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 chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications. RESULTS:A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 160 patients and male family members who had no microdeletions detected by STS-PCR, 51 cases were found to exhibit Y chromosome structural variations by the NGS method (31.88%, 51/160). No microdeletions were found in 46 donors by STS-PCR, but the NGS method revealed 11 of these donors (23.91%, 11/46) carried structural variations, which were mainly in the AZFc region, including partial deletions and duplications. CONCLUSION:The established NGS method can replace the conventional STS-PCR method to detect Y chromosome microdeletions. The NGS method can detect CNV, such as partial deletion or duplication, and provide details of the abnormal range and size of variations.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Liu X,Zhang H,Zhang X,Zhang H,Jiang Y,Liu R,Fei J,Wang Y,Yu Ydoi
10.1007/s10815-020-02031-xsubject
Has Abstractpub_date
2021-01-16 00:00:00eissn
1058-0468issn
1573-7330pii
10.1007/s10815-020-02031-xpub_type
杂志文章abstract：:Artificial intelligence (AI) has been proposed as a potential tool to help address many of the existing problems related with empirical or subjective assessments of clinical and embryological decision points during the treatment of infertility. AI technologies are reviewed and potential areas of implementation of algo...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01950-z
更新日期：2020-11-01 00:00:00
abstract：PURPOSE:To evaluate whether ejaculated human spermatozoa undergo complete apoptosis or necrosis during experimental semen bacterial infection in vitro. METHODS:Apoptotic markers, including mitochondrial transmembrane potential (ΔΨm), phosphatidylserine (PS) externalization, and DNA fragmentation, have been detected si...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-015-0462-x
更新日期：2015-05-01 00:00:00
abstract：OBJECTIVE:To report cases of in vitro fertilization-frozen embryo transfer (IVF-FET) with single blastocyst transfer resulting in di- or tri-chorionic pregnancies, and to review the literature on monozygotic, multi-chorionic pregnancies originating at the blastocyst stage. DESIGN:Retrospective case series and literatu...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-018-1329-8
更新日期：2018-12-01 00:00:00
abstract：PURPOSE:The IGF signaling cascade exerts important regulatory functions in human ovarian folliculogenesis. The scope of this study was to evaluate the transcription profile of insulin-like growth factor (IGF) genes during human ovarian follicle development and to analyze follicle fluid levels of key IGF proteins. METH...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-019-01432-x
更新日期：2019-05-01 00:00:00
abstract：PURPOSE:Investigate whether R72P on p53 gene polymorphism has a higher prevalence among women with a history of recurrent implantation failure (RIF) and pregnancy loss (RPL) and its influence in their IVF cycle outcome. MATERIAL AND METHODS:p53 polymorphism R72P has been studied in 181 women. The control group include...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0147-2
更新日期：2014-02-01 00:00:00
abstract：:The use of immature oocytes subjected to in vitro maturation (IVM) opens interesting perspectives for fertility preservation where ovarian reserves are damaged by pathologies or therapies, as in PCO/PCOS and cancer patients. Human oocyte cryopreservation may offer some advantages compared to embryo freezing, such as f...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-017-1005-4
更新日期：2017-11-01 00:00:00
abstract：:In the fertility clinic setting, a negative DNA paternity test result usually suggests a sample mix-up likely occurred at the testing company or in the clinic. However, we report a case where, despite repeat negative paternity test results, the alleged father (referred to as "the proband") was confirmed to be the baby...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-1064-6
更新日期：2018-02-01 00:00:00
abstract：PURPOSE:To observe the differences in pregnancy rates (PRs), delivery rates, and abortion rates associated with frozen-embryo-transfer (FET)-based use of post-thawing embryos with different numbers of blastomeres. METHODS:959 FET cycles and 361 successful FET cycles performed between January 2007 and December 2007. Co...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-009-9360-4
更新日期：2009-11-01 00:00:00
abstract：PURPOSE:To compare proteomic profiles of spermatozoa from patients with varicocele and poor sperm quality before and after varicocelectomy. METHODS:This work was designed as a prospective and observational study. The study was based on 20 men with varicocele grade 3 and poor sperm quality undergoing varicocelectomy at...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0209-0
更新日期：2014-06-01 00:00:00
abstract：PROBLEM:Numerous lines of evidence implicate Apolipoprotein E (Apo E) in lipid metabolism during pregnancy. Hence, a role for its polymorphism has been envisaged in recurrent pregnancy loss (RPL) considering major structural and functional differences between different Apo E genotypes. METHOD OF STUDY:A case control s...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9897-5
更新日期：2013-02-01 00:00:00
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: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:The objectives were to test how the source of oocytes and semen impacted vitrification of large numbers of bovine oocytes and subsequent IVF and early embryo development to test procedures that may assist with assisted reproductive technologies in humans. METHODS:Bovine oocytes were vitrified from follicles of...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-009-9362-2
更新日期：2009-11-01 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: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 assess the effect of wearing powdered gloves during embryo transfer as compared to un-powdered gloves on the pregnancy outcome of IVF cycles. METHODS:Patients, undergoing embryo transfer procedures, were prospectively randomized into two groups: In the first (group A, n=356) group embryo transfer was perfor...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-008-9285-3
更新日期：2009-01-01 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：: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
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:Endocrine disrupting compounds (EDCs) have been shown to affect multiple biologic processes especially steroid-hormone processes. We sought to determine differences in DNA methylation exists between women with and without endometriosis following exposure to polybrominated biphenyl (PBB). METHODS:Cross-sectiona...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01695-9
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：PURPOSE:The aim of this study was to explore the factors that influence the outcome of intrauterine human chorionic gonadotropin (hCG) infusion at the time of embryo transfer (ET), in particular, the effect of hCG infusions on fresh and frozen embryo transfers (FETs) and whether prior recurrent implantation failure (RI...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-1049-5
更新日期：2018-02-01 00:00:00
abstract：PURPOSE:To avoid inducing a state of oxidative stress (OS), assisted reproductive technologies (ART) must maintain a balance of reactive oxygen species (ROS) and antioxidants during the in vitro culture of oocytes. However, oocyte requirements and tolerance thresholds for ROS during in vivo development are still unclea...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9925-5
更新日期：2013-03-01 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: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:Dyslipidemia, cardiovascular disease and hypertension are more frequently seen in patients with PCOS than in normal patients. We aimed at evaluating the distribution of Apo E alleles that can influence cardiovascular risk of the PCOS patients and control subjects. METHODS:In this study, 129 young women with PC...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-008-9280-8
更新日期：2009-01-01 00:00:00
abstract：PURPOSE:The purpose of this study is to perform a retrospective analysis of types and frequencies of chromosomal abnormalities detected by conventional cytogenetic studies in first-trimester miscarriages after spontaneous conception and IVF. METHODS:Standard cytogenetic analysis of GTG-banded chromosomes obtained from...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-1069-1
更新日期：2018-02-01 00:00:00
abstract：PURPOSE:To (i) investigate a possible association between different features of pronuclear (PN) morphology and different features of blastocyst morphology, (ii) evaluate the combination of PN and blastocyst morphologies as a predictive factor for ICSI outcomes and (iii) identify possible contributing factors to poor PN...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0073-3
更新日期：2013-10-01 00:00:00
abstract：PURPOSE:To evaluate the frequency of abnormal prolactin and thyroid stimulating hormone (TSH) test results in ovulatory women with tubal factor infertility who were screened for in vitro fertilization (IVF). METHODS:Charts were identified from 112 ovulatory women with follicle stimulating hormone (FSH) < 20 mIU/ml who...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02211376
更新日期：1995-02-01 00:00:00
abstract：:Human proteins normally used to supplement human in vitro fertilization-embryo transfer (IVF-ET) culture media were tested for their effects on mouse embryo development from the zygote stage. These proteins included follicular and luteal-phase maternal sera, fetal cord sera, and both human and bovine serum albumin. Ou...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF01204114
更新日期：1992-02-01 00:00:00
