Abstract:
BACKGROUND:For couples at risk of transmitting a known single-gene defect, preimplantation genetic diagnosis (PGD) allows the identification and transfer of only unaffected embryos following in vitro fertilisation (IVF), single-cell biopsy at about the eight-cell stage, and genetic analysis by PCR. This technique therefore avoids the risk of terminating an affected pregnancy diagnosed later in gestation. METHODS AND RESULTS:Using nested PCR, the delta F508 mutation causing cystic fibrosis can be detected in single cells and we previously reported successful PGD in a couple in whom both partners carry the delta F508 mutation. To date we have treated 12 couples in a total of 18 cycles. This resulted in five singleton births confirmed to be homozygous normal. Single blastomeres from disaggregated embryos which had not been transferred were analysed to confirm the original diagnosis and assess reliability in clinical practice. Amplification efficiency and accuracy were high, with blastomeres from embryos diagnosed as homozygous normal or affected. In a proportion of blastomeres from presumed carrier embryos, one of the parental alleles failed to amplify, apparently at random (allele dropout, ADO). A possible explanation is the relative inaccessibility of one of the target allele early in the PCR. To test this we have used single lymphocytes from delta F508 carriers and investigated the effects of various denaturation temperatures in the early cycles of amplification. CONCLUSIONS:Increasing the denaturation temperature reduced the rate of ADO without affecting amplification efficiency.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Ray PF,Winston RM,Handyside AHdoi
10.1007/BF02072529subject
Has Abstractpub_date
1996-02-01 00:00:00pages
104-6issue
2eissn
1058-0468issn
1573-7330journal_volume
13pub_type
杂志文章abstract:PROBLEM:Platelet-activating factor (PAF) plays a significant role in fertility. Preimplantation stage embryos produce PAF (ePAF) which is required for development. PAF's mechanism of action is receptor-mediated and its presence has been reported in the developing mouse and human embryo. Exposure of preimplantation stag...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/b:jarg.0000043703.73207.25
更新日期:2004-08-01 00:00:00
abstract:PURPOSE:To study the presence and distribution of genes encoding free radical scavengers in human granulosa cells from primordial and primary ovarian follicles. METHODS:A class comparison study on existing granulosa cell transcriptome from primordial (n = 539 follicles) and primary (n = 261) follicles donated by three...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1240-3
更新日期:2018-10-01 00:00:00
abstract:PURPOSE:In this study we investigated the need of the support from cumulus cells for germinal-vesicle (GV) oocytes collected from stimulated ovaries to complete their maturation to metaphase II (MII). METHODS:We compared the maturation rate of GV oocytes after coculture with cumulus cells (study group) with their spon...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1020410217220
更新日期:1999-07-01 00:00:00
abstract:PURPOSE:In a preimplantation genetic diagnosis for aneuploidy (PGD-A) program, the more embryos available for biopsy, consequently increases the chances of obtaining euploid embryos to transfer. The aim was to increase the number of viable euploid blastocysts in patients undergoing PGD-A using fresh oocytes together wi...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-016-0868-0
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:Our objective was to obtain parthenogenetic activation of unfertilized human oocytes by puromycin and to try to use this procedure for cytogenetic purposes. SETTING:The setting was our IVF laboratory. METHODS:Eighty-two spare oocytes from 34 IVF patients were used. In the first series of experiments 39 unfe...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01203955
更新日期:1992-08-01 00:00:00
abstract:PURPOSE:this study was conducted on the effects of vitrification cryotop method on gene expression of mature oocytes in Mus musculus. METHODS:transcript analyses of three mouse genes, namely Mater, Hook1 and Sod1, were performed upon non-vitrified and vitrified oocytes with different concentrations of dimethyl sulfoxi...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-010-9453-0
更新日期:2010-11-01 00:00:00
abstract:PURPOSE:To evaluate the association between serum progesterone (P) levels on the day of embryo transfer (ET) and pregnancy rates in fresh donor IVF/ICSI cycles. METHODS:Fresh donor cycles with day 3 ET from 10/2007 to 8/2012 were included (n = 229). Most cycles (93 %) were programmed with a gonadotropin releasing horm...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0199-y
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:Assess the effect of class III (body mass index [BMI, kg/m2] 40-49.9) and class IV obesity (≥ 50) on clinical pregnancy and live birth outcomes after first oocyte retrieval and fresh embryo transfer cycle. DESIGN:Cohort study SETTING: Academic center PATIENTS: Patients undergoing their first oocyte retrieval...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-02011-1
更新日期:2020-11-16 00:00:00
abstract:PURPOSE:Sperm play an essential role in embryonic genome activation and embryonic progression to blastocyst. In the present work, we focus on development of embryos created as a result of ICSI with testicular or epididymal sperm from azoospermic males and compare this to outcomes from normospermic males. The objective ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1183-8
更新日期:2018-07-01 00:00:00
abstract:PURPOSE:To characterize each chromosome's risk for being involved in embryonic aneuploidy. METHODS:This is a retrospective cohort study conducted at a single, academic center. The cohort consisted of 15,169 consecutive trophectoderm biopsies which then underwent comprehensive chromosome screening utilizing validated r...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0333-x
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVE:Our purpose was to assess and clarify the mechanism of whether an early progesterone rise in cycles with gonadotropin-releasing hormone agonist (GnRH-a) is associated with an impairment of IVF outcome. METHODS:Seven hundred eighty-six cycles were induced with GnRH-a and human menopausal gonodotropin (hMG) ("...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02065937
更新日期:1996-03-01 00:00:00
abstract::Thirty cycles of microsurgical epididymal sperm aspiration were performed on 27 patients presenting agenesia of the vas deferens. Two techniques of microinsemination were used, depending on the quality of the sperm preparation: subzonal sperm microinjection and microdroplet insemination. The results obtained by both m...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02070149
更新日期:1996-04-01 00:00:00
abstract:BACKGROUND:In previous studies, higher progesterone secretion was observed in mature versus immature cumulusoocyte complexes. In mature cumulus mass that become homogeneously spread in culture (type C/D) progesterone secretion was higher than in partially (type B) or totally (type A) aggregated morphology. In sharp con...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02765828
更新日期:1997-05-01 00:00:00
abstract:PURPOSE:To compare national trends and perinatal outcomes following the use of ejaculated versus surgically acquired sperm among IVF cycles with male factor infertility. METHODS:This retrospective cohort includes US fertility clinics reporting to the National ART Surveillance System between 2004 and 2015. Fresh, non-d...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1178-5
更新日期:2018-07-01 00:00:00
abstract:PURPOSE:The purpose of this study was to investigate the chromosomal constitution and the developmental potential of intracytoplasmic sperm injection (ICSI) deriving embryos displaying a single pronucleus at the zygote stage. METHODS:Eighty-eight embryos from single pronucleus (1PN) two polar bodies (2PB) ICSI zygotes...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0937-z
更新日期:2017-07-01 00:00:00
abstract:PURPOSE:A large part of infertility treatment involves the use of exogenous gonadotropins. The last decade has seen a progressive switch from human menopausal gonadotropin (hMG), the original gonadotropin product, to progressively more costly products, primarily or exclusively containing follicle-stimulating hormone (F...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1009477523136
更新日期:2000-10-01 00:00:00
abstract:PURPOSE:The effect of coculturing mouse embryos with cryopreserved human oviduct epithelial cells was investigated. The cryopreserved cells in Cellbanker were thawed and cultured in Richard D. Goldsby culture medium to establish monolayers. Two-cell-stage mouse embryos were cultured alone (control group) or cocultured ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02214143
更新日期:1994-08-01 00:00:00
abstract:OBJECTIVE:This systematic review sought to evaluate the clinical outcomes of vitrification at the cleavage stage and blastocyst stage for embryo transfer in patients undergoing assisted reproductive technology (ART) treatment. METHODS:We searched for related comparative studies published in the PubMed, EMBASE, and Coc...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s10815-017-1040-1
更新日期:2018-01-01 00:00:00
abstract:PURPOSE:To explore the relationships between the soluble receptor for advanced glycation endproducts (sRAGE) and the outcome parameters following in vitro fertilization-embryo transfer (IVF-ET) in patients with polycystic ovary syndrome (PCOS) and investigate the protective effect of sRAGE in PCOS development regarding...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-016-0704-6
更新日期:2016-07-01 00:00:00
abstract:PURPOSE:High-quality motile human spermatozoa were obtained following treatment of semen by simultaneous swim-up into medium and swim-down into an isotonic 40% Percoll solution. RESULTS:This procedure was significantly better than the swim-up method and comparable to discontinuous Percoll gradient centrifugation. Reco...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF01204939
更新日期:1993-05-01 00:00:00
abstract:PURPOSE:To investigate two of the most studied estrogen receptor alpha polymorphisms (PvuII and XbaI) in combination, in order to evaluate their impact on an ART program outcome. METHODS:203 normally ovulating women who underwent IVF or ICSI treatment were genotyped for PvuII and XbaI polymorphisms in ESR1 intron 1 us...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-9971-7
更新日期:2013-04-01 00:00:00
abstract:PURPOSE:C-myc was studied in cyclooxygenase (COX)-2 associated granulosa cell apoptosis, METHODS:Granulosa cells (N = 5 cases) were incubated for 24 h in either 1 or 50 microM COX-2 inhibitor, 1 or 50 microM COX-1/COX-2 inhibitor, negative or positive controls Single primer polymerase chain reaction of c-myc exon 1 we...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1021215216246
更新日期:2002-12-01 00:00:00
abstract:PURPOSE:To study the effect of endometrial scratching in infertile couples undergoing ovulation induction and intrauterine insemination (IUI) cycles. METHODS:A prospective randomized controlled trial was conducted in the Department of Obstetrics and Gynaecology, AIIMS, New Delhi, India. One hundred forty-four women wi...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10815-017-0949-8
更新日期:2017-08-01 00:00:00
abstract:PURPOSE:To investigate the relation between mutations in ciliopathy-related SPAG6 and RSPH3 and male infertility with severe asthenoteratospermia characterized by multiple flagellar malformations and reveal the intracytoplasmic sperm injection (ICSI) outcomes of those primary ciliary dyskinesia (PCD) patients. METHODS...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01721-w
更新日期:2020-04-01 00:00:00
abstract:PURPOSE:This multicentered retrospective study analyzed whether the quantity of euploid blastocysts in a given cohort after comprehensive chromosomal screening can be used to identify candidates for single embryo transfer. METHODS:Blastocysts from 437 patients underwent trophectoderm biopsy followed by array comparati...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0217-0
更新日期:2014-06-01 00:00:00
abstract:PURPOSE:The etiology of fertilization failure and polyspermy during assisted reproductive technology (ART) remains elusive. The aim of this study was to determine whether mutations in the IZUMO1 receptor (IZUMO1R) gene, which is essential for mammalian fertilization, contribute to the pathogenesis of fertilization fail...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-1101-5
更新日期:2018-03-01 00:00:00
abstract::The rapid development of gene-editing technologies has led to an exponential rise in both basic and translational research initiatives studying molecular processes and investigating possible clinical applications. Early experiments using genome editing to study human embryo development have contradicted findings in st...
journal_title:Journal of assisted reproduction and genetics
pub_type: 社论
doi:10.1007/s10815-018-1219-0
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:To evaluate the impact of follicle rupture on pregnancy rate in intrauterine insemination. MATERIAL AND METHOD:Retrospective cohort study. Evidence of follicle rupture was assessed by transvaginal ultrasonography following IUI. Two hundred ninety-six couples with unexplained infertility and 121 couples with ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-008-9247-9
更新日期:2008-08-01 00:00:00
abstract:PURPOSE:To explore the effects of controlled ovarian stimulation (COS) on the expression of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) in oocytes and granulosa cells from patients with or without polycystic ovary syndrome (PCOS). METHODS:This case-control study was conducted in th...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0041-y
更新日期:2013-10-01 00:00:00
abstract:PURPOSE:To evaluate clinical outcomes of frozen-thawed embryo transfer cycles when one or two blastocysts are transferred. METHODS:Retrospective chart review RESULTS:Two hundred forty-three frozen blastocyst transfer (FBT) cycles were analyzed. Clinical pregnancy rate (50.4% vs. 34.7%), live birth rate (45.8% vs. 30....
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-011-9551-7
更新日期:2011-07-01 00:00:00