosis in the fetal ovary, but only complete it when fertilized in the adult reproductive tract. This review examines the cell biology of this protracted process: from entry of primordial germ cells into meiosis to conception. The defining feature of meiosis is two consecutive cell divisions (...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmm043

    authors: Jones KT

    更新日期:2008-03-01 00:00:00

  • Management of first-trimester miscarriage: a systematic review and network meta-analysis.

    abstract:BACKGROUND:First-trimester miscarriage affects up to a quarter of women worldwide. With many competing treatment options available, there is a need for a comprehensive evidence synthesis. OBJECTIVES AND RATIONALE:We conducted a systematic review and network meta-analysis to assess the effectiveness and safety of treat...

    journal_title:Human reproduction update

    pub_type: 杂志文章,meta分析

    doi:10.1093/humupd/dmz002

    authors: H Al Wattar B,Murugesu N,Tobias A,Zamora J,Khan KS

    更新日期:2019-05-01 00:00:00

  • Long non-coding RNAs in human early embryonic development and their potential in ART.

    abstract:BACKGROUND:Human long non-coding RNAs (lncRNAs) are an emerging category of transcripts with increasingly documented functional roles during development. LncRNAs and roles during human early embryo development have recently begun to be unravelled. OBJECTIVE AND RATIONALE:This review summarizes the most recent knowledg...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmw035

    authors: Bouckenheimer J,Assou S,Riquier S,Hou C,Philippe N,Sansac C,Lavabre-Bertrand T,Commes T,Lemaître JM,Boureux A,De Vos J

    更新日期:2016-12-01 00:00:00

  • Hormonal contraception and risk of cancer.

    abstract:BACKGROUND:Fear from increased cancer risk is one of the most significant reasons for low acceptance of reliable contraceptive methods and low compliance. METHODS:In this review, we included all cohort and case-control studies published in English up to December 2008. They were identified through a search of the liter...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmq022

    authors: Cibula D,Gompel A,Mueck AO,La Vecchia C,Hannaford PC,Skouby SO,Zikan M,Dusek L

    更新日期:2010-11-01 00:00:00

  • Infertility and reproductive disorders: impact of hormonal and inflammatory mechanisms on pregnancy outcome.

    abstract:BACKGROUND:Reproductive disorders and infertility are associated with the risk of obstetric complications and have a negative impact on pregnancy outcome. Affected patients often require assisted reproductive technologies (ART) to conceive, and advanced maternal age is a further confounding factor. The challenge is to ...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmv044

    authors: Vannuccini S,Clifton VL,Fraser IS,Taylor HS,Critchley H,Giudice LC,Petraglia F

    更新日期:2016-01-01 00:00:00

  • The recent saga of cardiovascular disease and safety of oral contraceptives.

    abstract::This review presents detailed risk estimates from relevant epidemiological and other studies on the comparative safety of second and third generation oral contraceptives (OC). Written with the intention of presenting a repository of the available information, it also discourses briefly into the symptomatology and diag...

    journal_title:Human reproduction update

    pub_type: 历史文章,杂志文章,评审

    doi:10.1093/humupd/5.6.565

    authors: Edwards RG,Cohen J

    更新日期:1999-11-01 00:00:00

  • The predictive accuracy of anti-Müllerian hormone for live birth after assisted conception: a systematic review and meta-analysis of the literature.

    abstract:BACKGROUND:Anti-Müllerian hormone (AMH) is an established marker of ovarian reserve and a good predictor of poor or excessive ovarian response after controlled hyperstimulation. However, it is unclear whether it can predict the ultimate outcome of assisted conception, live birth. We undertook a systematic review and me...

    journal_title:Human reproduction update

    pub_type: 杂志文章,meta分析,评审

    doi:10.1093/humupd/dmu003

    authors: Iliodromiti S,Kelsey TW,Wu O,Anderson RA,Nelson SM

    更新日期:2014-07-01 00:00:00

  • AMH and AMH receptor defects in persistent Müllerian duct syndrome.

    abstract::Anti-Müllerian hormone (AMH) produced by fetal Sertoli cells is responsible for regression of Müllerian ducts, the anlage for uterus and Fallopian tubes, during male sex differentiation. A member of the transforming growth factor-beta superfamily, AMH signals through two transmembrane receptors, type II which is speci...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmi014

    authors: Josso N,Belville C,di Clemente N,Picard JY

    更新日期:2005-07-01 00:00:00

  • Protamines and male infertility.

    abstract::Protamines are the major nuclear sperm proteins. The human sperm nucleus contains two types of protamine: protamine 1 (P1) encoded by a single-copy gene and the family of protamine 2 (P2) proteins (P2, P3 and P4), all also encoded by a single gene that is transcribed and translated into a precursor protein. The protam...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dml009

    authors: Oliva R

    更新日期:2006-07-01 00:00:00

  • Access to and sustainability of abortion services: a systematic review and meta-analysis for the National Institute of Health and Care Excellence-new clinical guidelines for England.

    abstract:BACKGROUND:Induced abortion is a common procedure. However, there is marked variation in accessibility of services across England. Accessing abortion services may be difficult, particularly for women who live in remote areas, are in the second trimester of pregnancy, have complex pre-existing conditions or have difficu...

    journal_title:Human reproduction update

    pub_type: 杂志文章

    doi:10.1093/humupd/dmaa026

    authors: O'Shea LE,Hawkins JE,Lord J,Schmidt-Hansen M,Hasler E,Cameron S,Cameron IT

    更新日期:2020-11-01 00:00:00

  • Smoking and reproduction: gene damage to human gametes and embryos.

    abstract::Assisted conception is a useful methodology for detecting disturbances in clinical outcome, meiotic maturation, and genetic integrity of human gametes. Germinal cells are vulnerable to genetic damage from smoking, but can repair damage during meiosis. In ejaculated spermatozoa, repair capacity declines drastically. Sm...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/6.2.122

    authors: Zenzes MT

    更新日期:2000-03-01 00:00:00

  • Varicocele--the most common cause of male factor infertility?

    abstract::Varicocele is often cited as the most common cause of male factor infertility. Arguments in support of this statement include reports of increased prevalence of varicocele in populations of infertile men compared with fertile or otherwise unselected men, association of varicocele with abnormal semen parameters, and im...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/8.1.53

    authors: Redmon JB,Carey P,Pryor JL

    更新日期:2002-01-01 00:00:00

  • In vitro bioassays for androgens and their diagnostic applications.

    abstract::Androgen levels are measured in today's clinical practice almost exclusively by immunoassays. The androgen that is most frequently determined is testosterone (T), but sometimes also the levels of other testicular, ovarian and adrenal androgens such as 5alpha-dihydrotestosterone, androstenedione, dehydroepiandrosterone...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmm038

    authors: Roy P,Alevizaki M,Huhtaniemi I

    更新日期:2008-01-01 00:00:00

  • Ovarian tissue cryopreservation and transplantation: preliminary findings and implications for cancer patients.

    abstract::Cancer treatment modalities are increasingly more effective in achieving complete remission and cure. Aggressive chemotherapy and radiotherapy, as well as bone marrow transplantation, results in >90% cure in many cancers of children and young women. As a result of this success however, a new problem has arisen. Many y...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/7.6.526

    authors: Oktay K

    更新日期:2001-11-01 00:00:00

  • Characterization of the ovarian transcriptome through the use of differential analysis of gene expression methodologies.

    abstract::Prior to the development of high-throughput methods for the analysis of differential gene expression, genes required for proper ovarian function were identified on a case-by-case basis. Recently, however, several techniques have been developed that enable investigators to study large-scale changes in gene expression u...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmh017

    authors: Hennebold JD

    更新日期:2004-05-01 00:00:00

  • Assisted reproduction practice in Europe: legal and ethical aspects.

    abstract::This report describes the ethical and legal aspects of assisted reproductive technologies (ART) that have been instituted in European countries. The data were collected from questionnaires circulated to fertility centres in 39 countries in Europe. Ninety six ART centres were located in 30 of these countries. Nine coun...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/3.2.173

    authors: Schenker JG

    更新日期:1997-03-01 00:00:00

  • Adjuvant treatment strategies in ovarian stimulation for poor responders undergoing IVF: a systematic review and network meta-analysis.

    abstract:BACKGROUND:Despite great advances in assisted reproductive technology, poor ovarian response (POR) is still considered as one of the most challenging tasks in reproductive medicine. OBJECTIVE AND RATIONALE:The aim of this systemic review is to evaluate the role of different adjuvant treatment strategies on the probabi...

    journal_title:Human reproduction update

    pub_type: 杂志文章,meta分析

    doi:10.1093/humupd/dmz046

    authors: Zhang Y,Zhang C,Shu J,Guo J,Chang HM,Leung PCK,Sheng JZ,Huang H

    更新日期:2020-02-28 00:00:00

  • Current and future status of ovulation induction in polycystic ovary syndrome.

    abstract::Great progress had been achieved during the last 20 years in the field of ovulation induction in patients with polycystic ovary syndrome (PCOS). Clomiphene citrate remains the first line of treatment for all anovulatory women with PCOS, since in properly selected patients the cumulative pregnancy rate approaches that ...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/3.3.235

    authors: Messinis IE,Milingos SD

    更新日期:1997-05-01 00:00:00

  • Relationships between the developmental potential of human in-vitro fertilization embryos and features describing the embryo, oocyte and follicle.

    abstract::This paper investigates the relationship of features of in-vitro fertilization (IVF) embryos and the associated oocyte and follicle to the outcome of transfer. It differs from previous studies in including a range of features (n = 53) and in using class probability tree analysis. This is a non-parametric multivariate ...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/4.2.121

    authors: Saith RR,Srinivasan A,Michie D,Sargent IL

    更新日期:1998-03-01 00:00:00

  • Changes in basement membrane thickness in the human endometrium during the luteal phase of the menstrual cycle.

    abstract::We have examined aspects of the fine structure of the basal laminae associated with the luminal and glandular epithelium and small blood vessels in the human endometrium. Four short studies are presented and reviewed. Study 1 examined biopsies from 20 fertile women taken on days after the luteinizing hormone surge (LH...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/4.5.486

    authors: Dockery P,Khalid J,Sarani SA,Bulut HE,Warren MA,Li TC,Cooke ID

    更新日期:1998-09-01 00:00:00

  • The response of adenomyosis to endometrial ablation/resection.

    abstract::Operative hysteroscopy is a relatively new technique that has significantly improved the diagnosis and therapy of abnormal uterine bleeding. At first, the success of operative hysteroscopy in controlling this bleeding seemed extremely high but, with long-term follow-up, a significant failure rate became evident requir...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/4.4.350

    authors: McCausland V,McCausland A

    更新日期:1998-07-01 00:00:00

  • Can developmentally significant spatial patterning of the egg be discounted in mammals?

    abstract::Mammals are generally held to be exceptions to the rule that organization of the egg plays a role in specifying the differentiation of cells, axes, or other aspects of patterning in the early embryo. However, there are several grounds for questioning this conclusion. Not only do certain experimental findings remain un...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/2.1.3

    authors: Gardner RL

    更新日期:1996-01-01 00:00:00

  • The role of decidual cells in uterine hemostasis, menstruation, inflammation, adverse pregnancy outcomes and abnormal uterine bleeding.

    abstract:BACKGROUND:Human pregnancy requires robust hemostasis to prevent hemorrhage during extravillous trophoblast (EVT) invasion of the decidualized endometrium, modification of spiral arteries and post-partum processes. However, decidual hemorrhage (abruption) can occur throughout pregnancy from poorly transformed spiral ar...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/dmw004

    authors: Schatz F,Guzeloglu-Kayisli O,Arlier S,Kayisli UA,Lockwood CJ

    更新日期:2016-06-01 00:00:00

  • Laparoscopic procedures for treatment of infertility related to polycystic ovarian syndrome.

    abstract::The use of laparoscopic techniques for the treatment of polycystic ovarian syndrome (PCOS) has included many different approaches in the 1980s and 90s. Broadly similiar results have been obtained using biopsy, cauterization, multi-electrocoagulation and laser surgery; i.e. > 50% ovulation and a mean pregnancy rate of ...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/2.4.337

    authors: Cohen J

    更新日期:1996-07-01 00:00:00

  • Modern surgical approaches to female reproductive tract.

    abstract::Laparoscopic and hysteroscopic surgery have changed the management of many gynaecological disorders. Procedures that previously required a long duration of hospitalization can now be done on an outpatient basis or with a short hospital stay. Surgical treatment remains the definitive and universal treatment of ectopic ...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/2.5.419

    authors: Tulandi T

    更新日期:1996-09-01 00:00:00

  • Recurrent pregnancy loss: diagnostic workup after two or three pregnancy losses? A systematic review of the literature and meta-analysis.

    abstract:BACKGROUND:Recurrent pregnancy loss (RPL) occurs in 1-3% of all couples trying to conceive. No consensus exists regarding when to perform testing for risk factors in couples with RPL. Some guidelines recommend testing if a patient has had two pregnancy losses whereas others advise to test after three losses. OBJECTIVE...

    journal_title:Human reproduction update

    pub_type: 杂志文章,meta分析

    doi:10.1093/humupd/dmz048

    authors: van Dijk MM,Kolte AM,Limpens J,Kirk E,Quenby S,van Wely M,Goddijn M

    更新日期:2020-04-15 00:00:00

  • Mouse genetics provides insight into folliculogenesis, fertilization and early embryonic development.

    abstract::After colonization of the gonad, mouse female germ cells enter into the prophase of the first meiotic division as a mid-gestational hallmark of gender. Perinatally, oocytes interact with granulosa cells to form primordial follicles which, with cyclic periodicity, enter into a 3-week growth phase that culminates in mei...

    journal_title:Human reproduction update

    pub_type: 杂志文章,评审

    doi:10.1093/humupd/8.5.395

    authors: Amleh A,Dean J

    更新日期:2002-09-01 00:00:00