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 genes. Here PGD was performed for two couples, one at risk for producing a child with maternally derived neurofibromatosis type I (NF1), and the other with paternally derived neurofibromatosis type II (NF2). The procedure involved a standard IVF protocol, combined with testing of oocytes or embryos prior to their transfer back to the patients. Maternal mutation Trp-->Ter (TGG-->TGA) in exon 29 of the NF1 gene was tested by sequential PCR analysis of the first and second polar bodies, and paternal L141P mutation in exon 4 of the NF2 gene by embryo biopsy at the cleavage stage. In both cases, multiplex nested PCR was applied, involving NF1 and NF2 mutation analysis simultaneously with the 3 and 2 linked markers, respectively. Of 57 oocytes tested in four PGD cycles for NF1 mutation, 26 mutation-free oocytes were detected, from which eight were preselected for transfer, two in each cycle. These produced two clinical pregnancies, one confirmed to be mutation free by chorionic villus sampling but ending in a stillbirth, and the other still ongoing. Of 18 embryos analysed in a cycle performed for NF2 mutation, eight mutation-free embryos were detected, three of which were transferred back to the patient, resulting in a singleton pregnancy and the birth of a mutation-free child. This suggests that PGD is a useful approach for avoiding the birth of children with inherited cancer predisposition, determined by NF1 and NF2 gene mutations.
journal_name
Reprod Biomed Onlinejournal_title
Reproductive biomedicine onlineauthors
Verlinsky Y,Rechitsky S,Verlinsky O,Chistokhina A,Sharapova T,Masciangelo C,Levy M,Kaplan B,Lederer K,Kuliev Adoi
10.1016/s1472-6483(10)61809-3keywords:
subject
Has Abstractpub_date
2002-05-01 00:00:00pages
218-22issue
3eissn
1472-6483issn
1472-6491pii
S1472-6483(10)61809-3journal_volume
4pub_type
杂志文章abstract：:This study aimed to investigate whether the spermatozoa-zona pellucida binding test is able to select spermatozoa with higher fertilization potential and higher rate of successful embryo development. This prospective study was performed with metaphase II (MII) oocytes retrieved from couples undergoing intracytoplasmic...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2009.09.020
更新日期：2009-12-01 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：:Anti-Müllerian hormone (AMH) has emerged as an important marker of ovarian reserve. Its variation throughout the cycle, however, may still be a matter of debate. The objective of this study was to re-evaluate the intra-cycle fluctuations of AMH in individuals in a prospective clinical study with focus on the age-relat...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2012.02.023
更新日期：2012-06-01 00:00:00
abstract：:Although mammalian ovaries contain hundreds of thousands of pre-antral follicles, fewer than 1% of these reach maturity and ovulation. Obtaining immature eggs from the pre-antral follicles of ovarian tissue could increase the possibility of preserving fertility in women undergoing anti-cancer treatment, and in women w...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60670-0
更新日期：2007-06-01 00:00:00
abstract：:Preimplantation genetic diagnosis (PGD) is an increasingly common adjunct to IVF. The information gained from PGD may be used to reduce the incidence of chromosomally abnormal pregnancies and augment the current selection process of embryos. As such, patients may choose to utilize PGD in either fresh or cryopreserved ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2012.06.021
更新日期：2012-11-01 00:00:00
abstract：RESEARCH QUESTION:Can single-nucleotide polymorphisms (SNP) of genes related to progesterone synthesis predict the risk of premature serum progesterone elevation in women undergoing gonadotrophin-releasing hormone agonist protocols for ovarian stimulation? DESIGN:A total of 765 women were divided into high progesteron...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2019.12.013
更新日期：2020-03-01 00:00:00
abstract：RESEARCH QUESTION:Fat accumulation is present in most post-menopausal women, but the underlying mechanism remains unclear. Aquaporin 7 (AQP7) is the most important glycerol channel facilitating glycerol efflux in adipocytes. High circulating FSH in post-menopausal women may play an independent role in regulation of the...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.08.008
更新日期：2020-12-01 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
abstract：:Cell-free seminal mRNA (cfs-mRNA) contains testis-specific transcripts from bilateral testes. This study determined the presence of DEAD box polypeptide 4 (DDX4) in cfs-mRNA to identify and characterize the incidence of Sertoli cell-only (SCO) syndrome in men with non-obstructive azoospermia (NOA). DDX4 cfs-mRNA was d...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2016.05.001
更新日期：2016-08-01 00:00:00
abstract：:Polycystic ovary syndrome (PCOS) is associated with increased risk of impaired glucose tolerance and type 2 diabetes. PCOS has been considered as a major risk factor for the development of diabetes, and screening of women with PCOS for glucose intolerance is suggested. Detection of glucose intolerance in PCOS is best ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/s1472-6483(10)61645-8
更新日期：2004-06-01 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：: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：RESEARCH QUESTION:Does mode of conception influence placental volume and other first-trimester outcomes? DESIGN:This retrospective single-centre case-control study led in Dijon University Hospital included 252 singleton pregnancies (84 IVF with either fresh embryo transfer or frozen-thawed embryo transfer [FET] and 16...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.12.023
更新日期：2019-04-01 00:00:00
abstract：:The discovery of cell-free fetal DNA in maternal plasma in 1997 has stimulated a rapid development of non-invasive prenatal testing. The recent advent of massively parallel sequencing has allowed the analysis of circulating cell-free fetal DNA to be performed with unprecedented sensitivity and precision. Fetal trisomi...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,评审
doi：10.1016/j.rbmo.2013.08.008
更新日期：2013-12-01 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 aim of this study was to devise an evidence-based scoring system for prioritizing mosaic aneuploid embryos for transfer. A retrospective analysis was performed of all sequential cytogenetic and molecular results on chorionic villi samples (n = 72,472) and products of conception (n = 3806) analysed at a single cent...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2018.01.005
更新日期：2018-04-01 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 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 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：: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：RESEARCH QUESTION:Does obesity affect endometrial gene expression in women with endometriosis, specifically women with stage I disease? DESIGN:Differential gene expression analysis was conducted on endometrium from women with and without endometriosis (n = 169). Women were diagnosed after surgical visualization and st...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.03.015
更新日期：2020-07-01 00:00:00
abstract：:The purpose of the study was to evaluate whether a lower concentration of FSH or 2-h incubation with FSH would improve the outcome of in-vitro maturation of oocytes. The immature oocytes were obtained from FVB mice, and were allocated to four groups and incubated in the maturation media for 24 h. The maturation media ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2011.03.019
更新日期：2011-07-01 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：:From an economist's perspective, cross-border reproductive care (CBRC) reflects a global market economy bringing together the needs of patients and skills of doctors at an agreed price. From this perspective CBRC is neither wrong nor right, rather it reflects rational economic behaviour of couples to maximize their we...
journal_title：Reproductive biomedicine online
pub_type： 评论,杂志文章
doi：10.1016/j.rbmo.2011.09.006
更新日期：2011-12-01 00:00:00
abstract：:Gonadotrophin-releasing hormone (GnRH) antagonist rescue is performed by replacing a GnRH agonist with a GnRH antagonist in patients with rapidly rising serum oestradiol who are at risk of ovarian hyperstimulation syndrome (OHSS) during stimulation. It results in a rapid reduction in serum oestradiol, allowing for the...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2012.05.004
更新日期：2012-09-01 00:00:00
abstract：RESEARCH QUESTION:Are obstetric and perinatal complications associated with morphokinetic parameters of embryo development? DESIGN:This proof-of-concept pilot study included a retrospective analysis of embryo morphokinetic parameters of 85 live births following day 5 single blastocyst transfer. Kinetic variables inclu...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/j.rbmo.2020.09.030
更新日期：2021-01-01 00:00:00
abstract：:The paper 'Robert G. Edwards and the Roman Catholic Church' by Benagiano and colleagues in this issue of Reproductive BioMedicine Online is a very important and timely article published by well-informed authors on the occasion of the long-awaited award of the Nobel Prize to a well-deserved scientist, Bob Edwards. I fo...
journal_title：Reproductive biomedicine online
pub_type： 评论,杂志文章
doi：10.1016/j.rbmo.2011.03.006
更新日期：2011-06-01 00:00:00
abstract：:Countries that oppose embryo destruction for research purposes can forbid the production of human embryonic stem cell lines on their territory, but these cell lines are nevertheless produced abroad. Therefore, these countries also need to determine if their position on embryo destruction allows them to import and use ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章
doi：10.1016/s1472-6483(10)60063-6
更新日期：2009-01-01 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：:In nature, HCG is secreted by the implanting embryo from peri-implantation and onwards. In contrast, LH is mandatory for steroidogenesis and follicular development during the follicular phase, working in synergy with FSH. Moreover, LH is mandatory for the function of the corpus luteum. Although LH and HCG bind to the ...
journal_title：Reproductive biomedicine online
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.rbmo.2017.05.001
更新日期：2017-08-01 00:00:00
