Abstract：
:X-linked genetic diseases include a wide range of disorders such as the dystrophinopathies. Additionally in some rare genetic diseases, severity of expression is gender dependent. Prevention of such disorders usually involves prenatal diagnosis and termination of affected pregnancies, while preimplantation genetic diagnosis (PGD) represents a specialized alternative that avoids pregnancy termination. To preclude the rejection of unaffected male embryos that cannot be differentiated from those affected when using fluorescence in-situ hybridization, a flexible protocol based on multiplex fluorescence polymerase chain reaction (PCR) was standardized and validated for gender determination in single cells, which can potentially incorporate any disease-specific locus. The final panel of nine loci included four loci on the Y chromosome, two on the X chromosome plus up to three microsatellite markers to either support the gender diagnosis or to further monitor extraneous contamination. The protocol, standardized on single lymphocytes, established a PCR efficiency of >93% for all loci with maximum allele dropout rates of 4%. Microsatellite analysis excluded external contamination and confirmed biallelic inheritance. Proof of principle for the simplicity and flexibility of the assay was demonstrated through its application to clinical PGD cycles for lipoid congenital adrenal hyperplasia, which presents a more severe clinical course in males, and Duchenne muscular dystrophy.
journal_name
Reprod Biomed Onlinejournal_title
Reproductive biomedicine onlineauthors
Christofidou C,Sofocleous C,Vrettou C,Destouni A,Traeger-Synodinos J,Kekou K,Palmer G,Kokkali G,Mavrou A,Kitsiou S,Kanavakis Edoi
10.1016/s1472-6483(10)60178-2subject
Has Abstractpub_date
2009-09-01 00:00:00pages
418-25issue
3eissn
1472-6483issn
1472-6491pii
S1472-6483(10)60178-2journal_volume
19pub_type
杂志文章abstract：:The medical evaluation of recurrent pregnancy loss (RPL), the occurrence of two or more consecutive pregnancy losses prior to 20th week of gestation, is mainly focused on maternal factors. However, paternally expressed genes may also play a role in implantation and placenta quality. This study aimed to investigate the...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2016.12.004
更新日期：2017-03-01 00:00:00
abstract：RESEARCH QUESTION:What is the incidence and origin of meiotic whole and segmental aneuploidies detected by karyomapping at a blastocyst stage in human-derived IVF embryos? What is the distribution of various types of errors, including rare chromosomal abnormalities? DESIGN:The incidence of chromosomal aneuploidies was...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.11.023
更新日期：2019-03-01 00:00:00
abstract：:What makes reproductive technology unique is that it is in the forefront of creating human life, with an emphasis on 'giving'. Not surprisingly therefore, a significant appeal to altruism has crept into the language of reproductive technologies. If altruistic donations and behaviour involving reproductive technologies...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
abstract：:The introduction to this review discusses briefly why immunology, perceived as difficult by assisted reproduction technology clinicians, need nevertheless be envisaged as a central actor in the reproduction process, and how the maternal immune system, initially perceived as a threat to the fetoplacental unit, is in fa...
journal_title：Reproductive biomedicine online
pub_type：
doi：10.1016/s1472-6483(10)60572-x
更新日期：2008-02-01 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：:Accurate assessment of reactive oxygen species (ROS) concentrations may help in the diagnosis of infertility. The chemiluminescence technique, which uses a luminometer to measure ROS, is a common method of assessment. A better understanding of the chemiluminescence technique will allow its proper application in reprod...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)61284-9
更新日期：2004-10-01 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 study investigated the role of the leptin system in human oocyte maturation and its prognostic value for IVF outcome. The protein concentrations of leptin and soluble leptin receptor in follicular fluid were determined and the free leptin index (FLI) were established. Additionally, mRNA expression levels of diffe...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2010.03.003
更新日期：2010-06-01 00:00:00
abstract：:Testicular needle aspiration has been proposed as a simple alternative to open biopsy for the diagnosis and treatment of azoospermia. This study describes a new modification of needle aspiration biopsy using an ordinary intravenous catheter to retrieve testicular spermatozoa from patients with obstructive azoospermia,...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)62117-7
更新日期：2004-07-01 00:00:00
abstract：RESEARCH QUESTION:Which factors are associated with reproductive outcomes among infertile women undergoing myomectomy for intramural fibroids? DESIGN:This was a historical cohort study including 127 infertile women who underwent myomectomy due to intramural fibroids as part of fertility enhancement treatment at a sing...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2019.04.130
更新日期：2019-09-01 00:00:00
abstract：:A total of 52 female Wistar rats were distributed into four groups: non-diabetic (G1) and diabetic (G2) exposed to filtered air; non-diabetic (G3) and diabetic (G4) exposed to cigarette smoke. Diabetes was induced by streptozotocin (40 mg/kg bodyweight, i.v.). Rats were exposed, for 30 min, to filtered air (control) o...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60135-6
更新日期：2009-04-01 00:00:00
abstract：:Triggering of final oocyte maturation with gonadotrophin-releasing hormone agonist (GnRHa) has previously been shown to prevent ovarian hyperstimulation syndrome (OHSS), but at the same time a detrimental effect on clinical outcome parameters was usually reported. In this prospective, observational, proof-of-concept s...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60006-5
更新日期：2009-05-01 00:00:00
abstract：:A mounting interest in natural cycle IVF has challenged the medical community to better understand the mechanisms controlling the follicular phase and ovulation in particular, in an effort to optimize this procedure and its outcome. For practical reasons, the advancement of the follicular phase in the menstrual cycle ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(10)60381-1
更新日期：2007-11-01 00:00:00
abstract：:For the gamete and embryo donation community, it is well recognized that the implementation of a gamete and embryo donor registry (GEDR) represents a good initiative to ensure the best possible health conditions for donor-conceived individuals. Be they national, institutional or independent, GEDR can play a major role...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2013.10.020
更新日期：2014-03-01 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：: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：: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：RESEARCH QUESTION:Elective single-embryo transfer (eSET) at blastocyst stage is widely used to reduce the frequency of multiple pregnancies after IVF. There are, however, concerns about increased risks for the offspring with prolonged embryo culture. Is it possible to select embryos for transfer at the early cleavage s...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.09.020
更新日期：2019-01-01 00:00:00
abstract：RESEARCH QUESTION:Endoplasmic reticulum stress (ERS) is caused by the accumulation of the misfolded or unfolded proteins in the endoplasmic reticulum and induces the unfolded protein response (UPR). Peritoneal fluid is important in the pathogenesis of endometriosis. In this study, the role of UPR associated with ERS in...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.09.012
更新日期：2021-01-01 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：:Gentle ovarian stimulation protocols, such as 'mini-IVF', have several potential advantages over conventional IVF protocols, including less medication and fewer injections, producing fewer eggs, but eggs of higher quality. The particular 'mild' stimulation protocol called 'mini-IVF' is described. This protocol require...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2010.06.033
更新日期：2010-10-01 00:00:00
abstract：:Fertility-preservation techniques for medical reasons are increasingly offered in national networks. Knowledge of the characteristics of counselled patients and techniques used are essential. The FertiPROTEKT network registry was analysed between 2007 and 2013, and included up to 85 university and non-university centr...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.07.013
更新日期：2015-11-01 00:00:00
abstract：:Time-lapse imaging of the human preimplantation embryo in vitro has revealed a transient phenomenon involving the appearance of perivitelline threads, commonly observed at the two-cell stage. These threads span the perivitelline space, arising at the specific area where the cytoplasmic membrane contacts the zona pellu...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2017.09.004
更新日期：2017-12-01 00:00:00
abstract：:In male infertility, complementary treatment with antioxidant-containing food supplements quadruples the spontaneous pregnancy rate and reduces the cost per pregnancy by 60%. ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2011.05.009
更新日期：2011-09-01 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：:Today an accurate diagnosis of adenomyosis can be made thanks to progress in imaging techniques: sonography and magnetic resonance imaging (MRI). This has made it possible to clinically correlate the presence of adenomyosis to infertility. At the same time, a series of pathogenetic hypotheses have been presented to ex...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2011.10.003
更新日期：2012-01-01 00:00:00
abstract：RESEARCH QUESTION:When and how does the gradual transition of the endocrine control of early pregnancy from the corpus luteum to the placenta, termed luteoplacental shift, take place? DESIGN:Prospective analysis of serum progesterone levels in pregnancies (n = 88) resulting from programmed frozen-thawed embryo transfe...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.01.019
更新日期：2020-05-01 00:00:00
abstract：:The European Union's Tissues and Cells Directive (2004) establishes an extensive framework of standards for all tissue banks throughout the EU. This article considers how the requirements of the Directive might be expected to achieve the stated goals of promoting the safety of assisted conception treatments and/or fac...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60954-6
更新日期：2005-08-01 00:00:00
abstract：:Polycystic ovarian syndrome (PCOS) is a common endocrine condition with reproductive and metabolic consequences, including anovulation, infertility and an increased prevalence of diabetes mellitus. Obesity, central obesity and insulin resistance are strongly implicated in its aetiology. Dietary weight loss is recommen...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(10)61182-0
更新日期：2006-05-01 00:00:00
abstract：:Polymorphic variants in the phase I enzyme, cytochrome P450 gene, may lead to increased toxification, whereas polymorphisms in the phase II enzyme, glutathione S-transferase genes, may result in impaired detoxification. Alterations in the activities of phase I drug metabolizing enzymes and phase II detoxification enzy...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)62129-3
更新日期：2004-08-01 00:00:00
