Abstract:
:Massively parallel genome sequencing, also known as next-generation sequencing (NGS), is the latest approach for preimplantation genetic diagnosis. The purpose of this study was to determine whether NGS can accurately detect aneuploidy in human embryos. Low coverage genome sequencing was applied to trophectoderm biopsies of embryos at the blastocyst stage of development. Sensitivity and specificity of NGS was determined by comparison of results with a previously validated platform, array-comparative genomic hybridization (aCGH). In total, 156 samples (116 were blindly assessed) were tested: 40 samples were re-biopsies of blastocysts where the original biopsy specimen was previously tested for aCGH; four samples were re-biopsies of single blastomeres from embryos previously biopsied at the cleavage stage and tested using aCGH; 18 samples were single cells derived from well-characterized cell lines; 94 samples were whole-genome amplification products from embryo biopsies taken from previous preimplantation genetic screening cycles analysed using aCGH. Per embryo, NGS sensitivity was 100% (no false negatives), and 100% specificity (no false positives). Per chromosome, NGS concordance was 99.20%. With more improvement, NGS will allow the simultaneous diagnosis of single gene disorders and aneuploidy, and may have the potential to provide more detailed insight into other aspects of embryo viability.
journal_name
Reprod Biomed Onlinejournal_title
Reproductive biomedicine onlineauthors
Kung A,Munné S,Bankowski B,Coates A,Wells Ddoi
10.1016/j.rbmo.2015.09.002subject
Has Abstractpub_date
2015-12-01 00:00:00pages
760-9issue
6eissn
1472-6483issn
1472-6491pii
S1472-6483(15)00431-9journal_volume
31pub_type
杂志文章abstract::This study aimed to investigate how hyperandrogenism affects early folliculogenesis. Hyperandrogenism was induced in prepuberal female BALB/c mice by daily s.c. injection of dehydroepiandrosterone (60 mg/kg body weight in 0.1 ml sesame oil) for 10 consecutive days. Although hyperandrogenism increased the growth rate o...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2010.02.012
更新日期:2010-06-01 00:00:00
abstract:RESEARCH QUESTION:Does the time interval between the last gonadotrophin-releasing hormone (GnRH) antagonist dose and the GnRH agonist trigger affect the efficacy of the trigger in IVF treatments? DESIGN:This retrospective cohort study involved 53 normogonadotrophic patients undergoing GnRH antagonist-based IVF cycles,...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2020.08.004
更新日期:2020-11-01 00:00:00
abstract::The mammalian oocyte is especially sensitive to cryopreservation. Because of its size and physiology, it can easily undergo cell death or sub-lethal damage as a consequence of intracellular ice formation, increase in the concentration of solutes and other undesired effects during the conversion of extracellular water ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/s1472-6483(10)60687-6
更新日期:2007-07-01 00:00:00
abstract::Endometrial receptivity is a prerequisite for blastocyst implantation. During receptivity, the hairy-like epithelial cell microvilli transiently fuse to a single flower-like membrane projection called the 'pinopode'. Scanning electron microscopy in sequential endometrial biopsies shows that pinopodes appear about 1 we...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/s1472-6483(12)60111-4
更新日期:2002-01-01 00:00:00
abstract::Advances in preimplantation genetic diagnosis (PGD) are occurring worldwide. New clinics specializing in this approach to the control of disease genes or imbalanced chromosome numbers in human preimplantation embryos continue to increase. One exception is Japan, where the Japanese Society of Obstetrics and Gynecology ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)62138-4
更新日期:2004-09-01 00:00:00
abstract::The revolutionary development of biotechnology-derived therapeutic proteins has provided the expected improvements in quality, purity and consistency, as demonstrated in recombinant human FSH (rhFSH). However, the development of urine-derived gonadotrophins has not always shown comparable improvements. More recently, ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60613-x
更新日期:2006-08-01 00:00:00
abstract::This retrospective study investigated whether mid-luteal serum progesterone concentrations are associated with live birth rates in women with WHO group II anovulatory infertility undergoing ovulation induction. Data were from women (n=335) stimulated with gonadotrophins using a low-dose step-up protocol, of which wome...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2011.01.006
更新日期:2011-05-01 00:00:00
abstract::Multifetal pregnancy reduction (MPR) is an accepted method of reducing complications of triplet pregnancies and higher-order multifetal pregnancies. Eighty-three pregnancies that underwent early (68 weeks) transvaginal MPR were compared with 125 pregnancies that underwent late (11-14 weeks) transabdominal MPR. Rates o...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2016.08.015
更新日期:2016-11-01 00:00:00
abstract::The transvaginal approach to tubo-ovarian surgery allows easy and direct access to the tubo-ovarian structures and the fossa ovarica without additional manipulation. In the absence of a panoramic view, the proximity of the tubo-ovarian structures allows operative procedures for treatment of superficial and cystic ovar...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/s1472-6483(12)60121-7
更新日期:2002-01-01 00:00:00
abstract::The relationship between endogenous LH concentrations and ongoing pregnancy rates among normogonadotrophic patients undergoing ovarian stimulation in a gonadotrophin-releasing hormone antagonist protocol were examined. In the Engage trial, 1506 patients received corifollitropin alfa (150 μg) or daily recombinant FSH (...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.rbmo.2011.06.015
更新日期:2011-10-01 00:00:00
abstract::Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a fatal autosomal recessive metabolic disorder, presenting during infancy. Preimplantation genetic diagnosis (PGD) provides an option for establishing an unaffected pregnancy, avoiding the risk for termination of pregnancy following prenatal diagnosis. T...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)62183-9
更新日期:2001-01-01 00:00:00
abstract::Participation in external quality control (EQC) programmes is recommended by various scientific societies. Results from an EQC programme for embryology laboratories are presented. This 5-year programme consisted of the annual delivery of (i) materials to test toxicity and (ii) a DVD/CD-ROM with images of zygotes and e...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2009.09.033
更新日期:2010-01-01 00:00:00
abstract::This is a commentary on the personal account of Jane Everywoman. It reflects on her experiences and thoughts. The author adds context from her own work with the Progress Educational Trust, the Daisy Network Premature Menopause Support Group and the National Infertility Awareness Campaign. Examples of the mixed message...
journal_title:Reproductive biomedicine online
pub_type: 评论,杂志文章
doi:10.1016/j.rbmo.2013.03.019
更新日期:2013-07-01 00:00:00
abstract:RESEARCH QUESTION:Does music therapy help in reducing pain and anxiety in women undergoing transvaginal ultrasound-guided oocyte retrieval (TUGOR)? DESIGN:In this randomized controlled open label study, 209 participants were recruited and randomized into three groups (music group, n = 70; headphone group, n = 70; cont...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.rbmo.2018.04.049
更新日期:2018-08-01 00:00:00
abstract::This article reports the results from a study of couples participating in a research protocol in which IVF/preimplantation genetic diagnosis (PGD) was available for non-medical sex selection. The study sought to characterize the moral attitudes and beliefs of couples actively pursuing IVF/PGD solely for purposes relat...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2010.09.009
更新日期:2010-12-01 00:00:00
abstract::Active immunization of proven fertile adult male bonnet monkeys (Macaca radiata) with phage-expressed follicle-stimulating hormone receptor (FSHR)-specific peptides from the extracellular domain resulted in a progressive drop in sperm count with all animals becoming azoospermic by day 100. However, serum testosterone ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60921-2
更新日期:2004-04-01 00:00:00
abstract:RESEARCH QUESTION:Are triglyceride fatty acids in the follicular fluid associated with either follicular fluid phospholipid fatty acids or IVF outcomes and, if so, how are they associated? DESIGN:In a prospective cross-sectional study, 70 women undergoing intracytoplasmic sperm injection were recruited. Follicular flu...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2020.09.024
更新日期:2020-10-04 00:00:00
abstract:RESEARCH QUESTION:The study aimed to evaluate the associations of endocrine and ultrasound characteristics with metabolic syndrome in women with polycystic ovary syndrome (PCOS), and whether these associations were modified by body mass index (BMI). DESIGN:The study was a secondary analysis of baseline data from a ran...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2019.06.014
更新日期:2019-11-01 00:00:00
abstract::The efficiency of a new vitrification technique using embryos obtained after abnormal fertilization was assesed. A total of 100 embryos were vitrified, 48 with the automatic dehydrated carrier (ADC) technique and 52 with cryotop. The survival rates in ADC and cryotop groups were similar (85.4% versus 92.3%). The loss ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2014.10.012
更新日期:2015-02-01 00:00:00
abstract::Ejaculated spermatozoa, particularly in infertile men, have been shown to display morphological and biochemical features that are typical of an apoptotic phenotype in somatic cells. Deregulation of apoptosis is known to play roles in a number of disease processes, but roles for apoptosis in ejaculated spermatozoa and ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/s1472-6483(10)61892-5
更新日期:2003-10-01 00:00:00
abstract::Reactive oxygen species (ROS) have a negative impact on sperm DNA, leading to the formation of oxidative products such as 8-oxo-7,8-dihydroxyguanosine. This compound causes fragmentation and, thus, has a mutagenic effect. Patient treatment with oral antioxidant vitamins is, therefore, standard practice for male infert...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,多中心研究
doi:10.1016/s1472-6483(10)60887-5
更新日期:2007-04-01 00:00:00
abstract::FSH exists as a family of isohormones exhibiting distinct oligosaccharide structures, and the released FSH isoform mixtures change during the follicular phase of the menstrual cycle. In addition, the pulsatile release of gonadotrophins seems to expose follicles to bursts of more less-acidic FSH isoforms and the follic...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/s1472-6483(10)61826-3
更新日期:2002-11-01 00:00:00
abstract::Premature LH and progesterone surges are associated with different factors and hormonal modulators. The aim of the present study was (i) to investigate the clinical and laboratory factors and (ii) to highlight the importance of different stimulation protocols in associated premature LH and progesterone surges in intra...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)61751-8
更新日期:2003-09-01 00:00:00
abstract::Poor response to ovarian stimulation for assisted reproduction treatment is a therapeutic challenge. Oocyte donation may be unacceptable to some patients, and many couples opt to continue with treatment despite low follicle numbers. Minimal data are available regarding conception rates in poor responders who elect to ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)62164-5
更新日期:2003-06-01 00:00:00
abstract::Anticancer effects of statins were studied using karyotypically normal human embryonic stem cells (hESC) (HES3), karyotypically abnormal hESC (BG0IV), embryonal carcinoma (NTERA-2), ovarian (TOV-112D) and colorectal cancer (HT-29) cells. The cells were treated with simvastatin, pravastatin, mevastatin and lovastatin i...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60390-2
更新日期:2007-11-01 00:00:00
abstract:RESEARCH QUESTION:Does fetal reduction of triplet pregnancies to singleton result in superior obstetric and neonatal outcomes compared with triplets reduced to twins? DESIGN:A historical cohort study including 285 trichorionic and dichorionic triplet pregnancies that underwent abdominal fetal reduction at 11-14 weeks ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2019.12.014
更新日期:2020-03-01 00:00:00
abstract::The current systematic review and meta-analysis evaluate the perinatal outcomes in twin pregnancies following multifetal pregnancy reduction (MPR) compared with non-reduced triplet pregnancies. All studies comparing perinatal outcome of twin pregnancies following MPR to non-reduced triplet pregnancies were considered....
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.rbmo.2017.05.012
更新日期:2017-09-01 00:00:00
abstract::In this randomized, controlled, open-label, phase IV study, ovarian response after a follitropin alfa starting dose determined by the CONSORT calculator was compared with a standard dose (150 IU). Normo-ovulatory women (aged 18-34 years) eligible for assisted reproductive techniques were recruited (23 centres: nine Eu...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.rbmo.2014.11.013
更新日期:2015-03-01 00:00:00
abstract::The effect that gonadotrophin-releasing hormone (GnRH) antagonists exert on endometrial receptivity has not yet been elucidated. GnRH antagonists might directly affect oocytes, the embryo and/or the endometrium. The aim of this study was to investigate the direct effect of GnRH antagonists on the endometrium in oocyte...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,随机对照试验
doi:10.1016/s1472-6483(10)60266-0
更新日期:2009-02-01 00:00:00
abstract::Failed fertilization after intracytoplasmic sperm injection (ICSI) can occur due to an oocyte activation defect. In these cases assisted oocyte activation (AOA) may help but efficiency is still unknown. Prior to AOA, the mouse oocyte activation test (MOAT) can be carried out by injecting human spermatozoa into mouse o...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60313-6
更新日期:2008-11-01 00:00:00