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：:The aim of this descriptive study was to evaluate the attitudes and knowledge of IVF staff towards oocyte donation (OD) programme. A total of 163 individuals (19% men and 81% women) were requested to fill out a two-part questionnaire. Part 1 of the questionnaire contained general demographic information: 62% of the pa...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,多中心研究
doi：10.1016/s1472-6483(10)60333-1
更新日期：2008-01-01 00:00:00
abstract：:Spermatogenesis is a critical process for maintaining male fertility. Sustained spermatogonial stem cell self-renewal and differentiation ensures constant spermatogenesis, and several signalling pathways regulate this process. An increasing number of studies have suggested that the mammalian target of rapamycin (mTOR)...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.11.007
更新日期：2016-02-01 00:00:00
abstract：:The aetiology of endometriosis, a gynaecological disease defined by the histological presence of endometrial glands and stroma outside the uterine cavity, is still open to debate. Research has recently found evidence for endometriosis in human female fetuses at different gestational ages. This paper reports a new case...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2010.04.002
更新日期：2010-07-01 00:00:00
abstract：:Advertising is a commonly used means of recruiting an egg donor within Australia. The aim of this study was to explore the experiences and outcomes of people's attempts to recruit an egg donor through advertising in a printed publication, Melbourne's Child. Individuals and couples who placed a new advertisement betwee...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2011.03.009
更新日期：2011-06-01 00:00:00
abstract：:Total fertilization failures (TFF) are rare events of IVF by intracytoplasmic sperm injection (ICSI). When male factor is excluded, the lack of identifiable aetiological criteria raises the question of the reliable clinical management. The goal of this study was to identify molecular abnormalities in metaphase II (MII...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60404-x
更新日期：2008-12-01 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：RESEARCH QUESTION:What are the metabolic characteristics of homocysteine in polycystic ovary syndrome (PCOS)? DESIGN:Homocysteine concentrations were determined in serum samples from non-obese and obese control subjects and PCOS patients. Homocysteine metabolism was studied in a rat model of PCOS established using deh...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.05.008
更新日期：2018-08-01 00:00:00
abstract：:Cross-border reproductive care (CBRC) is becoming increasingly common. Little is known about the motivations and information and support needs of people who cross borders to access surrogacy. This study aimed to explore: how those considering or undertaking extraterritorial surrogacy reach their decision; what other a...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.08.008
更新日期：2015-11-01 00:00:00
abstract：:Egg sharing remains a controversial practice, mainly because of the presumed element of payment. In order to find out to what extent financial considerations motivated the women to share their oocytes, the data on egg sharing in Belgium are analysed. Belgium began providing full reimbursement for six in-vitro fertiliz...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)62009-3
更新日期：2006-07-01 00:00:00
abstract：:Clinicians who treat unsuccessful couples despite repeated transfers of good quality embryos face a challenge. Among the various strategies that have been described, embryo transfer at the blastocyst stage has been postulated to improve implantation. A prospective non-randomized analysis was performed in 276 IVF patie...
journal_title：Reproductive biomedicine online
pub_type： 临床试验,杂志文章
doi：10.1016/s1472-6483(10)61773-7
更新日期：2004-12-01 00:00:00
abstract：:Human amniotic fluid cells have been used as a diagnostic tool for the prenatal diagnosis of fetal genetic anomalies for more than 50 years. Evidence provided in the last 5 years, however, suggests that they can also harbour a therapeutic potential for human diseases, as different populations of fetal-derived stem cel...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60111-3
更新日期：2009-01-01 00:00:00
abstract：:Ovarian hyperstimulation syndrome (OHSS) is a rare but potentially fatal complication of IVF treatment. The risk of OHSS increases with increasing numbers of follicles aspirated and oocytes retrieved, but there is little evidence to support whether threshold values of either can be used to correctly predict OHSS. Sinc...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60213-1
更新日期：2008-09-01 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：RESEARCH QUESTION:The prevalence of infertility in couples actively trying to conceive is 25%. What is the consultation-seeking behaviour, diagnosis and related treatment in infertile couples across China? DESIGN:Large cross-sectional population-based study in 2010-2011, in which 25,270 couples from eight provinces/mu...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.11.034
更新日期：2019-06-01 00:00:00
abstract：:This is the first report of an intrauterine pregnancy following timed coitus, resulting from transperitoneal sperm and/or oocyte migration as the oocyte originated from an ectopic (undescended) ovary. The patient was treated in the infertility clinic after a history of primary infertility for 2 years. Diagnosis of a m...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)61738-5
更新日期：2003-07-01 00:00:00
abstract：:Many high-grade embryos selected for transfer according to their morphological evaluation were detected to have chromosomal abnormalities after aneuploidy screening for infertility by preimplantation genetic diagnosis (PGD). The aim of this study was to detect if there is any correlation between embryo quality and gen...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60984-4
更新日期：2006-01-01 00:00:00
abstract：RESEARCH QUESTION:What are the optimal values of maternal age and body mass index (BMI), paternal age and BMI, number of oocytes retrieved, and serum AMH concentrations for cumulative live birth rate (CLBR) in IVF and embryo transfer (IVF-ET)? DESIGN:This retrospective cohort study included 9494 women who underwent th...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.01.024
更新日期：2020-05-01 00:00:00
abstract：:When infertile women undergoing IVF or intracytoplasmic sperm injection (ICSI) have more than 20 mature oocytes retrieved, at least 15 oocytes are inseminated by their husband's spermatozoa. The extra oocytes are cryopreserved by vitrification. If the patients became pregnant and have healthy live births, the patients...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2011.11.002
更新日期：2012-02-01 00:00:00
abstract：:Meta-analyses were conducted to investigate the relationship of sperm DNA fragmentation on pregnancy outcome using in-vivo fertilization, IUI, routine IVF and ICSI. Couples with no known infertility problems were 7.0 times (CI 3.17, 17.7) more likely to achieve a pregnancy/delivery if the DNA fragmentation index (DFI)...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,meta分析
doi：10.1016/s1472-6483(10)62000-7
更新日期：2006-04-01 00:00:00
abstract：:The clinical impact of PGD was evaluated through the analysis of the reproductive outcome before and after PGD in the same group of poor prognosis IVF patients, undergoing PGD for chromosomal abnormalities. Based on a series of 2359 PGD cycles, resulting in the establishment of 498 chromosomal abnormality-free clinica...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60961-3
更新日期：2005-08-01 00:00:00
abstract：RESEARCH QUESTION:Does extending the follow-up after misoprostol treatment for early pregnancy loss increase the success rate? DESIGN:Patients who had experienced early pregnancy loss (<12 weeks) and were treated with misoprostol in a single university-affiliated medical centre were prospectively followed before and a...
journal_title：Reproductive biomedicine online
pub_type： 临床试验,杂志文章
doi：10.1016/j.rbmo.2019.02.011
更新日期：2019-07-01 00:00:00
abstract：:The aim of this study was to explore the achievement of parenthood 8 years after starting IVF, considering multiple pathways to parenthood during and after IVF treatment. Medical data on 6507 couples who began IVF between 2000 and 2002 were obtained from the databases of eight French IVF centres. Information on long-t...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2016.08.010
更新日期：2016-11-01 00:00:00
abstract：:Osteopontin and its receptor alpha(v)beta(3) integrin have recently been proposed as a major complex to promote embryo attachment, and thus they would be useful as markers of endometrial receptivity. In the current study alpha(v)beta(3) integrin and osteopontin expression and co-expression in in-phase and out-of-phase...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60146-0
更新日期：2008-06-01 00:00:00
abstract：:Our understanding of the composition of the microbial communities that inhabit the human body, known as the 'microbiome', is aided by the development of non-culture-dependent DNA sequencing. It is increasingly apparent that the balance of microbial species greatly affects the health of the host. Disturbances in the co...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2017.04.005
更新日期：2017-07-01 00:00:00
abstract：:The purpose of this commentary is to draw attention to some unsatisfactory features in the way that meta-analyses are presented in assisted reproduction journals. These features will be illustrated with reference to recently published papers. An appeal will be made for a more fastidious and rigorous approach to this s...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2013.05.019
更新日期：2013-11-01 00:00:00
abstract：:While the role of inherited thrombophilia has been accepted as a cause of recurrent late pregnancy complications, the contribution of mutated thrombophilic genes to implantation failure has not been studied. Proteins involved in fibrinolysis are necessary for trophoblast invasion into the endometrium. This study compa...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)61004-8
更新日期：2006-03-01 00:00:00
abstract：:Polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disease. Previous studies indicate that genes GGT1 and HNF1A may contribute to the abnormal glucose metabolism and altered lipid profile that are important clinical features of PCOS. In the current study, the correlation between polymorphisms in the GGT...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2017.10.107
更新日期：2018-01-01 00:00:00
abstract：:Anovulatory women can prove extremely challenging patients in the fertility clinic, particularly if they are unresponsive to standard protocols of clomiphene citrate. Katayama and colleagues now report (in this issue) an intriguing option, which yielded surprisingly high success rates in 16 selected young (age <36year...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2010.03.010
更新日期：2010-06-01 00:00:00
abstract：:Intracytoplasmic morphologically selected sperm injection (IMSI) involves the use of differential interference contrast microscopy at high magnification (at least ·6300) to improve the observation of live human spermatozoa (particularly by showing sperm head vacuoles that are not necessarily seen at lower magnificatio...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2013.09.019
更新日期：2014-01-01 00:00:00
abstract：:This study assessed whether age-specific (as-) cutoffs for anti-Müllerian hormone (AMH) have higher specificity in reflecting ovarian reserve than non-age-specific (nas-) AMH values. as-AMH values were defined in 792 consecutive infertility patients by establishing as-quartiles of AMH within five age groups. Oocyte yi...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2010.12.002
更新日期：2011-03-01 00:00:00
