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：:Some patients in IVF programmes repeatedly display an abnormal embryonic development characterized as soon as day 2 post fertilization by a high rate (>60%) of highly fragmented embryos (⩾40% of cytoplasmic fragments) leading to recurrent IVF failures. This study postulated that, for various maternal reasons, some emb...
journal_title：Reproductive biomedicine online
pub_type： 临床试验,杂志文章
doi：10.1016/j.rbmo.2012.01.004
更新日期：2012-04-01 00:00:00
abstract：:Worldwide, oocyte donors donate voluntarily or receive varying amounts of money for donation. This raises ethical questions regarding the appropriateness of financial compensation, and the possibility of undue inducement and exploitation of oocyte donors. Are these donors capable of making an independent, well-conside...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2017.05.002
更新日期：2017-08-01 00:00:00
abstract：:To investigate the possible beneficial effect of a new stimulation protocol (termed 'CRASH') on the outcome of poor responder patients, a multicentre, prospective longitudinal study including a total of 36 women undergoing 72 IVF/intracytoplasmic sperm injection (ICSI) cycles with patients serving as their own control...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,多中心研究
doi：10.1016/s1472-6483(10)61685-9
更新日期：2005-12-01 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：:This study evaluated the cost-effectiveness of treatments for women with polycystic ovary syndrome (PCOS) who ovulate on clomiphene citrate but do not conceive after six cycles. A decision-analytic framework was developed for six scenarios: (1) three cycles of IVF; (2) continuation of clomiphene citrate for six cycles...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2014.01.014
更新日期：2014-05-01 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：:Preimplantation genetic screening for aneuploidy continues to excite disagreement, discussion and confusion in the field of reproductive medicine. This commentary provides a contribution to the ongoing debate. ...
journal_title：Reproductive biomedicine online
pub_type： 评论,杂志文章
doi：10.1016/j.rbmo.2018.06.018
更新日期：2018-08-01 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：:The embryologist presides over the fulfillment of a patient's treatment in the laboratory for IVF through use of assisted reproduction techniques, and is in a unique position to impart quality to the process. Although the technical skill of the embryologist is critical, the embryologist's contribution to quality is eq...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2015.07.006
更新日期：2015-10-01 00:00:00
abstract：:Endometriosis is a complex disease that is influenced by genetic and environmental factors. In endometriosis, WNT4 plays a likely role owing to its biological functions. In this study, the TaqMan allelic discrimination technique was used to investigate the relationship between endometriosis and four single nucleotide ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2014.12.010
更新日期：2015-04-01 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：:Progesterone has been implicated in the process of spermatogenesis. This study aimed to investigate the association of progesterone receptor (PR) expression with spermatogenesis in the testis of infertile men. PR mRNA and protein were assessed by in-situ hybridization and immunohistochemistry in testicular biopsies ob...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60192-7
更新日期：2008-08-01 00:00:00
abstract：:The bi-parental genetic state is not a given after assisted reproduction. This is based on a biological definition of parentage that concerns generational inheritance of genetic material. Often three or more individuals may participate in artificial reproduction. Only cytoplasmic and spindle transfer can result in the...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2013.03.008
更新日期：2013-06-01 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：:The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies r...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2017.01.003
更新日期：2017-04-01 00:00:00
abstract：:To investigate the development of follicles and incidence of apoptosis in vitrified cultured mouse ovaries in the presence and absence of Kit ligand, 1-week-old mouse ovaries were cultured in the presence or absence of Kit ligand for 7 days. Development and function of ovarian follicles was evaluated by histology and ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2015.01.009
更新日期：2015-05-01 00:00:00
abstract：:This study describes and compares the possible effects of vitrification on the ultrastructural morphology of 20 human mature oocytes vitrified using two different supports, cryoleaf (n = 10) and cryoloop (n = 10). Fresh human mature oocytes (n = 15) were used as controls. Fresh and vitrified-warmed oocytes appeared ro...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60280-5
更新日期：2009-01-01 00:00:00
abstract：:Preimplantation genetic diagnosis and screening improves the chances of achieving a viable pregnancy, not only free of undesired single-gene defects but also aneuploidy. In addition, improvements in vitrification provide an efficient means of preserving embryos (blastocysts). By combining trophectoderm biopsy with rec...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2013.11.018
更新日期：2014-04-01 00:00:00
abstract：:The clinical implications of congenital uterine anomalies (CUA), and the benefits of hysteroscopic resection of a uterine septum, were evaluated. Studies comparing reproductive and obstetric outcome of patients with and without CUA and of patients who had and had not undergone hysteroscopic resection of a uterine sept...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.rbmo.2014.09.006
更新日期：2014-12-01 00:00:00
abstract：:This study compared the effect on blastocyst development and clinical outcome of coasting in women at increased risk of moderate-severe ovarian hyperstimulation syndrome (OHSS; n=389) with a control group matched for age and basal FSH that did not undergo coasting (n=386) in IVF/intracytoplasmic sperm injection (ICSI)...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2014.04.014
更新日期：2014-08-01 00:00:00
abstract：:Chromosome abnormalities are common in oocytes derived from patients undergoing IVF treatment. The proportion of oocytes displaying aneuploidy is closely related to maternal age and may exceed 60% in patients over 40 years old. However, little information currently exists concerning the incidence of such anomalies in ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60078-8
更新日期：2009-08-01 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：: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：:In this prospective randomized study, women with idiopathic karyotypically normal premature ovarian failure (POF) were treated with gonadotrophin-releasing hormone (GnRH) agonist and gonadotrophins with and without the addition of corticosteroids in an attempt to restore ovarian function. The study comprised 58 women ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,随机对照试验
doi：10.1016/s1472-6483(10)60711-0
更新日期：2007-08-01 00:00:00
abstract：RESEARCH QUESTION:To determine whether there is a risk of localized Zika virus (ZIKV) infection in the upper genital tract, specifically the oocytes, follicular fluids and endometrium, in exposed and/or recently infected reproductive-age women. ZIKV is an Aedes mosquito-borne Flavivirus that can lead to birth defects a...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2019.05.013
更新日期：2019-10-01 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：: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：RESEARCH QUESTION:Does artificial oocyte activation improve clinical outcomes for patients at risk of intracytoplasmic sperm injection (ICSI) fertilization failure? DESIGN:In this study, sibling oocytes from patients with previous ICSI failure or severe teratozoospermia were divided equally into two groups, half for a...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2019.03.216
更新日期：2019-08-01 00:00:00
abstract：:The non-classical major histocompatibility complex (MHC) class Ib antigens, termed HLA-G and HLA-E, have been associated with fetal maternal tolerance. The role of HLA-G in the preimplantation embryo remains unclear although immunoprotection, adhesion and cell signalling mechanisms have been suggested. Unlike HLA-G, H...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2009.11.008
更新日期：2010-02-01 00:00:00
abstract：:Regenerative medical therapy has been expected to compensate for the therapeutic disadvantages of reconstructive surgery and organ transplantation, as well as create a new therapeutic strategy. The objective of regenerative medical therapy is to induce the regeneration and repair of defective tissues based on the natu...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(10)60558-5
更新日期：2008-01-01 00:00:00
