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. METHODS:By utilizing a universal Mutated Allele Revealed by Sequencing with Aneuploidy and Linkage Analyses (MARSALA) strategy based on low depth whole genome sequencing (~3x), not involving specific primers' design nor the enrichment of SNP markers for haplotype construction. Single-sperm cells and trephectoderm cells from in vitro fertilized embryos from a couple carrying HBB mutations were genotyped. Haplotypes of paternal alleles were constructed and investigated in embryos, and the chromosome copy number profiles were simultaneously analyzed. RESULTS:The universal MARSALA strategy allows the selection of a euploid embryo free of disease mutations for in uterus transfer and successful pregnancy. A follow-up amniocentesis was performed at 17 weeks of gestation to confirm the PGD/PGS results. CONCLUSION:We present the first successful PGD procedure based on genotyping multiple single-sperm cells to obtain SNP linkage information. Our improved PGD/PGS procedure does not require genotyping the proband or relevant family members and therefore can be applicable to a wider population of patients when conducting PGD for monogenic disorders.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Wu H,Shen X,Huang L,Zeng Y,Gao Y,Shao L,Lu B,Zhong Y,Miao B,Xu Y,Wang Y,Li Y,Xiong L,Lu S,Xie XS,Zhou Cdoi
10.1007/s10815-018-1158-9subject
Has Abstractpub_date
2018-06-01 00:00:00pages
1071-1078issue
6eissn
1058-0468issn
1573-7330pii
10.1007/s10815-018-1158-9journal_volume
35pub_type
杂志文章abstract：PURPOSE:Matrix metalloproteinases, MMP2 and MMP9, are found to have an important role during ovulation and pregnancy because of their capacity to degrade components of the extracellular matrix (ECM) thereby facilitating cell migration and angiogenesis. In this respect, the aim of the present study was to evaluate the a...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-0939-x
更新日期：2017-07-01 00:00:00
abstract：PURPOSE:The study aimed to investigate key intrafollicular prognostic factors among various cytokines and angiogenic molecules for prediction of mature oocytes and good-quality embryos in women with endometriosis undergoing in vitro fertilization (IVF). METHODS:Paired follicular fluid and serum samples were collected ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0782-5
更新日期：2016-10-01 00:00:00
abstract：PURPOSE:This study aimed to induce follicular wave emergence (FWE) using pharmacological (recombinant hCG administration) or mechanical (aspiration of dominant follicle) interventions in infertile women. METHODS:Sixteen infertile women (≤35 years) with indications for in vitro fertilization due to tubal and/or male fa...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s10815-015-0432-3
更新日期：2015-04-01 00:00:00
abstract：PURPOSE:To ensure the correct interpretation of the results of quantitative real-time reverse transcription-polymerase chain reaction (qRT-PCR) from ovarian tissue cryopreserved by vitrification, it is critical to normalize expression levels to a reference gene with stable messenger RNA (mRNA) expression in the vitrifi...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-015-0503-5
更新日期：2015-08-01 00:00:00
abstract：:The original version of this article unfortunately contained a mistake. The middle initial of Douglas A. Mata was omitted. The original article has been corrected. ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,已发布勘误
doi：10.1007/s10815-017-1093-1
更新日期：2018-02-01 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 influence of sperm characteristics on the outcome of infertility treatment using intrauterine insemination (IUI). METHODS:Retrospective study of 431 infertility couples who underwent 1007 IUI treatment cycles from June 1999 to October 2002. Sperm parameters before and after preparation for IUI ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/b:jarg.0000031246.76666.f6
更新日期：2004-05-01 00:00:00
abstract：PURPOSE:Ovarian torsion is a surgical emergency that can be clinically challenging to diagnose. Patients who have received assisted reproductive technologies (ART) are a subset of women with an increased risk for torsion. As the ART population continues to increase, there is a need to delineate risk factors for the dev...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-0901-y
更新日期：2017-05-01 00:00:00
abstract：PURPOSE:To determine the pattern of expression of parathyroid hormone-related protein (PTHrP) and its receptor, parathyroid hormone receptor 1 (PTHR1), in mouse embryos in different stages of preimplantation development. METHODS:Embryos were cultured from the pronuclear zygote stage and harvested as 2-cell, 4-cell and...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0094-y
更新日期：2013-08-01 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
abstract：PURPOSE:To compare the results of intracytoplasmic morphologically selected sperm injection (IMSI) between cycles in which the swim-up (SUP) or the density gradient centrifugation (DGC) techniques were used for sperm preparation. METHODS:We evaluated 70 IMSI cycles performed in women with age ≤ 37 years, undergoing IM...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-9989-x
更新日期：2013-06-01 00:00:00
abstract：PURPOSE:To evaluate the relative cost-effectiveness of recombinant and urinary follicle-stimulating hormone (FSH) in assisted reproduction techniques in the Spanish National Health Service. METHODS:Markov modelling was used to compare costs and outcomes of three complete treatment cycles using recombinant or urinary F...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1024899806149
更新日期：2003-08-01 00:00:00
abstract：PURPOSE:What are the specific pathways that lead women to freeze their eggs? In this binational study, women were asked directly about the life circumstances that led them on the path to elective egg freezing (EEF). METHODS:From June 2014 to August 2016, 150 women (114 in the USA, 36 in Israel) who had completed at le...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-018-1277-3
更新日期：2018-11-01 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：:With the increased rate of stable remission after gonadotoxic cancer treatment, new methods of fertility preservation are required in order to provide the best possible care for oncological patients. Here, we report an original case of euploid blastocyst cryopreservation after in vitro maturation of ovarian tissue ooc...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01729-2
更新日期：2020-04-01 00:00:00
abstract：PURPOSE:This study was designed to evaluate patient management and quality of information given by French oncologists to cancer women concerning fertility issues and possibilities of fertility preservation. METHODS:An online survey was sent to 1161 physicians in all major cancer centers throughout France between May 2...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-018-1251-0
更新日期：2018-10-01 00:00:00
abstract：PURPOSE:To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS). METHODS:Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromos...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-02031-x
更新日期：2021-01-16 00:00:00
abstract：PURPOSE:How can elective egg freezing (EEF) be made patient centered? This study asked women to reflect on their experiences of EEF, which included their insights and recommendations on the optimal delivery of patient-centered care. METHODS:In this binational, qualitative study, 150 women (114 in the USA, 36 in Israel...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-019-01481-2
更新日期：2019-06-01 00:00:00
abstract：PURPOSE:To evaluate if several genetic loci that are associated with variation in normal menopause age and early menopause can account for a poor response to controlled ovarian stimulation. METHODS:A total of 71 patients age ≤35 years old who were undergoing intracytoplasmic sperm injection were genotyped for four gen...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9735-9
更新日期：2012-05-01 00:00:00
abstract：PURPOSE:To determine the expression of SMAD transcripts in human granulosa cells. METHODS:Luteinized mural granulosa cells were harvested from forty women undergoing oocyte retrieval, and RNAs were isolated. SMAD expression levels were determined by polymerase chain reaction (PCR) and quantitative real-time PCR (q-RTP...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-011-9609-6
更新日期：2011-09-01 00:00:00
abstract：PURPOSE:The objective of this study was to examine the effect of superovulatory doses of gonadotropins on the frequency of chromosomal abnormalities of mouse embryos. METHODS:Chromosome analysis of 8- to 16-cell stage mouse embryos and zygotes was performed by a cytogenetic method. RESULTS:There was no significant ef...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02766134
更新日期：1997-03-01 00:00:00
abstract：PURPOSE:Human reproduction is an inefficient process. There is a high rate of loss of early pregnancies, often before the mother (or physician) knows she is pregnant. Genetic abnormalities can explain much of the wastage, but can it explain all of the failures? As embryos bear paternal and embryonic antigens foreign to...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1023/a:1021788024214
更新日期：2003-02-01 00:00:00
abstract：PURPOSE:To our knowledge, little is known about the effect of polarized and non-polarized uterine epithelial cells on cryopreserved embryo growth. This study was, therefore, set up to investigate the effect of these monolayers together with sequential culture media on vitrified-warmed mouse embryos in terms of blastocy...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-008-9231-4
更新日期：2008-06-01 00:00:00
abstract：PURPOSE:To test the effects of type of embryo transfer catheter, transfer difficulty, and observations after the transfer procedure on pregnancy and implantation rates in an IVF programme. METHODS:Patients were prepared for IVF using standard protocols. Embryo transfer was performed using either Edwards-Wallace or TDT...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1014054421789
更新日期：2002-01-01 00:00:00
abstract：PURPOSE:Although ovarian tissue transportation has been validated for up to 24 h, there is no standard protocol to date. We aimed to elucidate how existing media currently used for ovarian tissue transportation affect ovarian tissue metabolism and cell viability. METHODS:Cow ovarian fragments were immersed in 0.9% NaC...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01935-y
更新日期：2020-10-01 00:00:00
abstract：PURPOSE:The mouse preimplantation embryo development (Ped) gene product, Qa-2, which is the homolog of human HLA-G, influences the rate of preimplantation embryonic development and overall reproductive success. The sex ratio in preimplantation embryos from Ped gene congenic mice was examined in order to determine wheth...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-006-9046-0
更新日期：2006-07-01 00:00:00
abstract：PURPOSE:To identify differentially expressed microRNAs (miRNAs) and expression patterns of specific miRNAs during meiosis in human oocytes. MATERIALS AND METHODS:To identify differentially expressed miRNAs, GV oocytes and MII oocytes matured at conventional FSH levels (5.5 ng/ml) were analyzed by miRNA microarray. Rea...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-011-9590-0
更新日期：2011-06-01 00:00:00
abstract：PURPOSE:The results obtained with a protocol consisting of ovarian stimulation with low doses of highly purified FSH (FSH HP), administration of a GnRH analogue to induce an endogenous surge of gonadotropins, and IUI were evaluated. These results were compared with those seen with similar FSH stimulation and hCG admini...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1021127410300
更新日期：1997-10-01 00:00:00
abstract：PURPOSE:To evaluate the effect of the individual physician performing embryo transfer, on clinical pregnancy rates. METHOD:Data from a total of 485 consecutive embryo transfers performed on 485 women aged 23-37 years were prospectively collected for this study. All patients underwent a standard downregulation long pro...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-006-9032-6
更新日期：2006-07-01 00:00:00
abstract：:Gender selection by PGD is an appropriate use of medical resources. Children borne through PGD for gender determination would be welcome and would come into a couple's life at a planned, opportune time. If the practice were made more available through insurance coverage, the size and makeup of families could become a ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1016871925450
更新日期：2002-09-01 00:00:00
