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Journal of Assisted Reproduction and Genetics

Denice Belandres, Mousa Shamonki, Nabil Arrach
In recent years, a growing body of literature has emerged investigating the clinical utility of spent embryo media (SEM) for preimplantation genetic testing for aneuploidy (PGT-A) (Hammond et al. in Fertil Steril. 107(1):220-8, 2017; Xu et al. in Proc Natl Acad Sci USA. 113(42):11907-12, 2016; Shamonki et al. in Fertil Steril. 106(6):1312-8, 2016; Feichtinger et al. in Reprod BioMed Online. 34(6):583-9, 2017; Vera-Rodriguez et al. in Hum Reprod. 33(4):745-56, 2018; Kuznyetsov et al. in PLoS One. 13(5):e0197262, 2018; Ho et al...
March 21, 2019: Journal of Assisted Reproduction and Genetics
Xinghua Huang, Yun Liu, Xiurong Yu, Qiuxiang Huang, Chunli Lin, Jian Zeng, Fenghua Lan, Zhihong Wang
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 regulator (RPGR) gene was identified in a pedigree affected by XLRP. Then, PGD was carried out for the couple, of which the wife was an XLRP carrier...
March 19, 2019: Journal of Assisted Reproduction and Genetics
Rodrigo G Barros, Paula F Lima, Ana Caroline S Soares, Lorena Sanches, Christopher A Price, José Buratini
PURPOSE: We first assessed regulation of FGF2 expression in cumulus cells by FSH and oocyte-secreted factors during in vitro maturation (IVM). Then, we tested the hypothesis that FGF2 regulates meiotic progression, cumulus expansion, and apoptosis in cumulus-oocyte complexes (COC) undergoing IVM. METHODS: In vitro maturation of bovine COC was utilized as a model to assess regulation of FGF2 expression by FSH and oocyte-secreted factors (via microsurgical removal of the oocyte), as well as effects of graded doses of FGF2 on meiotic progression, degree of cumulus expansion, dissociation of cumulus cells, and cumulus cells apoptosis...
March 18, 2019: Journal of Assisted Reproduction and Genetics
M Vidyadhari, M Sujatha, P Krupa, Pratibha Nallari, A Venkateshwari
PURPOSE: The study estimates the association of VEGF gene polymorphism (-1154 G/A, -2549 I/D, -2578 C/A, and +936 C/T) in recurrent pregnancy loss from South Indian population. METHODS: A total of 100 couples with the history of recurrent pregnancy loss and 100 couples with medically terminated pregnancies were considered. Fetal tissues with < 20 weeks of gestation including peripheral blood from case and control couples were collected. VEGF gene polymorphisms were determined by allele-specific polymerase chain reaction...
March 15, 2019: Journal of Assisted Reproduction and Genetics
Jane Alrø Bøtkjær, Susanne Elisabeth Pors, Tonny Studsgaard Petersen, Stine Gry Kristensen, Janni Vikkelsø Jeppesen, Claus Oxvig, Claus Yding Andersen
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. METHODS: Gene expression profiling was performed with microarray gene analysis. The analysis was assessed from ovarian follicles and granulosa cells (GCs) obtained from isolated stage-specific human ovarian follicles, including preantral follicles, small antral follicles, and preovulatory follicles...
March 15, 2019: Journal of Assisted Reproduction and Genetics
David F Albertini
No abstract text is available yet for this article.
March 15, 2019: Journal of Assisted Reproduction and Genetics
Xiuli Gu, Honggang Li, Xi Chen, Xue Zhang, Fen Mei, Mingzhu Jia, Chengliang Xiong
PURPOSE: Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. A previous Chinese genome-wide single-nucleotide polymorphism (SNP) association studies have identified four SNPs (rs12097821 in PRMT6 gene, rs2477686 in PEX10 gene, rs6080550 in SIRPA-SIRPG, and rs10842262 in SOX5 gene) as being significantly associated with risk factors for nonobstructive azoospermia (NOA). However, the results were not fully repeated in later studies, which calls for further investigations...
March 13, 2019: Journal of Assisted Reproduction and Genetics
Jose Buratini, Pierre Comizzoli
No abstract text is available yet for this article.
March 12, 2019: Journal of Assisted Reproduction and Genetics
Melanie R Freeman, M Shaun Hinds, Kay G Howard, Julie M Howard, George A Hill
PURPOSE: To provide clinicians with data showing the benefits of transferring a single blastocyst in frozen embryo transfer (FET) cycles so that they may counsel their patients accordingly. METHODS: This is a closed cohort study of 678 FET cycles occurring between January 2011 and December 2017 in a private IVF laboratory and associated physicians' practice. Patients included in the analysis were less than 38 years of age at oocyte collection, had at least two vitrified blastocysts, and were undergoing their first autologous FET cycle...
March 11, 2019: Journal of Assisted Reproduction and Genetics
Lucie Pierron, Alexandra Irrmann, Aliénor de Chalus, Adrien Bloch, Solveig Heide, Eli Rogers, Nathalie Lédée, Laura Prat-Ellenberg, Aurélie Coussement, Jean-Michel Dupont, Nino Guy Cassuto, Jean-Pierre Siffroi, Alexandre Rouen
BACKGROUND: The prevalence of chromosomal translocations is 1/500 in the general population. While in the vast majority of cases, carriers have a normal phenotype; they can present with difficulty conceiving due to the presence of a proportion of unbalanced gametes as a consequence of abnormal chromosomal segregation during meiosis. Since complex translocations involve three or more chromosomes, meiotic segregation leads to a greater number of possible combinations which effectively complicate both their study and therapeutic care...
March 8, 2019: Journal of Assisted Reproduction and Genetics
Kevin Marron, Conor Harrity
PURPOSE: The uterine immunophenotype is relatively poorly understood, with most studies reporting proportions/percentages. A novel technique to calculate local endometrial lymphocyte concentrations is described, and used to compare results between aetiological subgroups such as repeated implantation failure (RIF) and recurrent pregnancy loss (RPL) with male-factor controls. METHODS: 455 patients had an endometrial biopsy performed. Background history on initial presentation was used to subdivide the population into RIF (n = 149), RPL (n = 121), primary (n = 76) and secondary infertility (n = 80)...
March 7, 2019: Journal of Assisted Reproduction and Genetics
R Díaz-Peña, M J de Los Santos, Alejandro Lucia, P Castro-Santos
Pregnancy is a unique immunological situation in which a fetus-bearing paternal histocompatibility antigens can survive in a maternal environment without apparent rejection. To face this challenge, cells of the uterine immune system show characteristic changes in absolute number and composition during pregnancy. Particularly relevant to this process are uterine natural killer (uNK) cells and their cell surface receptors, killer immunoglobulin-like receptors (KIRs). The main purpose of this review is to outline the current body of knowledge on the involvement of KIRs in the complications of pregnancy...
March 7, 2019: Journal of Assisted Reproduction and Genetics
Zahava P Michaelson, Sai T Bondalapati, Selma Amrane, Robert W Prosser, Daniel M Hill, Pallavi Gaur, Matt Recio, David E Travassos, Mikaela D Wolfkamp, Sasha Sadowy, Colin Thomas, Eric J Forman, Zev Williams
PURPOSE: To study the relationship between liquid nitrogen loss and temperature in cryostorage dewars and develop an early-warning alarm for impending tank failure. METHODS: Cryostorage dewars were placed on custom-engineered scales, and weight and temperature data were continuously monitored in the setting of slow, medium, and fast rate-loss of LN2 to simulate three scenarios of tank failure. RESULTS: LN2 Tank weights and temperatures were continuously monitored and recorded, with a calculated alarm trigger set at 10% weight loss and temperature of - 185 °C...
March 5, 2019: Journal of Assisted Reproduction and Genetics
Xiaoyu Yang, Li Shu, Lingbo Cai, Xueping Sun, Yugui Cui, Jiayin Liu
PURPOSE: To investigate a novel mutation in the WEE2 gene in a female patient with primary infertility and fertilization failure. METHODS: Sanger sequencing was used to detect mutations in WEE2. The pathogenicity of the identified variant and its possible effects on the WEE2 protein were evaluated with in silico tools and molecular modeling. We used the calcium ionophore A23187 as a chemical activator of oocytes after intracytoplasmic sperm injection (ICSI). RESULTS: We identified a consanguineous family with a novel homozygous missense mutation in WEE2 (c...
March 2, 2019: Journal of Assisted Reproduction and Genetics
Mostafa Akbariqomi, Reza Heidari, Soraya Saleh Gargari, Mir Davood Omrani, Garshasb Rigi, Nafiseh Sadat Sanikhani, Hamid Kooshki, Fatemeh Mahmoudian, Mohammad Ali Mazlomi, Gholamreza Tavoosidana
PURPOSE: Methylated cell-free fetal DNA (cffDNA) in maternal plasma can potentially be used as a biomarker for accurate noninvasive prenatal testing (NIPT) of fetal disorders. Recovery and purification of cffDNA are key steps for downstream applications. In this study, we aimed to developed and evaluated different aspects of an optimized method and compared its efficiency with common methods used for extraction of methylated cffDNA. METHODS: Single factor experiments, Plackett-Burman (PB) design, and response surface methodology (RSM) were conducted for conventional Triton/Heat/Phenol (cTHP) method optimization...
February 28, 2019: Journal of Assisted Reproduction and Genetics
Eva Tvrdá, Francisca Arroyo, Michal Ďuračka, Carmen López-Fernández, Jaime Gosálvez
PURPOSE: To evaluate the effect of sperm concentration adjustment in human ejaculates on the sperm DNA quality and longevity. METHODS: Semen samples were obtained from 30 donors with a normal spermiogram. Following centrifugation, the sperm pellet was resuspended in PBS, and the sperm concentration adjusted to 200, 100, 50, 25, 12, and 6 × 106 /mL. Each set of samples was incubated at 37 °C for 24 h, and the sperm DNA damage was assessed using the chromatin-dispersion test following 0 h, 2 h, 6 h, and 24 h of incubation...
February 25, 2019: Journal of Assisted Reproduction and Genetics
Kemal Ozgur, Hasan Bulut, Murat Berkkanoglu, Levent Donmez, Kevin Coetzee
PURPOSE: To investigate the cumulative live birth (cLB) rate of one complete freeze-all-IVF cycle in a general infertile population and to investigate patient and treatment variables that predict blastocyst development and live birth (LB). METHOD: In a retrospective observational study, the data of all IVF cycles performed between 1 February 2015 and 31 January 2016 at a single IVF centre was investigated. In the study, patient-couples were followed up for 18 months following oocyte retrieval...
February 21, 2019: Journal of Assisted Reproduction and Genetics
Gon Shoham, Rachel Levy-Toledano, Milton Leong, Ariel Weissman, Yuval Yaron, Zeev Shoham
PURPOSE: This research sought to understand IVF-physicians' knowledge of, experience with, and attitudes toward fertility preservation for cancer patients. METHODS: A 35-question, self-report survey request was emailed to IVF providers who were registered on the network (3826 clinics). Physicians submitted responses on the website. Survey results were reported as a proportion of the responding clinics. RESULTS: Survey responses were completed by 321 (8...
February 20, 2019: Journal of Assisted Reproduction and Genetics
Ping Yuan, Ruiqi Li, Di Li, Lingyan Zheng, Songbang Ou, Haijing Zhao, Qingxue Zhang, Wenjun Wang
PURPOSE: Empty follicle syndrome (EFS) is a complex reproductive disorder characterized by the repeated failure to aspirate oocytes from mature ovarian follicles during in vitro fertilization (IVF). In addition to some cases caused by iatrogenic problems and known genetic factors, there are still many unexplained aspects of EFS. Here, we aimed to assess the clinical and genetic characteristics of two EFS patients. METHODS: We have characterized two primary infertility patients with EFS in a nonconsanguineous family from China...
February 18, 2019: Journal of Assisted Reproduction and Genetics
David F Albertini
No abstract text is available yet for this article.
February 18, 2019: Journal of Assisted Reproduction and Genetics
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