11,855 results match your criteria Preimplantation Genetic Diagnosis


Does Maternal Age at Retrieval Influence the Implantation Potential of Euploid Blastocysts?

Am J Obstet Gynecol 2018 Dec 3. Epub 2018 Dec 3.

The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medicine, New York, NY 10021.

Background: Age-related decline in reproductive potential is mainly due to the increased incidence of aneuploidy. Furthermore, two recent studies have shown that euploid embryos of older women may have a lower implantation potential compared to those of younger women, suggesting that aging might compromise embryos beyond their ploidy status. However, the inherent limitations of these studies preclude solid conclusions. Read More

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December 2018
3 Reads

Recurrent Implantation Failure-update overview on etiology, diagnosis, treatment and future directions.

Reprod Biol Endocrinol 2018 Dec 5;16(1):121. Epub 2018 Dec 5.

Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel-Hashomer, 52621, Ramat Gan, Israel.

Recurrent implantation failure (RIF) refers to cases in which women have had three failed in vitro fertilization (IVF) attempts with good quality embryos. The definition should also take advanced maternal age and embryo stage into consideration. The failure of embryo implantation can be a consequence of uterine, male, or embryo factors, or the specific type of IVF protocol. Read More

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December 2018

Does blastomere removal alter the expression level of miR-Let7a and its target genes following mouse embryo biopsy?

J Cell Biochem 2018 Dec 2. Epub 2018 Dec 2.

Cellular and Molecular Biology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Embryo manipulations may cause the misexpression of various genes, most of which play critical roles in the regulation of implantation. This study aimed to evaluate the effects of embryo biopsy on the expression of miR-Let-7a and its gene targets including ErbB4, Tgf-α, Itg-αv, Itg β3 on the implantation of mouse embryo. Embryos were produced by in vitro fertilization followed by blastomere biopsy at the eight-cell stage. Read More

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December 2018

Aneuploidy Screening using Next Generation Sequencing.

Methods Mol Biol 2019 ;1885:85-102

IGENOMIX USA, Torrance, CA, USA.

Chromosomal aneuploidy is recognized to be a significant contributing factor in implantation failure and spontaneous miscarriage Hellani et al. (Reprod Biomed Online 17:841-847, 2008), Vanneste et al. (Nat Med 15:577-583, 2009) and is likely to be responsible for the majority of IVF failure [Baltaci et al. Read More

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January 2019

Detection of Aneuploidy and Unbalanced Rearrangements Using Comparative Genomic Hybridization Microarrays.

Methods Mol Biol 2019 ;1885:73-84

Igenomix, Valencia, Spain.

Comparative genomic hybridization arrays (aCGH) allow the analysis of all 24 chromosome aneuploidies and chromosome rearrangements in the same single (or few) biopsied cells in a short period (less than 24 h). When applied to preimplantation genetic diagnosis (PGD) and screening (PGS) this technique can improve the selection of embryos for transfer and therefore also the reproductive outcomes. In this chapter, we describe the CGH microarray protocol for PGS and PGD used in our laboratory. Read More

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January 2019

Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders.

Methods Mol Biol 2019 ;1885:61-71

Thomas Jefferson University, Basking Ridge, NJ, USA.

Preimplantation genetic testing has evolved tremendously from the early days of FISH detection for a select few chromosome aneuploidies to now combining the detection of all whole chromosome imbalances in conjunction with single gene disorder testing for inherited diseases. As universal carrier screening and exome or genome studies become more commonplace, more and more families are becoming interested in reducing the risk of having a child with a severe disease using preimplantation genetic testing. We describe here the use of quantitative PCR (qPCR) for the custom construction of single gene disorder testing plans for families, the validation of the probes designed, and the protocol for diagnosing an embryo biopsy. Read More

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January 2019

Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction.

Methods Mol Biol 2019 ;1885:23-43

Florida International University, Miami, FL, USA.

Preimplantation genetic diagnosis (PGD) can be considered the earliest form of prenatal testing. It was first used in humans over 26 years ago. At its inception, PGD could only be performed for a limited number of genetic disorders. Read More

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January 2019

Blastocyst culture and transfer in clinically assisted reproduction: a committee opinion.

Authors:

Fertil Steril 2018 Dec;110(7):1246-1252

American Society for Reproductive Medicine, Birmingham, Alabama.

The purposes of this Practice Committee Opinion, which replaces the 2013 ASRM Practice Committee Opinion of the same name (Fertil Steril 2013; 99:667-72), are to review the literature regarding the clinical application of blastocyst transfer and identify the potential risks and laboratory issues related to the use of this technology. This document does not apply to patients undergoing blastocyst culture and transfer for preimplantation genetic testing. Read More

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December 2018

Global, Survival, and Apoptotic Transcriptome during Mouse and Human Early Embryonic Development.

Biomed Res Int 2018 1;2018:5895628. Epub 2018 Nov 1.

CHU Montpellier, Institut de Médecine Régénératrice et de Biothérapie, Hôpital Saint-Eloi, Montpellier 34295, France.

Survival and cell death signals are crucial for mammalian embryo preimplantation development. However, the knowledge on the molecular mechanisms underlying their regulation is still limited. Mouse studies are widely used to understand preimplantation embryo development, but extrapolation of these results to humans is questionable. Read More

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November 2018
1 Read

Mouse ICM Organoids Reveal Three-Dimensional Cell Fate Clustering.

Biophys J 2018 Nov 16. Epub 2018 Nov 16.

Physikalische Biologie, Fachbereich Biowissenschaften, Buchmann Institute for Molecular Life Sciences, Goethe-Universität Frankfurt am Main, Frankfurt am Main, Germany. Electronic address:

During mammalian preimplantation, cells of the inner cell mass (ICM) adopt either an embryonic or an extraembryonic fate. This process is tightly regulated in space and time and has been studied previously in mouse embryos and embryonic stem cell models. Current research suggests that cell fates are arranged in a salt-and-pepper pattern of random cell positioning or a spatially alternating pattern. Read More

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November 2018

A randomised controlled trial of a personalised lifestyle coaching application in modifying periconceptional behaviours in women suffering from reproductive failures (iPLAN trial).

BMC Womens Health 2018 Dec 4;18(1):196. Epub 2018 Dec 4.

Zealand University Hospital, University of Copenhagen, Copenhagen, Denmark.

Background: Lifestyle, in particular obesity and smoking has significant impacts on fertility and an important focus for the treatment of reproductive failures is the optimisation of periconceptional lifestyle behaviours. The preimplantation intrauterine environment within the uterus is also key for embryo development and early programming. Although the benefits a healthy periconceptional lifestyle are well described, there remains a paucity of data demonstrating the efficacy of interventions designed to optimise preconceptional lifestyle behaviours and choices. Read More

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December 2018

[Analysis of chromosomes of embryos derived from translocation carriers during preimplantation genetic diagnosis cycles].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):875-878

Department of Obstetrics and Gynecology, Center of Reproductive Medicine, Fuzong Clinical College of Fujian Medical University, Dongfang Hospital Affiliated to Xiamen University, Fuzhou, Fujian 350025, China.

Objective: To explore the effect of chromosomal translocations on the composition of embryonic chromosomes and its mechanism.

Methods: For 52 couples with one partner carrying a chromosomal translocation, results of next generation sequencing of all embryos derived from 61 cycles were divided into different groups based on the type of translocations, gender of the carrier, and maternal age. Effect of parental chromosomal translocations on the composition of embryonic chromosomes of each group was analyzed. Read More

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December 2018
2 Reads

To test or not to test? A framework for counselling patients on preimplantation genetic testing for aneuploidy (PGT-A).

Hum Reprod 2018 Nov 30. Epub 2018 Nov 30.

Boston IVF, Waltham, MA, USA.

Study Question: What is the treatment path and cumulative live birth (CLB) rate from a single oocyte retrieval of patients who intend to pursue PGT-A at the start of an IVF cycle compared to matched controls?

Summary Answer: The choice of PGT-A at the start of the first IVF cycle decreases the CLB per oocyte retrieval for patients <38 years of age, however patients ≥38 years of age benefit significantly per embryo transfer (ET) when live birth (LB) is evaluated.

What Is Known Already: PGT-A has been shown to reduce the practice of transferring multiple embryos and to confer a higher live birth rate per transfer.

Study Design, Size, Duration: This is a retrospective cohort study from December 2014 to September 2016, involving 600 patients: those intending PGT-A for their first IVF cycle (N = 300) and their matched controls. Read More

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November 2018
1 Read

Morphological Evaluation of the Tissue Reaction to Subcutaneous Implantation of Decellularized Matrices.

Bull Exp Biol Med 2018 Dec 28;166(2):287-292. Epub 2018 Nov 28.

Kuban State Medical University, Krasnodar, Russia.

Based on the data of morphological analysis, we performed histological evaluation of rat tissue reaction to subcutaneous implantation of decellularized matrices of intrathoracic organs and tissues. Cell composition of the inflammatory infiltrate was analyzed, and the dynamics of macrophage and T and B lymphocyte content was assessed on days 7 and 14 of the experiment. It was found that the reaction to implantation depended not only on the quality of decellularization and efficiency of removal of antigen molecules, but also on the original histological structure and quality of preimplantation processing of the transplant. Read More

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December 2018
2 Reads

Differential expression profiles of long non‑coding RNAs during the mouse pronuclear stage under normal gravity and simulated microgravity.

Mol Med Rep 2018 Nov 20. Epub 2018 Nov 20.

College of Animal Science, National Engineering Research Center for Breeding Swine Industry, Guangdong Provincial Key Lab of Agro‑Animal Genomics and Molecular Breeding, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong 510642, P.R. China.

Pronuclear migration, which is the initial stage of embryonic development and the marker of zygote formation, is a crucial process during mammalian preimplantation embryonic development. Recent studies have revealed that long non‑coding RNAs (lncRNAs) serve an important role in early embryonic development. However, the functional regulation of lncRNAs in this process has yet to be elucidated, largely due to the difficulty of assessing gene expression alterations during the very short time in which pronuclear migration occurs. Read More

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November 2018
1.484 Impact Factor

Haemoglobin expression in invivo murine preimplantation embryos suggests a role in oxygen-regulated gene expression.

Reprod Fertil Dev 2018 Nov 28. Epub 2018 Nov 28.

Haemoglobin expression is not restricted to erythroid cells. We investigated the gene expression of the haemoglobin subunits haemoglobin, alpha adult chain 1 (Hba-a1) and haemoglobin, beta (Hbb), 2,3-bisphosphoglycerate mutase (Bpgm) and the oxygen-regulated genes BCL2/adenovirus E1B interacting protein 3 (Bnip3), solute carrier family 2 (facilitated glucose transporter), member 1 (Slc2a1) and N-myc downstream regulated gene 1 (Ndrg1) in the murine preimplantation embryo, comparing in vivo to in vitro gene expression. Relatively high levels of Hba-a1 and Hbb were expressed in vivo from the 2-cell to blastocyst stage; in contrast, little or no expression occurred in vitro. Read More

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November 2018

Embryo quality, and not chromosome nondiploidy, affects mitochondrial DNA content in mouse blastocysts.

J Cell Physiol 2018 Nov 27. Epub 2018 Nov 27.

Department of Obstetrics and Gynecology, Center for Reproductive Medicine, Peking University Third Hospital, Beijing, China.

It has been shown recently that there is premature mitochondria biosynthesis in blastocysts from older women whose egg or embryo quality is poor and that aneuploid blastocysts also have a high number of mitochondrial DNA (mtDNA) copies. Whether nondiploidy/aneuploidy or reduced egg or embryo quality causes premature mitochondrial biosynthesis is not known. This study constructed haploid, diploid, triploid, and tetraploid blastocysts by parthenogenetic activation, intracytoplasmic sperm injection with one or two sperm heads, blastomere electrofusion, respectively, and generated reduced cytoplasm quality embryos from diabetic mouse and in vitro fertilization of aged oocytes, and examined whether nondiploidy or reduced cytoplasm quality causes premature mitochondrial biosynthesis. Read More

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November 2018
10 Reads
3.839 Impact Factor

Autologous mitochondrial transfer as a complementary technique to intracytoplasmic sperm injection to improve embryo quality in patients undergoing in vitro fertilization-a randomized pilot study.

Fertil Steril 2018 Nov 24. Epub 2018 Nov 24.

IVI-RMA Valencia, Valencia, Spain; IVI Rome, Rome, Italy.

Objective: To study if autologous mitochondrial transfer (AUGMENT) improves outcome in patients with previously failed in vitro fertilization (IVF).

Design: Randomized, controlled, triple-blind, experimental study.

Setting: Private infertility center, Valencian Institute of Infertility (IVI-RMA), Valencia, Spain. Read More

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November 2018
1 Read

How time to healthy singleton delivery could affect decision-making during infertility treatment: a Delphi consensus.

Reprod Biomed Online 2018 Nov 7. Epub 2018 Nov 7.

Faculty of Health, Aarhus University, Aarhus, Denmark; The Fertility Clinic, Skive Regional Hospital, and Faculty of Health, Aarhus University, Aarhus, Denmark.

Research Question: How might time to healthy singleton delivery affect decision-making during infertility treatment?

Design: This was a Delphi consensus investigating expert opinion that comprised three steps. In Step 1, 12 experts developed statements. In Step 2, 27 experts (including 12 from Step 1) voted (online survey) on their agreement/disagreement with each statement (providing reasons). Read More

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November 2018
3 Reads

Karyomapping for simultaneous genomic evaluation and aneuploidy screening of preimplantation bovine embryos: The first live-born calves.

Theriogenology 2018 Nov 16;125:249-258. Epub 2018 Nov 16.

School of Biosciences, University of Kent, Canterbury, Kent, CT2 7NH, UK. Electronic address:

In cattle breeding, the development of genomic selection strategies based on single nucleotide polymorphism (SNP) interrogation has led to improved rates of genetic gain. Additionally, the application of genomic selection to in-vitro produced (IVP) embryos is expected to bring further benefits thanks to the ability to test a greater number of individuals before establishing a pregnancy and to ensure only carriers of desirable traits are born. However, aneuploidy, a leading cause of developmental arrest, is known to be common in IVP embryos. Read More

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November 2018

Is more better? A higher oocyte yield is independently associated with more day-3 euploid embryos after ICSI.

Hum Reprod 2018 Nov 24. Epub 2018 Nov 24.

School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.

Study Question: Is the number of oocytes retrieved after ovarian stimulation for ICSI independently associated with the number of day-3 euploid embryos (EE)?

Summary Answer: A larger oocyte yield is independently associated with more day-3 EE, although the expected benefit decreases significantly with advancing age.

What Is Known Already: Although traditionally ovarian stimulation aims at collecting more than one oocyte in order to increase the chance of pregnancy, there is evidence suggesting that excessive ovarian response leads to lower live birth rates. Whether a larger oocyte yield after ovarian stimulation is associated with the genetic composition of the resulting embryos and therefore with their reproductive potential is still largely unknown. Read More

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November 2018

Valosin-containing protein is associated with maintenance of meiotic arrest in mouse oocytes.

Biol Reprod 2018 Nov 21. Epub 2018 Nov 21.

College of Animal Science, Fujian Agriculture and Forestry University, Fuzhou 350002, P. R. China.

Valosin-containing protein (VCP) is a member of the highly conserved AAA (ATPase associated with a variety of cellular activities) superfamily. A previous study has shown that targeted deletion of Vcp in mice results in early embryonic lethality. The aim of the present study was to analyze the expression and localization of VCP and its function in meiotic arrest of mouse oocytes. Read More

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November 2018
2 Reads

Refining the ethics of preimplantation genetic diagnosis: A plea for contextualized proportionality.

Bioethics 2018 Nov 26. Epub 2018 Nov 26.

Health, Ethics and Society, Maastricht University, Maastricht, Netherlands; GROW School for Oncology & Developmental Biology; CAPHRI School for Public Health & Primary Care, Maastricht University, Maastricht, Netherlands.

Many European countries uphold a 'high risk of a serious condition' requirement for limiting the scope of preimplantation genetic diagnosis (PGD). This 'front door' rule should be loosened to account for forms of PGD with a divergent proportionality. This applies to both 'added PGD' (aPGD), as an add-on to in vitro fertilization (IVF), and 'combination PGD' (cPGD), for a secondary disorder in addition to the one for which the applicants have an accepted PGD indication. Read More

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November 2018
1 Read

Cochlear Implant in Prelingually Deaf Children: Our Experience.

Indian J Otolaryngol Head Neck Surg 2018 Dec 21;70(4):544-548. Epub 2018 Jun 21.

Department of Ent and Head and Neck Surgery, L N Medical College and J K Hospital, Bhopal, MP India.

Retrospective study of the prelingual cochlear implantation programme under government scheme done at medical college hospital in central India. Forty-two prelingually deaf children screened and sent for cochlear implantation at our centre From March 2015 to Feb 2018 were reviewed with respect to their age, sex, preimplantation hearing aid use, surgical technique for cochlear implantation, type of FDA (USA) approved cochlear implant, post operative speech therapy and its outcome with respect to categories of auditory perception and speech intelligibility scoring were compared for children younger than 4 years and older than 4 years. For outcome measurement non parametric statistical method was used for any significance between the two groups. Read More

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December 2018
5 Reads

Maternal knockout causes loss of H3K27me3 imprinting and random X inactivation in the extraembryonic cells.

Genes Dev 2018 12 21;32(23-24):1525-1536. Epub 2018 Nov 21.

Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

Genomic imprinting is essential for mammalian development. Recent studies have revealed that maternal histone H3 Lys27 trimethylation (H3K27me3) can mediate DNA methylation-independent genomic imprinting. However, the regulatory mechanisms and functions of this new imprinting mechanism are largely unknown. Read More

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December 2018

Intracellular localisation of platelet-activating factor during mammalian embryo development invitro: a comparison of cattle, mouse and human.

Reprod Fertil Dev 2018 Nov 21. Epub 2018 Nov 21.

Platelet-activating factor (PAF) is a well-known marker for embryo quality and viability. For the first time, we describe an intracellular localisation of PAF in oocytes and embryos of cattle, mice and humans. We showed that PAF is represented in the nucleus, a signal that was lost upon nuclear envelope breakdown. Read More

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November 2018

Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families.

Gene 2018 Nov 17;686:261-269. Epub 2018 Nov 17.

Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China. Electronic address:

Background: Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder caused by GALNS gene mutation. The aim of our study is to detect pathogenic variants for patients suspected of MPS IVA and set the base for subsequent prenatal diagnosis and preimplantation genetic diagnosis.

Methods: In our study, 9 MPS IVA patients from south China families were investigated. Read More

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November 2018
5 Reads

Origins of Intraindividual Genetic Variation in Human Fetuses.

Reprod Sci 2018 Nov 19:1933719118808919. Epub 2018 Nov 19.

3 Department of Embryology, Reproductive Biomedicine Research Centre, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.

Background:: Intraindividual copy number variation (CNV) origin is largely unknown. They might be due to aging and/or common genome instability at the preimplantation stage while contribution of preimplantation in human intraindividual CNVs occurrence is unknown. To address this question, we investigated mosaicism and its origin in the fetuses of natural conception. Read More

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November 2018

Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy.

Genet Med 2018 Nov 19. Epub 2018 Nov 19.

Translational Genomics Lab, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.

Purpose: To develop an economical, user-friendly, and accurate all-in-one next-generation sequencing (NGS)-based workflow for single-cell gene variant detection combined with comprehensive chromosome screening in a 24-hour workflow protocol.

Methods: We subjected single lymphoblast cells or blastomere/blastocyst biopsies from four different families to low coverage (0.3×-1. Read More

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November 2018

Influence of QRS duration and axis on response to cardiac resynchronization therapy in chronic heart failure with reduced left ventricular ejection fraction: A single center study including patients with left bundle branch block.

Cardiol J 2018 Nov 16. Epub 2018 Nov 16.

Department of Cardiology and Internal Medicine, Nicolaus Copernicus University, Collegium Medicum in Bydgoszcz, Poland.

Background: The aim of the study was to evaluate QRS duration and axis as predictors of response to cardiac resynchronization therapy (CRT) in order to reduce the proportion of non-responders.

Methods: Retrospective single-center study including 42 CRT recipients, with left bundle branch block (LBBB), left ventricular ejection fraction (LVEF) < 40%, in New York Heart Association (NYHA) class ≥ II. Response to CRT was declared as NYHA class improvement ≥ 1 (symptomatic) and LVEF improvement by ≥ 10% (echocardiographic) > 6 months post implantation. Read More

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November 2018

Pterostilbene alleviates hydrogen peroxide-induced oxidative stress via nuclear factor erythroid 2 like 2 pathway in mouse preimplantation embryos.

J Reprod Dev 2018 Nov 15. Epub 2018 Nov 15.

Department of Animal Science, Agricultural College, Yanbian University, Jilin Province 133002, China.

Pterostilbene (PTS) in blueberries is a phytoalexin with antioxidant properties. PTS exerts strong cytoprotective effects on various cells via Nuclear Factor Erythroid 2 like 2 (NFE2L2) pathway. We evaluated the antioxidant PTS treatment in mouse preimplantation embryos. Read More

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November 2018
6 Reads

Identification of differentially expressed microRNAs in outgrowth embryos compared with blastocysts and non-outgrowth embryos in mice.

Reprod Fertil Dev 2018 Nov 15. Epub 2018 Nov 15.

Recurrent implantation failure (RIF) is one of the main causes for the repeated failure of IVF, and the major reason for RIF is thought to be a miscommunication between the embryo and uterus. However, the exact mechanism underlying embryo-uterus cross-talk is not fully understood. The aim of the present study was to identify differentially expressed microRNAs (miRNAs) among blastocysts, non-outgrowth and outgrowth embryos in mice using microarray analysis. Read More

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November 2018
2 Reads

What are patients doing with their mosaic embryos? Decision making after genetic counseling.

Fertil Steril 2018 Nov 10. Epub 2018 Nov 10.

New York University Langone Fertility Center, New York, New York.

Objective: To assess patient decisions regarding mosaic embryos and their impact on clinical outcomes.

Design: Review of patients who had genetic counseling regarding mosaic embryos.

Setting: Academic department. Read More

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November 2018
2 Reads

Manipulation of Biological Cells Using a Robot-Aided Optical Tweezers System.

Micromachines (Basel) 2018 May 17;9(5). Epub 2018 May 17.

College of Automation Engineering, Nanjing University of Aeronautics & Astronautics, Nanjing 211106, China.

This article reviews the autonomous manipulation strategies of biological cells utilizing optical tweezers, mainly including optical direct and indirect manipulation strategies. The typical and latest achievements in the optical manipulation of cells are presented, and the existing challenges for autonomous optical manipulation of biological cells are also introduced. Moreover, the integrations of optical tweezers with other manipulation tools are presented, which broadens the applications of optical tweezers in the biomedical manipulation areas and will also foster new developments in cell-based physiology and pathology studies, such as cell migration, single cell surgery, and preimplantation genetic diagnosis (PGD). Read More

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May 2018
5 Reads

Time-lapse imaging reveals delayed development of embryos carrying unbalanced chromosomal translocations.

J Assist Reprod Genet 2018 Nov 12. Epub 2018 Nov 12.

IVF Lab & Wolfe PGD-Stem Cell Lab, Racine IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, 6 Weizman Street, 6423906, Tel Aviv, Israel.

Purpose: The purpose of the study was to compare the morphokinetic parameters of embryos carrying balanced chromosomal translocations with those carrying unbalanced chromosomal translocations using time-lapse microscopy.

Methods: The study group included 270 embryos that underwent biopsies on day 3 for preimplantation genetic diagnosis (PGD) for chromosomal translocations in our unit between 2013 and 2015. All embryos were incubated under time-lapse microscopy and evaluated for timing of developmental events up to day 5. Read More

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November 2018
1 Read

The model of "genetic compartments": a new insight into reproductive genetics.

J Assist Reprod Genet 2018 Nov 12. Epub 2018 Nov 12.

IVF Laboratory, IVIRMA-Valencia, Plaça de la Policia Local, 3, 46015, València, Spain.

Currently, we are witnessing revolutionary advances in the analytical power of genetic tools. An enormous quantity of data can now be obtained from samples; however, the translation of genetic findings to the general status of individuals, or their offspring, should be done with caution. This is especially relevant in the reproductive context, where the concepts of "transmission" and "inheritability" of a trait are crucial. Read More

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November 2018
3 Reads

New functions for old factors: the role of polyamines during the establishment of pregnancy.

Reprod Fertil Dev 2018 Nov 13. Epub 2018 Nov 13.

Implantation is essential for the establishment of a successful pregnancy, and the preimplantation period plays a significant role in ensuring implantation occurs in a timely and coordinated manner. This requires effective maternal-embryonic signalling, established during the preimplantation period, to synchronise development. Although multiple factors have been identified as present during this time, the exact molecular mechanisms involved are unknown. Read More

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November 2018
4 Reads

Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst.

Hum Reprod 2018 Nov 12. Epub 2018 Nov 12.

Zouves Fertility Center, Foster City, CA, USA.

Study Question: Is a clinical trophectoderm (TE) biopsy a suitable predictor of chromosomal aneuploidy in blastocysts?

Summary Answer: In the analyzed group of blastocysts, a clinical TE biopsy was an excellent representative of blastocyst karyotype in cases of whole chromosome aneuploidy, but in cases of only segmental (sub-chromosomal) aneuploidy, a TE biopsy was a poor representative of blastocyst karyotype.

What Is Known Already: Due to the phenomenon of chromosomal mosaicism, concern has been expressed about the possibility of discarding blastocysts classified as aneuploid by preimplantation genetic testing for aneuploidy (PGT-A) that in fact contain a euploid inner cell mass (ICM). Previously published studies investigating karyotype concordance between TE and ICM have examined small sample sizes and/or have utilized chromosomal analysis technologies superseded by Next Generation Sequencing (NGS). Read More

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November 2018
6 Reads

Cross-border preimplantation genetic diagnosis.

Reprod Biomed Soc Online 2018 Aug 25;6:22. Epub 2018 Sep 25.

Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

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August 2018
1 Read

Frameless robot-assisted stereoelectroencephalography for refractory epilepsy in pediatric patients: accuracy, usefulness, and technical issues.

Acta Neurochir (Wien) 2018 Dec 9;160(12):2489-2500. Epub 2018 Nov 9.

Pediatric Neurosurgery Department, Sant Joan de Déu Barcelona Children's Hospital, Universitat de Barcelona, Passeig de Sant Joan de Déu 2, 08950, Esplugues de Llobregat, Barcelona, Spain.

Background: Stereoelectroencephalography (SEEG) is an effective technique to help to locate and to delimit the epileptogenic area and/or to define relationships with functional cortical areas. We intend to describe the surgical technique and verify the accuracy, safety, and effectiveness of robot-assisted SEEG in a newly created SEEG program in a pediatric center. We focus on the technical difficulties encountered at the early stages of this program. Read More

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December 2018
3 Reads

Single cell transcriptome analysis of human, marmoset and mouse embryos reveals common and divergent features of preimplantation development.

Development 2018 Nov 9;145(21). Epub 2018 Nov 9.

Wellcome Trust - Medical Research Council Stem Cell Institute, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK

The mouse embryo is the canonical model for mammalian preimplantation development. Recent advances in single cell profiling allow detailed analysis of embryogenesis in other eutherian species, including human, to distinguish conserved from divergent regulatory programs and signalling pathways in the rodent paradigm. Here, we identify and compare transcriptional features of human, marmoset and mouse embryos by single cell RNA-seq. Read More

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November 2018
2 Reads
6.460 Impact Factor

Randomized, Double-Blind, Placebo-Controlled, Single Ascending Dose Trial of Synthetic Preimplantation Factor in Autoimmune Hepatitis.

Hepatol Commun 2018 Oct 26;2(10):1235-1246. Epub 2018 Sep 26.

University of Miami Schiff Center for Liver Diseases Miami Florida.

Preimplantation factor (PIF) is an evolutionary conserved peptide secreted by viable embryos which promotes maternal tolerance without immune suppression. Synthetic PIF (sPIF) replicates native peptide activity. The aim of this study was to conduct the first-in-human trial of the safety, tolerability, and pharmacokinetics of sPIF in patients with autoimmune hepatitis (AIH). Read More

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October 2018
7 Reads

Innovations in assisted reproductive technologies: impact on contemporary donor egg practice and future advances.

Fertil Steril 2018 Nov;110(6):994-1002

Instituto Valenciano de Infertilidad and Department of Pediatrics, Obstetrics, and Gynecology, School of Medicine, Valencia University, Valencia, Spain.

Innovations in assisted reproductive technologies (ART) have driven progress in the donor egg field since the birth of the first baby derived from a donor egg in 1983. Over time, donor oocytes have become an increasingly used option for patients unable to conceive with autologous oocytes. In donor egg, the unique separation of the oocyte source and recipient uterus has created a model that has propelled advances in ART. Read More

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November 2018
4 Reads

RHOA activity in expanding blastocysts is essential to regulate HIPPO-YAP signaling and to maintain the trophectoderm-specific gene expression program in a ROCK/actin filament-independent manner.

Mol Hum Reprod 2018 Nov 5. Epub 2018 Nov 5.

1Institute for Biogenesis Research, Department of Anatomy, Biochemistry and Physiology, John A. Burns School of Medicine, University of Hawaii at Manoa, Honolulu, Hawaii 96813, USA.

Study Question: What molecular signals are required to maintain the functional trophectoderm (TE) during blastocyst expansion of the late stage of preimplantation development?

Summary Answer: The activity of ras homology family member A (RHOA) GTPases is necessary to retain the expanded blastocyst cavity and also to sustain the gene expression program specific to TE.

What Is Known Already: At the early stages of preimplantation development, the precursor of the TE lineage is generated through the molecular signals that integrate RHOA, RHO-associated coiled-coil containing protein kinase (ROCK), the apicobasal cell polarity, and the HIPPO-Yes-associated protein (YAP) signaling pathway. By contrast, molecular mechanisms regulating the maintenance of the TE characteristics at the later stage, which is crucial for blastocyst hatching and implantation, are scarcely understood. Read More

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November 2018
3 Reads

The cytogenetic constitution of human blastocysts: insights from comprehensive chromosome screening strategies.

Hum Reprod Update 2018 Nov 5. Epub 2018 Nov 5.

IVI RMA Global, Magdalen Centre Oxford Science Park, Oxford, UK.

Background: Embryos that are able to form blastocysts have succeeded in activating their genome and differentiating into two cell types-an external layer of trophectoderm cells, which will go on to form extra-embryonic tissues such as the placenta, and the inner cell mass, which will give rise to the embryo proper. Culturing embryos to the blastocyst stage has become an increasingly popular IVF practice over the past decade. Additionally, it has been proposed that the identification and transfer of euploid blastocysts could significantly improve IVF outcomes. Read More

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November 2018
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Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.

Curr Genet Med Rep 2018 Jun 2;6(2):62-72. Epub 2018 May 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Purpose Of Review: Primary mitochondrial disease encompasses an impressive range of inherited energy deficiency disorders having highly variable molecular etiologies as well as clinical onset, severity, progression, and response to therapies of multi-system manifestations. Significant progress has been made in primary mitochondrial disease diagnostic approaches, clinical management, therapeutic options, and preventative strategies that are tailored to major mitochondrial disease phenotypes and subclasses.

Recent Findings: The extensive phenotypic pleiotropy of individual mitochondrial diseases from an organ-based perspective is reviewed. Read More

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June 2018
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Epigenetic disruption of estrogen receptor alpha is induced by a glyphosate-based herbicide in the preimplantation uterus of rats.

Mol Cell Endocrinol 2018 Nov 2. Epub 2018 Nov 2.

Instituto de Salud y Ambiente del Litoral (ISAL), Facultad de Bioquímica y Ciencias Biológicas, Universidad Nacional del Litoral - Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Santa Fe, Argentina. Electronic address:

Previously, we have shown that perinatal exposure to a glyphosate-based herbicide (GBH) induces implantation failures in rats. Estrogen receptor alpha (ERα) is critical for successful implantation. ERα transcription is under the control of five promoters (E1, OT, O, ON, and OS), which yield different transcripts. Read More

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November 2018
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