Abstract:
PURPOSE:Our purpose was to achieve preimplantation genetic diagnosis (PGD) of the dominant cancer predisposition syndrome, familial adenomatous polyposis coli (FAPC), as an alternative to prenatal diagnosis. METHODS:The affected patient was superovulated and oocytes were retrieved and fertilized by intracytoplasmic sperm injection (ICSI). Two cells were biopsied from each embryo and the whole genome was amplified by primer extension preamplification (PEP). Nested PCR was then used to amplify two APC fragments: one including the APC mutation site and the other an informative intragenic polymorphism. Both were detected by simultaneous single-strand conformation polymorphism and heteroduplex analysis. RESULTS:Four normally fertilized embryos were biopsied on day 3 post ICSI, and two cells were successfully removed from each embryo. Following PEP the APC mutation was successfully amplified in 7 of 8 cells, and the polymorphism in 6 of 8 cells. The APC mutation was detected in three embryos. This result was confirmed by identification of the mutation associated polymorphism in two cases. A single embryo was diagnosed as homozygous normal for the mutation and the polymorphism in both cells sampled. This unaffected embryo was transferred to the mother, but no pregnancy resulted. CONCLUSIONS:We report here the first diagnosis of a cancer predisposition syndrome in human preimplantation embryos. Our results indicate that difficulties associated with single-cell PCR, allele-specific amplification failure in particular, need not prevent preimplantation diagnosis of diseases with a dominant mode of inheritance, provided appropriate strategies are applied.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Ao A,Wells D,Handyside AH,Winston RM,Delhanty JDdoi
10.1023/a:1023008921386subject
Has Abstractpub_date
1998-03-01 00:00:00pages
140-4issue
3eissn
1058-0468issn
1573-7330journal_volume
15pub_type
杂志文章abstract:PURPOSE:Murine two-cell embryos (n = 5573) were cultured for 96 hr in human tubal fluid (HTF) medium (n = 2709) or alpha modification of minimum essential medium (MEM; n = 2864) through the hatched blastocyst stage from mid-1990 to mid-1991. An additional 373 embryos were cultured in MEM or HTF with 0, 1, 5, or 10 ng/m...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01239220
更新日期:1993-04-01 00:00:00
abstract:PURPOSE:To investigate the prognostic significance of apoptosis in granulosa cells recovered from patients participating in IVF-ET. METHODS:Seventy-three women underwent ovarian hyperstimulation for IVF and embryo transfer. After follicle aspiration, recovered granulosa cells were stained by BCL2 monoclonal antibody w...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1015319617598
更新日期:2002-05-01 00:00:00
abstract:PURPOSE:To establish a ratio of the P level to the number of follicles (P/F ratio) on the day of human chorionic gonadotropin (hCG) administration and to evaluate whether this ratio is associated with in vitro fertilization (IVF) outcome. METHODS:This study was conducted between January 2012 and June 2013. A total of ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-015-0487-1
更新日期:2015-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the feasibility of adjusted mitochondrial DNA quantification in human embryos as a biomarker for implantation potential. DESIGN:Double-blind, observational, prospective analysis of an Asian population in a single university-affiliated in vitro fertilization center. A total of 1617 embryos derived...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01542-6
更新日期:2019-09-01 00:00:00
abstract:PURPOSE:The aim of this study was to investigate the association between two common single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor (VEGF) gene (-460C/T and +405G/C) and polycystic ovary syndrome (PCOS) risk in south Indian women. METHODS:This study involves clinically confirmed PCOS p...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0310-4
更新日期:2014-10-01 00:00:00
abstract:PURPOSE:In the present study, fertilization and developmental potential of mouse oocytes matured in different conditions were tested. The efficiency of in vitro fertilization (IVF), pre-implantation development and some important aspects of cytokinesis during early cleavages are discussed. METHODS:In vivo matured (IVO...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0363-4
更新日期:2015-01-01 00:00:00
abstract:PURPOSE:To investigate the potential etiologies of premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR). METHODS:Fourteen women with sporadic POI and 6 women with DOR were enrolled. We used whole-exome sequencing (WES) and bioinformatics analysis to identify variants in a subset of 599 selected P...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01919-y
更新日期:2020-10-01 00:00:00
abstract:PURPOSE:To compare effectiveness of two different chemical zona thinning techniques. METHOD:We studied 163 patients who had experienced IVF or ICSI failures in two or more cycles. Patients were assigned to one of three groups: zona intact (n=72), partial thinning (n=59), or circumferential thinning (n=73). Before tran...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10815-007-9131-z
更新日期:2007-10-01 00:00:00
abstract:PURPOSE:To investigate interactions on gestational age among two environmental risk factors and four maternal genetic polymorphisms: organic solvents, passive smoking, CYP1A1 rs4646903 (MspI), EPHX1 rs2234922 (His139Arg), GSTT1 and PON2 rs12026 (Ala148Gly). METHODS:A pregnant women cohort was conducted at Beijing Yans...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0256-6
更新日期:2014-07-01 00:00:00
abstract:PURPOSE:There is no consensus yet in the literature on an optimal luteinizing hormone (LH) level for human chorionic gonadotrophin (hCG) trigger timing in patients undergoing frozen-thawed embryo transfer (FET) with modified natural cycles (mNC). The objective of our study was to compare the clinical results of hCG tri...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01974-5
更新日期:2020-12-01 00:00:00
abstract:PURPOSE:The aim was to assess the fertilizing capacity of spermatozoa cool-preserved in electrolyte-free (EF) solution. METHODS:Mouse spermatozoa were cool-preserved in EF solution and the acrosomal status of the spermatozoa was compared before and after preservation using chlortetracycline stain. Mouse oocytes were i...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1009449926015
更新日期:2000-08-01 00:00:00
abstract::Morphologic studies of the endometrium have demonstrated that varying the duration of an artificial follicular phase (AFP) in women with ovarian failure did not adversely affect its developmental capacity. The aim of this study was to evaluate whether such manipulations of endometrial stimulation could influence the p...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01203817
更新日期:1992-06-01 00:00:00
abstract:PURPOSE:To evaluate the efficiency of an original slow freezing protocol on the quality and function of human ovarian cortex. METHODS:Human ovarian tissues were cryopreserved using a freezing medium supplemented with propanediol and raffinose as cryoprotectants and antioxidants (L-glutamine, taurine). Samples were the...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9917-5
更新日期:2013-01-01 00:00:00
abstract:PURPOSE:To compare morphokinetic parameters and quality of embryos derived from GnRH antagonist ICSI cycles triggered either with GnRH agonist or standard hCG between matched groups of patients. METHODS:Morphokinetic parameters of embryos derived from matched first GnRH antagonist ICSI cycles triggered by GnRH agonist...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01953-w
更新日期:2020-11-01 00:00:00
abstract::The study aims to discuss the effects of aging on the male reproductive system. A systematic review was performed using PubMed from 1980 to 2014. Aging is a natural process comprising of irreversible changes due to a myriad of endogenous and environmental factors at the level of all organs and systems. In modern life,...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,评审
doi:10.1007/s10815-016-0663-y
更新日期:2016-04-01 00:00:00
abstract:PURPOSE:To investigate the impact of late follicular phase serum estradiol (E2) levels on implantation and pregnancy outcomes of cleavage stage cryopreserved/thawed embryos transferred in programmed cycles with exogenous hormonal replacement. METHODS:Retrospective cohort analysis of IVF patients with transfer of cryop...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0402-1
更新日期:2015-03-01 00:00:00
abstract::Embryo implantation is accompanied by a potent inflammatory response, and a gradient of cytokines and chemokines produced by endometrial cells supports the embryo-endometrial interaction. C-reactive protein (CRP) serves as an early marker of inflammation and recent studies have illustrated that controlled ovarian hype...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,评审
doi:10.1007/s10815-020-01924-1
更新日期:2020-11-01 00:00:00
abstract:PURPOSE:Surrogacy remains the only option for having a biologic child for a unique population of women with severe medical conditions. However, no study has looked at surrogacy outcome as a result of the type of ovarian stimulation of the intended mother [controlled ovarian stimulation (COH), modified natural cycle (MN...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0877-7
更新日期:2017-04-01 00:00:00
abstract:PURPOSE:Previous studies reported that patients with endometriosis had excess nitric oxide (NO) in the reproductive tract and poor embryo development in IVF cycles. This study aims to elucidate the effects of NO on early embryo development. METHODS:Zygotes from superovulated B6CBF1 mice were cultured to blastocysts in...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0045-7
更新日期:2013-08-01 00:00:00
abstract:PURPOSE:The etiology of maternal aging, a common cause of female factor infertility and a rate-limiting step in vitro fertilization (IVF) success, remains still unclear. Proteomic changes responsible for the impaired successful pregnancy outcome after IVF with aged blastocysts have not been yet evaluated. The objective...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-016-0842-x
更新日期:2017-02-01 00:00:00
abstract:PURPOSE:The purpose of this study was to determine the effect of stimulated and artificial endometrial preparation protocols on reproductive outcomes in frozen embryo transfer (FET) cycles. METHODS:We performed a retrospective study of 1926 FET cycles over a 3.5-year period in the Fertility Unit at a University Hospit...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-1078-0
更新日期:2018-03-01 00:00:00
abstract:PURPOSE:Oocyte in vitro maturation (IVM) is a patient-friendly reproductive technology but lower success rates than IVF have limited its uptake. Capacitation-IVM (CAPA-IVM) is an innovative new IVM system currently undergoing clinical evaluation. This study aimed to determine temporal effects of the pre-IVM phase of CA...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01610-x
更新日期:2020-01-01 00:00:00
abstract:PURPOSE:To describe controlled ovarian stimulation (COS) in a population of women with GATA2 deficiency, a genetic bone marrow failure syndrome, prior to allogeneic hematopoietic stem cell transplant METHODS: This is a retrospective case series of nine women with GATA2 deficiency who underwent oocyte preservation at a ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1146-0
更新日期:2018-07-01 00:00:00
abstract:PURPOSE:This prospective study was designed to investigate whether anti-Müllerian hormone (AMH) levels at basal and ovulation triggering day are associated with ovarian response and pregnancy outcome for in vitro fertilization (IVF). METHOD:60 infertility women undergoing IVF were prospectively studied. On day 3 of th...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-009-9332-8
更新日期:2009-07-01 00:00:00
abstract:PURPOSE:This study sought to identify a disease-related gene in a consanguineous Chinese family in which there were two premature ovarian insufficiency (POI) sisters. METHOD:We used whole-exome sequencing and Sanger sequencing to identify the disease-causing gene. Results were verified using an assay of mutant protein...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01675-8
更新日期:2020-02-01 00:00:00
abstract:PURPOSE:Oocyte competence is critical in success of assisted reproduction. Metabolic signaling between oocyte and cumulus cells within the cumulus-oocyte complex procure oocyte development. This study evaluated the relationship between respirometric activity of cumulus cells and maturity of corresponding oocytes. METH...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1271-9
更新日期:2018-10-01 00:00:00
abstract:PURPOSE:The aim of this study is to evaluate which cryopreservation protocol, freezing before or after swim-up, optimizes cryopreservation outcomes in terms of motile sperm count, motility, morphology, and viability, and also to establish whether sperm viability could be assessed based on sperm motility. METHODS:Fifty...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-1050-z
更新日期:2018-02-01 00:00:00
abstract:PURPOSE:This paper aims to investigate the feasibility of performing pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) simultaneously by a universal strategy without the requirement of genotyping relevant affected family members or lengthy preliminary work on linkage analysis. METHO...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1158-9
更新日期:2018-06-01 00:00:00
abstract:PURPOSE:There is clinical evidence that early cleavage timing parameters predictive of blastocyst development also correlate with embryo implantation potential. The aim of this study is to determine the developmental competency of embryos with delayed blastulation. METHODS:Retrospective study performed from 2015 to 20...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01501-1
更新日期:2019-08-01 00:00:00
abstract:PURPOSE:Our purpose was to determine if controlled ovarian hyperstimulation adversely affects implantation. METHODS:A retrospective comparison of pregnancy rates (PRs) and implantation rates was made between oocyte recipients versus their donors, who shared half of the retrieved oocytes, and regular patients undergoin...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1020565408018
更新日期:1999-09-01 00:00:00