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：:Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A novel TG(13)T(2) allele was identified in a CBAVD patient with no clinical cystic fibrosis phenotype, normal pancrea...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60089-2
更新日期：2009-03-01 00:00:00
abstract：:Myomectomy is the most frequent reproductive surgery to preserve, improve fertility, or both. The present study was designed to assess the safety and efficacy of minilaparotomy for myomectomy through a systematic review of randomized and non-randomized controlled trials with a meta-analysis. All available studies comp...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.rbmo.2015.01.013
更新日期：2015-05-01 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：RESEARCH QUESTION:Does anogenital distance (AGD) differ in newborn infants conceived through assisted reproduction technology (ART) compared with those conceived naturally? DESIGN:This case-control study looked at anthropometric and anogenital measurements in 247 male and 200 female newborns born after ART (n = 121) o...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.04.019
更新日期：2020-09-01 00:00:00
abstract：:Several criteria are being used to restrict access to medically assisted reproduction. In many countries, parental characteristics such as age and sexual orientation are used for this purpose. Valid use of such criteria is hampered by two elements: first, there is no consensus on which features good parents should pos...
journal_title：Reproductive biomedicine online
pub_type： 评论,杂志文章
doi：10.1016/j.rbmo.2013.04.018
更新日期：2013-08-01 00:00:00
abstract：:This paper presents the Danish 10-year experience (1999-2009) with cryopreservation (n=386) and autotransplantation of ovarian tissue (n=18). Before applying the technique to humans, the method was thoroughly tested and validated. The cryoprotectant solution was chosen after histological evaluation of mouse and human ...
journal_title：Reproductive biomedicine online
pub_type： 历史文章,杂志文章
doi：10.1016/j.rbmo.2010.10.015
更新日期：2011-02-01 00:00:00
abstract：:Glutathione S-transferases are a family of multifunctional proteins involved in intracellular transport processes and drug detoxication. In rats, these enzymes are dimeric proteins, and exist as cytosolic and microsomal proteins. The affinity purified rat testicular glutathione S-transferases are comprised of four sub...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60499-3
更新日期：2004-01-01 00:00:00
abstract：:Endocrine-disrupting chemicals are substances present in the environment that can interfere with normal hormonal balance and thus exert potentially adverse health effects on the human organism. Male reproductive system development and function may be susceptible to the effects of such environmental toxicants. Bispheno...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2013.02.005
更新日期：2013-05-01 00:00:00
abstract：:Older women comprise an increasing portion of patients entering assisted reproduction programmes. This study is a retrospective summary of the files of all patients aged 40 years and older at advent of IVF, between 1995 and 2004, in the authors' centre. In all, 381 women underwent 1217 initiated treatment cycles. Embr...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60878-4
更新日期：2007-03-01 00:00:00
abstract：:Developmental toxicity caused by exposure to a mixture of environmental pollutants has become a major health concern. Human-made chemicals, including xenoestrogens, pesticides and heavy metals, as well as unhealthy lifestyle behaviours, mainly tobacco smoking, alcohol consumption and medical drug abuse, are major fact...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2014.03.002
更新日期：2014-07-01 00:00:00
abstract：:This paper draws on the findings of the first survey of surrogacy arrangements in Human Fertilisation and Embryology Authority (HFEA) licensed fertility clinics since 1998. Given the complex social, ethical and legal issues involved, surrogacy continues to raise debate worldwide and fuel calls for increased domestic p...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.06.009
更新日期：2015-09-01 00:00:00
abstract：:Caesarean scar pregnancy is a dangerous condition that occurs when an embryo is implanted in a previous Caesarean scar. This condition has become more frequent as a direct consequence of the increased number of Caesarean sections reported worldwide. Timely diagnosis of this condition is fundamental, and allows a conse...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2014.06.017
更新日期：2014-11-01 00:00:00
abstract：:Preimplantation genetic diagnosis (PGD) has recently been performed for inherited cancer predisposition determined by p53 tumour suppressor gene mutations, suggesting the usefulness of PGD for late onset disorders with genetic predisposition, including those caused by the germline mutations of other tumour suppressor ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)61809-3
更新日期：2002-05-01 00:00:00
abstract：:The use of donor sperm is increasing, yet limited information is available about the health and development of children conceived from donor sperm. This retrospective descriptive study aimed to assess health and development in a cohort of school-aged children who were conceived using donor sperm. Participants included...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2017.06.012
更新日期：2017-10-01 00:00:00
abstract：:The process of implantation and trophoblast invasion is currently considered as the most limiting factor for the establishment of pregnancy. Molecular interactions at the embryo-maternal interface during the time of adhesion and subsequent invasion are crucial to the process of embryonic implantation. Both partners, t...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(10)61717-8
更新日期：2003-03-01 00:00:00
abstract：:The aim of this meta-analysis was to compare the efficacy of gonadotrophin antagonist (GnRH-ant) versus GnRH agonist (GnRHa) as coadjuvant therapy for ovarian stimulation in poor ovarian responders in IVF/intracytoplasmic sperm injection cycles. Search strategies included on-line surveys of databases such as MEDLINE ,...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,meta分析
doi：10.1016/s1472-6483(10)60651-7
更新日期：2006-11-01 00:00:00
abstract：:The objective of this review is to analyse and integrate into a semi-historical background the alternative treatments available for the alleviation of infertility. Data are presented on their causes and success, using compilations of data reported in the literature along with personal experience. Results are expressed...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(10)61601-x
更新日期：2002-07-01 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：: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：: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：: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：:The anti-oestrogenic activity of clomiphene citrate (CC) on the cervical mucous and endometrium may be the reason for the relatively low pregnancy rates in CC induction cycles. Various follicular-phase supplements have been tried to improve cycle outcome in these patients. This study compared follicular-phase suppleme...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.rbmo.2009.06.007
更新日期：2009-10-01 00:00:00
abstract：:This is a report of a 6-year follow-up of a male patient's semen parameters during heavy chronic alcohol intoxication and after withdrawal. A slowly progressive negative impact of alcohol could be observed: isolated moderate teratozoospermia was firstly noted followed by oligoasthenoteratospermia. Then a severe worsen...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2009.12.003
更新日期：2010-03-01 00:00:00
abstract：:The aneuploidy rates in expanded blastocysts biopsied on days 5 and 6 development were assessed in women undergoing IVF followed by array comparative genomic hybridization. This study included 1171 expanded blastocysts from 465 patients. Among the 465 patients, 215 and 141 underwent embryo biopsy on day 5 and day 6 (4...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2016.06.005
更新日期：2016-09-01 00:00:00
abstract：:It remains controversial whether anti-Müllerian hormone (AMH) concentration is influenced by hormonal contraception. This study quantified the effect of hormonal contraception on both endocrine and sonographic ovarian reserve markers in 228 users and 504 non-users of hormonal contraception. On day 2-5 of the menstrual...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2012.09.001
更新日期：2012-12-01 00:00:00
abstract：:Serum anti-Müllerian hormone (AMH) concentrations decline with increasing age and constitute a sensitive marker for ovarian ageing. In addition, basal serum AMH concentrations predict ovarian response during IVF cycles. Concomitantly, oocyte quantity and embryo quality decrease with advancing age. Hence, it was postul...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60480-4
更新日期：2008-05-01 00:00:00
abstract：:Quantitative fluorescent PCR (QF-PCR) has been shown to be an accurate assay for the rapid prenatal diagnosis of chromosome disorders. The extra-embryonic coelom develops during week 4 of gestation and it can be aspirated from the following week, making coelocentesis the earliest possible method of prenatal diagnosis ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)62173-6
更新日期：2003-06-01 00:00:00
abstract：:Available evidence on the impact of ovarian stimulation on the progression of endometriosis or its recurrence was systematically reviewed. Data from ovarian stimulation alone, or associated with intrauterine insemination (IUI) or IVF, were included. Sixteen studies were selected. Initial case reports (n = 11) document...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.11.021
更新日期：2019-02-01 00:00:00
abstract：:In terms of treatment outcome, little prognostic power is attributed to day-4 morphology. A day-4 score was applied to 56 patients separating non-compacting embryos from compacting (some areas of compaction) and fully compacted embryos. The latter were further subdivided according to the morphology of compaction. Grad...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60425-7
更新日期：2009-01-01 00:00:00
abstract：:In 2006 the Dutch Society for Clinical Embryologists (KLEM) approached the Netherlands Standardisation Institute (NEN) for advice regarding the lack of safety and quality specifications for medical devices used in assisted reproductive technology. A project plan was drafted in accordance with NEN-standardized methods ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2010.04.005
更新日期：2010-08-01 00:00:00
