Abstract:
PURPOSE:To evaluate the efficacy of preimplantation genetic testing (PGT) for α- and β-double thalassemia combined with aneuploidy screening using next-generation sequencing (NGS). METHODS:An NGS-based PGT protocol was performed between 2017 and 2018 for twelve couples, each of which carried both α- and β-thalassemia mutations. Trophectoderm biopsy samples underwent whole-genome amplification using multiple displacement amplification (MDA), followed by NGS for thalassemia detection and aneuploidy screening. A selection of several informative single nucleotide polymorphisms (SNPs) established haplotypes. Aneuploidy screening was performed only on unaffected noncarriers and carriers. Unaffected and euploid embryos were transferred into the uterus through frozen-thawed embryo transfer (FET). RESULTS:A total of 280 oocytes were retrieved following 18 ovum pick-up (OPU) cycles, with 182 normally fertilized and 112 cultured to become blastocysts. One hundred and seven (95.5%, 107/112) blastocysts received conclusive PGT results, showing 56 (52.3%, 56/107) were unaffected. Thirty-seven (66.1%, 37/56) of the unaffected were also identified as euploid. One family had no transferable embryos. Unaffected and euploid embryos were then transferred into the uterus of the other 11 couples resulting in 11 healthy live births. The clinical pregnancy rate was 61.1% (11/18) per OPU and 68.8% (11/16) per FET, with no miscarriage reported. Seven families accepted the prenatal diagnosis and received consistent results with the NGS-based PGT. CONCLUSION:This study indicated that NGS could realize the simultaneous PGT of double thalassemia and aneuploidy screening in a reliable and accurate manner. Moreover, it eliminated the need for multiple biopsies, alleviating the potential damages to the pre-implanted blastocysts.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Chen D,Shen X,Wu C,Xu Y,Ding C,Zhang G,Xu Y,Zhou Cdoi
10.1007/s10815-020-01732-7subject
Has Abstractpub_date
2020-03-01 00:00:00pages
549-557issue
3eissn
1058-0468issn
1573-7330pii
10.1007/s10815-020-01732-7journal_volume
37pub_type
杂志文章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:OBJECTIVE:To investigate the usefulness of preimplantation genetic diagnosis (PGD) based on mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) for a pedigree with X-linked retinitis pigmentosa (XLRP). METHODS:One pathogenic mutation (c.494G > A) of the retinitis pigmentosa GTPase regu...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01434-9
更新日期:2019-05-01 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
abstract::The purpose of this clinical trial study was to report the outcome of intracytoplasmic injection of round (RS) and elongated (ES) spermatids retrieved from the testis of nonobstructive men. Seven and three cycles using RS and ES injections were performed, respectively. Only one cycle utilizing the late stage of ES (Sd...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章
doi:10.1023/a:1014447731630
更新日期:2002-02-01 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:PURPOSE:Our purpose was to determine if pregnancy rates (PRs) for hMG (human menopausal gonadotropin)-stimulated IVF-ET (in vitro fertilization--embryo transfer) can be increased by estradiol (E2) supplementation from the early proliferative phase to the late secretory phase of the endometrium. METHOD:Eighty-one infer...
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:10.1023/a:1009445913156
更新日期:2000-01-01 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 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 evaluate if preimplantation genetic testing (PGT) improves the odds of a healthy live birth amongst recipients of fresh donor oocytes. METHODS:We performed a retrospective cohort study including in vitro fertilization cycles of women using fresh donor oocytes reported to the Society for Assisted Reproductiv...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01874-8
更新日期:2020-09-01 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:The purpose of this study is to compare the results of ART treatment in patients with and without endometriosis in a large cohort of patients from different centers over an extented period of time. METHODS:This retrospective study is using data from patients undergoing 27,294 cycles of IVF/ICSI treatment betwe...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1214-5
更新日期:2018-08-01 00:00:00
abstract:PURPOSE:The aim of this analysis was to study whether monozygotic twinning (MZT) events occur in clusters after IVF and, if so, to explore possible explanations for this clustering. METHODS:This is a retrospective cohort study carried out in a single, large university-affiliated reproductive medicine practice. Medical...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-015-0616-x
更新日期:2016-01-01 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: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:Our purpose was to show that fertilization of oocytes can be obtained solely by laser light-mediated manipulation of gametes. METHOD:A small channel was drilled into the zona pellucida of bovine oocytes using an ultraviolet (UV)-laser microbeam. Highly diluted cattle sperm were not able to fertilize the laser ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02065947
更新日期:1996-03-01 00:00:00
abstract:PURPOSE:To use conflict resolution analysis on the conflict between proponents and opponents of preimplantation genetic testing for aneuploidy (PGT-A), previously called preimplantation genetic screening (PGS). METHODS:Considered in conflict analysis a case study, we reviewed the English literature based on key-word s...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01688-8
更新日期:2020-03-01 00:00:00
abstract:PURPOSE:The aim of this study was to investigate whether polymorphisms in the tissue inhibitor of metalloproteinase 3 gene (TIMP3) are associated with the risk of preeclampsia (PE) in Han Chinese women. METHODS:Nine single TIMP3 tag-single nucleotide polymorphisms were selected by Haploview and genotyped using the Seq...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-015-0529-8
更新日期:2015-10-01 00:00:00
abstract:PURPOSE:A pilot study was performed to test the diagnostic value of in vitro DNA fluorescence in oocytes that failed to fertilize after IVF. Ten patients with a cleavage rate less than 20% after IVF were included. RESULTS:Uncleaved oocytes were observed by fluorescence microscopy after incubation with the DNA fluoresc...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01204255
更新日期:1992-12-01 00:00:00
abstract:PURPOSE:Retinal pigment epithelium cells derived from human embryonic stem cells (ESCs) could be useful for restoring retinal function in age-related macular degeneration. However the use of non-human feeder cells to support the growth of ESCs for clinical applications raises the concern of possible contamination becau...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9802-2
更新日期:2012-08-01 00:00:00
abstract:PURPOSE:Zona thinning (ZT) is a technique used to improve pregnancy rates among patients > or = 38 years old and/or patients presenting previous implantation failure. The objective of the study was to determine whether ZT has a beneficial effect on patients younger than 37 years who are undergoing the first ICSI attemp...
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:10.1023/a:1026481729632
更新日期:2000-11-01 00:00:00
abstract:PURPOSE:To analyze best parameter to select embryos according to sperm origin in ICSI cycles. METHODS:One hundred seventy-two ICSI cycles were divided among three different groups: A (ejaculated spermatozoa from nonmale factor infertility), B (ejaculated spermatozoa from oligospermia), and C (spermatozoa from azoosper...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1021286119979
更新日期:2003-01-01 00:00:00
abstract:PURPOSE:To identify, appraise, and assess clinical practice guidelines informing patient counseling on female age-related fertility decline. METHODS:Searched electronic database records from January 1, 2006, to September 10, 2018, and professional society websites. The search terms included iterations of "guideline," ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01967-4
更新日期:2021-01-01 00:00:00
abstract:RESEARCH QUESTION:Granulosa cells (GCs) surrounding oocytes are crucial for follicular growth, oocyte development, ovulation, and luteinization under the dynamic co-stimulation of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This study aimed to investigate the effect of LH levels on GCs in preovulat...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-021-02066-8
更新日期:2021-01-14 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 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:The purpose of this study is to to compare the efficacy of intravaginal culture (IVC) of embryos in INVOcell™ (INVO Bioscience, MA, USA) to traditional in vitro fertilization (IVF) incubators in a laboratory setting using a mild pre-determined stimulation regimen based solely on anti-mullerian hormone (AMH) and...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10815-016-0661-0
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVE:The exact chemical composition of hydrosalpingeal fluid is unknown. The objective of this study was to characterize cytokines in hydrosalpingeal fluid (HSF) and examine their possible role in the embryo development. STUDY DESIGN:HSF was aspirated at laparoscopic salpingectomy in eight infertile women. Levels...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-005-4913-7
更新日期:2005-04-01 00:00:00
abstract:PURPOSE:To select reference genes with stable messenger RNA (mRNA) expression for quantitative real-time reverse transcription-polymerase chain reaction (qRT-PCR) analysis of vitrified/thawed human ovarian tissue and to evaluate in human ovarian tissue the levels of key proteins which are commonly used as reference pro...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1263-9
更新日期:2018-10-01 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: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