Abstract：
PURPOSE:Single-cell nested polymerase chain reaction (PCR) and Ddel endonuclease digestion were used to detect the presence of a Marfan's syndrome mutation in human preimplantation embryos derived from in vitro fertilization (IVF). These procedures were conducted to eliminate the possibility of transmission of the affected allele from the father to his offspring. The mutation on chromosome 15 is transmitted as an autosomal dominant trait, and the chance of having a child affected with the disease is 50%. METHODS:A couple presented to the Program for In Vitro Fertilization, Reproductive Surgery and Infertility for preimplantation genetic diagnosis. IVF was performed and embryo biopsy was done on day 3 embryos. Single blastomeres were removed from embryos and subjected to nested PCR analysis and endonuclease digestion to detect a Marfan's syndrome mutation located on chromosome 15 inherited from the father. RESULTS:Thirteen oocytes were injected with spermatozoa using intracytoplasmic sperm injection, and nine fertilized normally. Following embryo biopsy and polymerase chain reaction amplification-Ddel endonuclease digestion, five embryos were detected that were positive for the mutation. The four non-affected embryos were transferred to the uterus, resulting in a healthy and normal ongoing pregnancy.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Blaszczyk A,Tang YX,Dietz HC,Adler A,Berkeley AS,Krey LC,Grifo JAdoi
10.1023/a:1022540410290subject
Has Abstractpub_date
1998-05-01 00:00:00pages
281-4issue
5eissn
1058-0468issn
1573-7330journal_volume
15pub_type
杂志文章abstract：PURPOSE:Spermatogonial stem cells are affected by the interactions of extrinsic signals produced by components of the microenvironment niche, in addition to the chemical and physical properties of the extracellular matrix. Therefore, this study was initiated to assess the interaction of these cells on a synthetic nanof...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9916-6
更新日期：2013-03-01 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: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:To review the current literature regarding the role of vitamin D status in pregnancy outcomes in women undergoing assisted reproductive technology (ART) and to assess cost-effectiveness of routine vitamin D deficiency screening and repletion prior to initiation of ART. METHODS:A systematic literature review wa...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-014-0407-9
更新日期：2015-03-01 00:00:00
abstract：:We report a case of a couple with a history of six spontaneous miscarriages in which a novel complex chromosomal rearrangement was detected in the male partner who had a totally normal semen analysis. Preimplantation genetic testing of their embryos demonstrated 100% aneuploidy. ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-018-1126-4
更新日期：2018-05-01 00:00:00
abstract：PURPOSE:The purpose of this study was to investigate a novel mutation in the luteinizing hormone beta-subunit (LHB) gene in one male patient with hypogonadism due to selective luteinizing hormone (LH) deficiency. METHODS:Sanger sequencing of one 28-year-old man born to consanguineous parents was performed. Treatment w...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-018-1133-5
更新日期：2018-05-01 00:00:00
abstract：PURPOSE:Bacterial contamination may cause loss or damage to cultured oocytes or embryos, resulting in cancelation or delaying of a fresh embryo transfer. While live births have been reported following the transfer of embryos contaminated with yeast, very little information is available on how to handle embryos with bac...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0776-3
更新日期：2016-10-01 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 evaluate the relationship between oocyte dysmorphisms and IMSI outcomes METHODS:Data of IMSI cycles performed in 332 patients were included in this study. Patients were included only if presented more than four and less than 30 oocytes upon oocyte retrieval. Patients who underwent IMSI were matched, concern...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9868-x
更新日期：2012-11-01 00:00:00
abstract：:We present a case of heterotopic pregnancy occurring after ET of pronuclear-stage embryos. This case demonstrates that pronuclear embryos have a good implantation potential and suggests that the potentially adverse effect of high follicular-phase serum progesterone levels on endometrial development might be offset by ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF01212937
更新日期：1993-10-01 00:00:00
abstract：:MicroRNAs (miRNAs) are small, about 22 nucleotides, non-coding RNAs which regulate a wide range of gene expression during post-transcriptional stage. They are released into intra- and extracellular microenvironments and play vital roles in different physiological and pathological pathways. Due to easy accessibility, d...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-020-01860-0
更新日期：2020-08-01 00:00:00
abstract：PURPOSE:Embryonic poly(A)-binding protein (EPAB) and poly(A)-binding protein, cytoplasmic 1 (PABPC1) bind poly(A) tails of mRNAs and mediate their translational regulation in germ cells and early preimplantation embryos. Although expression patterns and possible functions of the Epab and Pabpc1 genes have been examined...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0362-5
更新日期：2015-01-01 00:00:00
abstract：:The incorporation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing into patient care algorithms has been proposed to mitigate risk. However, the two main professional societies for human reproduction (ESHRE and ASRM) appear divergent on their clinical utility and whether they should be adopted. ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-020-01887-3
更新日期：2020-08-01 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:The purpose of this study was to examine the efficacy of an ovarian tissue transportation network for fertility preservation (FP) for cancer patients in Japan. METHODS:PubMed was searched for papers on transportation of human ovarian tissue for FP. We analyzed population, area, number of cancer patients for ov...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-017-1022-3
更新日期：2017-11-01 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:Women conceiving naturally and delivering after age 45 are an exceptionally fertile population that may serve as a model to identify factors associated with delayed reproductive aging. This work studies this phenomenon in Bedouin women. METHODS:The study is an observational retrospective analysis of all Bedoui...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-006-9058-9
更新日期：2006-07-01 00:00:00
abstract：PURPOSE:To investigate whether the success rate of ICSI is (1) related to the etiology of infertility or (2) adversely affected by a family history of potential genetic disorders. METHODS:All men with an ICSI indication in our hospital between 1994 and 2005 were included in our cohort study. Data on the ICSI process, ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-009-9315-9
更新日期：2009-06-01 00:00:00
abstract：PURPOSE:The aim of this study was to investigate possible seasonal changes in human sperm parameters, especially chromatin condensation. METHOD:In a first run, 3155 patients attending the andrological outpatient clinic at the Centre of Dermatology and Andrology at Justus Liebig University, Giessen, Germany, from Janua...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1016618405570
更新日期：2001-07-01 00:00:00
abstract：BACKGROUND:Polycystic ovary syndrome (PCOS), whose genetic basis is not completely well understood, is the most common endocrine disorder in women and it typically develops during adolescence. The aim of this study is to investigate the possible association between single nucleotide polymorphisms (SNPs) of FSHR, CYP17,...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-009-9308-8
更新日期：2009-04-01 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：PURPOSE:To compare the clinical outcome of IVF treatment after pituitary suppression with two different oral contraceptives (OCs). METHODS:65 patients who received IVF treatment was classified into 2 groups based on the difference of OCs they used for pituitary suppression before ovarian hyperstimulation. Group 1 incl...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-006-9056-y
更新日期：2006-07-01 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:To date, the methods available for isolating spermatogonial stem cells (SSCs) from porcine testicular cells have a low efficiency of cell separating. Therefore, we tried to develop a novel isolation technique with a high-yield cell separating ability to isolate SSCs from porcine testes. METHODS:We confirmed th...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0271-7
更新日期：2014-08-01 00:00:00
abstract：PURPOSE:To conduct a prospective randomized study in order to investigate the effect of recombinant HCG (rHCG) on oocyte nuclear and cytoplasm maturity compared to urinary HCG (uHCG), for inducing ovulation in women treated with ICSI for male factor infertility. MATERIALS AND METHODS:We compared 89 patients randomly a...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s10815-008-9262-x
更新日期：2008-09-01 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：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：:Sperm is not a simple carrier of paternal genetic information but its role extends clearly beyond fertilization. Integrity of sperm genome is an essential pre-requisite for birth of healthy offspring and evaluation of sperm should entail DNA integrity analysis. DNA integrity analysis is a better diagnostic and prognos...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-011-9631-8
更新日期：2011-11-01 00:00:00
abstract：PURPOSE:To ascertain possible cell damage from cryopreservation, the ultrastructure of human oocytes cryopreserved by slow cooling was assessed. MATERIALS AND METHODS:Cryopreservation was performed through two protocols with one-step or two-step propanediol. Fresh control oocytes were examined for comparison. Samples ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-010-9394-7
更新日期：2010-04-01 00:00:00
abstract：:Recent publicized events of cryogenic storage tank failures have created nationwide concern among infertility patients and patients storing embryos and gametes for future use. To assure patient confidence, quality management (QM) plans applied by in vitro fertilization (IVF) laboratories need to include a more compreh...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-018-1310-6
更新日期：2019-01-01 00:00:00
