Journal of Assisted Reproduction and Genetics (J ASSIST REPROD GEN )

Publisher: ALPHA, Scientists in Reproductive Medicine, Springer Verlag


Journal of Assisted Reproduction and Genetics publishes original contributions and review articles covering human and animal data relevant to the process of in vitro fertilization and embryo replacement. Leading experts present the latest advances in new research areas that include assisted reproductive technologies; diagnostic and therapeutic procedures affecting the treatment of infertility; genetics of early gestation; laboratory sciences affecting the diagnosis and treatment of infertility; pharmacology of assisted reproduction; regulatory issues; technology of assisted reproduction. Published in association with the International Working Group on Preimplantation Genetics.

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    Journal of assisted reproduction and genetics (Online)
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Springer Verlag

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Publications in this journal

  • [Show abstract] [Hide abstract]
    ABSTRACT: Background Spermatogenesis is an intricate biological event wherein an undifferentiated spermatogonium develops into mature sperms. MicroRNAs are a type of single strand small non-coding RNA molecule and are implicated in the regulation of many crucial pathways during cell proliferation, apoptosis, and differentiation. Method Here, we present a comprehensive comparison of miRNA expression profiling in three main stages during porcine spermatogenesis using high-throughput sequencing. Results We built three small RNA libraries for the testis, the epididymis and the ejaculated sperm from a Landrace boar, and in total obtained 3821 precursor hairpins encoding for 4761 mature miRNAs, of which 23 are miRNA*. Notably, 940 precursor miRNAs produced both the 5’- and 3’- strands as sister pairs, indicating the distinctive expression patterns of germ cell miRNAs. Additionally, 418 out of 710 co-expressed miRNAs were identified as being differentially expressed between libraries (P Gene Ontology and KEGG pathway analysis revealed that the target genes of co-expressed miRNAs were highly involved in the cell cycle process, metal ion binding, modification of plasma membrane, and the p53 signal pathway.
    Journal of Assisted Reproduction and Genetics 01/2015;
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    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 cryopreserved-thawed day-3 embryos in E2 and progesterone (P4) supplemented cycles (n = 208 cycles). Main outcome measures: implantation and pregnancy rates according to late follicular phase serum E2 levels and early secretory phase E2/P4 ratios. Results Logistic regression performed for embryo implantation and for pregnancy outcome in relation to E2 (day 15), P4 (day 15 and 16), before (crude analysis) and after adjustment (adjusted analysis) for baseline characteristics (including age, BMI, serum basal cycle day 3 FSH levels, embryo quality, endometrial lining thickness) showed no significant association. Similarly, ROC analysis showed no impact of cycle day 16 E2/P4 ratio. Conclusions Neither late follicular phase serum E2 nor the early E2/P4 ratio were able to predict implantation or pregnancy outcome of day-3 cryopreserved-thawed embryos transferred in artificially programmed cycles.
    Journal of Assisted Reproduction and Genetics 01/2015;
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    ABSTRACT: Purpose To evaluate the effect of the nonsteroidal anti-inflammatory drugs tolfenamic acid and flunixin meglumine in pregnancy rate and embryo survival of recipient mice subjected to embryo transfer. Methods A total of 142 recipient females were transferred with 2,931 embryos and treated with a single injection of tolfenamic acid (1 mg/kg; n = 54 females with 1,129 embryos), flunixin meglumine (2.5 mg/kg; n = 46 females with 942 embryos), or bi-distilled water (10 mL/kg) as control group (n = 42 females with 860 embryos). Pregnancy was checked 2 weeks after embryo transfer, delivery was registered on the due date, and litter size was recorded on Day 7 after birth. Results Pregnancy rate of tolfenamic acid treated females was significantly higher than flunixin group (P P = 0.06). The number of pups born from transferred embryos in pregnant females was significantly higher for both treatment groups compared to controls (P P Conclusion The use of tolfenamic acid at the time of embryo transfer improves both pregnancy rate and number of live pups in recipient mice, with optimal effects observed with flunixin meglumine. We suggest that the use of tolfenamic acid has beneficial effects on the maintenance of pregnancy and embryo survival in recipient mice, which should be taken into account for further studies in other mammalian females.
    Journal of Assisted Reproduction and Genetics 01/2015;
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    ABSTRACT: Purpose To investigate the expression of GRIM-19 (Gene associated with retinoid-interferon-induced mortality 19) in mouse oocytes and preimplantation embryos, and to study the effect of GRIM-19 on the developmental competence of mouse oocytes and embryos. Methods GRIM-19 was evaluated at both mRNA and protein levels. The expression of GRIM-19 gene was downregulated in mouse oocytes cultured in vitro by specific small interfering RNA (siRNA) injection, while the activity of GRIM-19 was decreased by microinjection of a GRIM-19 antibody into the cytoplasm of germinal vesicle (GV) oocytes. Oocytes matured in vitro were then fertilized by intracytoplasmic sperm injection (ICSI), followed by observation and evaluation of fertilization rate, cleavage rate, blastocyst formation rate and implantation rate. Results GRIM-19 is expressed throughout oocyte maturation and preimplantation embryo development stages. GRIM-19 was localized primarily in the cytoplasm of all cells examined. Downregulation of gene expression and activity of GRIM-19 resulted in decreased oocyte viability, potency of oocyte maturation, embryo development and implantation. Conclusions GRIM-19 may play important roles in mouse oogenesis and early embryonic development and implantation.
    Journal of Assisted Reproduction and Genetics 01/2015;
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    ABSTRACT: IntroductionPreimplantation genetic diagnosis (PGD) of single gene defects by genetic analysis of single or small numbers of cells biopsied from in vitro fertilization (IVF) embryos is clinically well-established. Targeted haplotyping by multiplex fluorescent polymerase chain reaction (PCR) of closely linked or intragenic short tandem repeat (STR) markers combined with direct mutation detection improves the accuracy of single cell analysis significantly and minimizes potential errors caused by undetected allele dropout (ADO) or contamination [1]. Allele dropout refers to the failure of one of the two alleles of a heterozygous locus to amplify. This makes a heterozygous cell appear homozygous at the affected locus, potentially leading to misdiagnosis. Furthermore, using high order multiplex protocols, this approach has been extended to multiple loci, including analysis of the Human leukocyte antigen (HLA) region for selection of embryos tissue matched to existing sick children and diagn ...
    Journal of Assisted Reproduction and Genetics 01/2015;
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    ABSTRACT: Purpose The Fas-Fas Ligand interaction is one of the essential events for the induction of apoptosis whereas the exact role of their soluble forms in the reproductive system is still not fully understood. Also oxidative stress in the pathogenesis of infertility causing diseases in women and has been suggested as one of the important factors that negatively affect IVF outcome. In this study, our aim was to evaluate serum and follicular fluid levels of soluble Fas soluble Fas Ligand, malondialdehyde, superoxide dismutase and total antioxidant capacity in patients undergoing IVF and compared with controls. Methods This study included 109 patients. Patients were classified as unexplained infertility (N = 31), PCOS (N = 19), tubal factor (N = 9) and endometriosis (N = 10) and compared with male factor infertility (N = 40) that was the control group. sFas and sFasL levels were measured by immunoassay method. MDA, SOD and TAC levels were measured by colorimetric method. Results Patients with unexplained infertility, PCOS and tubal factor had significantly lower sFas levels compared with their controls (respectively, p p p p p p p p p p p Conclusion(s) In this study, serum and follicular fluid sFas levels were decreased and antioxidant activity was impaired in infertility, possibly implying increased apoptosis. Especially in unexplained infertility group changes in this parametres more remarkable.
    Journal of Assisted Reproduction and Genetics 12/2014;
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    ABSTRACT: Purpose To determine the factors that affect oocyte extraction efficiency when using the “combined procedure”. In the present “combined procedure” ovarian tissue cryopreservation and oocyte extraction from an isolated ovary, later used in In Vitro Maturation (IVM), are performed concurrently. Methods Data were analyzed retrospectively and obtained from the clinical records of 27 young breast cancer patients referred for fertility preservation. Results The patients’ mean age was 33.7 (±3.8) years, mean serum anti-Müllerian hormone (AMH) concentration was 3.5 (±2.1) ng/ml, and mean number of extracted oocytes was 8.3 (±6.1). The phase of menstruation (follicular or luteal) did not affect either the number of oocytes extracted (P = 0.99) nor oocyte survival or maturation rates. Likewise, the number of oocytes that could be extracted was not affected by the type of laparoscopic procedure (multiple-port or single-incision laparoscopy; P = 0.94) or the molecular subtype of breast cancer (either Luminal A or B; P = 0.52). Analysis revealed that the number of extracted oocytes was well-correlated with the patient’s AMH serum level and age (coefficient of correlation: 0.60 and −0.48, respectively). Conclusion We conclude that the outcome of the “combined procedure” primarily depends upon the patient’s serum AMH level and age. Importantly, the “combined procedure” may be used during any phase of the menstrual cycle to preserve the fertility of breast cancer patients.
    Journal of Assisted Reproduction and Genetics 12/2014;
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    ABSTRACT: Purpose To evaluate the transition from a proven slow-cooling cryopreservation method to a commercial large-volume vitrification system for human blastocysts. Methods Retrospective analysis of de-identified laboratory and clinical data from January 2012 to present date for all frozen embryo replacement (FET) cycles was undertaken. Cryopreservation of trophectoderm-biopsied or non-biopsied blastocysts utilized during this time period was logged as either slow-cooling, small-volume vitrification, or large-volume vitrification. Blastocyst survival post-warm or post-thaw, clinical pregnancy following FET, and implantation rates were identified for each respective cryopreservation method. Results Embryo survival was highest for large-volume vitrification compared to micro-volume vitrification and slow-cooling; 187/193 (96.9 %), 27/32 (84.4 %), and 244/272 (89.7 %), respectively. Survival of biopsied and non-biopsied blastocysts vitrified using the large-volume system was 105/109 (96.3 %) and 82/84 (97.6 %), respectively. Survival for micro-volume biopsied and non-biopsied blastocysts was 16/30 (83.3 %) and 2/2 (100.0 %) respectively. Slow-cooling post-thaw embryo survival was 272/244 (89.7 %). Clinical pregnancy and implantation rates outcomes for non-biopsied embryos were similar between large-volume and slow-cooling cryopreservation methods, 18/39 (46.2 %) clinical pregnancy and 24/82 (29.3 %) implantation/embryo, and 52/116 (44.8 %) clinical pregnancy and 67/244 (27.5 %) implantation/embryo, respectively. Comparing outcomes for biopsied embryos, clinical pregnancy and implantation rates were 39/67 (58.2 %) clinical pregnancy and 50/105 (47.6 %) implantation/embryo and 4/16 (25 %) clinical pregnancy and 6/25 (24.0 %) implantation/embryo, respectively. Conclusions The LifeGlobal large-volume vitrification system proved to be very reliable, simple to learn and implement in the laboratory. Clinically large-volume vitrification was as, or more effective compared to slow-cooling cryopreservation in terms of recovery of viable embryos in this laboratory.
    Journal of Assisted Reproduction and Genetics 12/2014;
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    ABSTRACT: Purpose The aim of this retrospective study was to compare the competence of oocytes obtained from preovulatory and antral follicles. Methods Mature oocytes from preovulatory follicles were retrieved from women selected for standard IVF treatment (Group A). Mature oocytes from antral follicles were recovered from women undergoing hCG-primed in vitro maturation (IVM) treatment (Group B). Patients groups were matched for age, BMI, FSH, AMH and antral follicle count (AFC) values. In vivo matured oocytes from both groups were microinjected and resulting embryos were culture and selected on day 3 for embryo transfer. Results Oocyte pick-ups (OPU) were 315 and 204 in Groups A and B, respectively. Fertilization rates were comparable (72.8 and 75.9 %, respectively; P = 0.137). In Group A, in which the average number of embryos transferred was higher, clinical pregnancy rates per OPU (37.5 %) and embryo transfer (38.4 %) were superior in comparison to Group B (27.0 %, P = 0.013; 29.4 %, P = 0.041; respectively). On the other hand, implantation rates (Group A, 23.7 %; Group B, 20.8 %) and proportions of babies born per transferred embryo (Group A, 19.5 %; Group B, 16.9 %) were similar (P = 0.528 and 0.332, respectively). Conclusions Overall, this suggests that oocyte competence is already achieved at the antral stage of follicle development.
    Journal of Assisted Reproduction and Genetics 12/2014;
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    ABSTRACT: IntroductionRing chromosome abnormalities are rare abnormalities potentially involving any chromosome and the vast majority of previously reported cases were seen in patients with various congenital malformations and mental retardation. On the other hand, only few subjects carrying ring chromosomes and with normal phenotype have been described [1]. Until now only 30 cases of ring autosome 9 (r(9)) have been reported in the literature [2]. The prevalence of this pathology is 1 in 50,000 foetuses and in the majority of cases serious malformations were described [3].The most typical ring formation occurs after terminal deletion and fusion of the p arm and the q arm and under this process genetic material can be lost [4]. The most common breakpoints are found between 9p24-p22 and 9q33-q34, but end-to-end fusion of palindromic telomere sequences have also been reported [5].The Danish cytogenetic register, which contains data from all cytogenetic testing in Denmark from 1960 onwards (altoget ...
    Journal of Assisted Reproduction and Genetics 12/2014;
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    ABSTRACT: To develop a method for delayed assessment of sperm motility, after shipment of semen to a remote laboratory. Sperm in semen were labeled with the MitoTracker® Red CM-H2XRos reagent, and fixed with 3.7 % formaldehyde by the laboratory technicians at the origin of the semen. This treatment reflected well sperm mitochondrial activity, and the MitoTracker® signal was related to sperm motility and velocity for 2-3 days following ejaculation.
    Journal of Assisted Reproduction and Genetics 11/2014;
  • Journal of Assisted Reproduction and Genetics 11/2014;
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    ABSTRACT: This study aims to explore possible associations between polymorphisms of common SNP rs1136410 and rS1805405 in PARP1 gene and male infertility with spermatogenesis impairment.
    Journal of Assisted Reproduction and Genetics 08/2014;
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    ABSTRACT: To evaluate the dual effects of superovulation on the endocrine activity and susceptibility to carcinogenesis of uterine and mammary glands of female offspring in mice METHOD: The mice were superovaluted. The relative uterine weight, ERα protein expression, and endocrine activity of female offspring (F1 generation and F2 generation) were measured. Furthermore, proliferative lesion of uterine and mammary glands of female offspring (F1 generation and F2 generation) was assessed by histopathologic examinations.
    Journal of Assisted Reproduction and Genetics 08/2014;