A5039768920- Prenatal Screening and Diagnostics
- Assisted Reproductive Technology and Twin Pregnancy
- Reproductive Biology and Fertility
- Genomic variations and chromosomal abnormalities
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Syndromes and Imprinting
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Cancer Genomics and Diagnostics
- Congenital Anomalies and Fetal Surgery
- Chromosomal and Genetic Variations
- Sperm and Testicular Function
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Sexual Differentiation and Disorders
- Organ and Tissue Transplantation Research
- T-cell and B-cell Immunology
- Reproductive Health and Technologies
- Mesenchymal stem cell research
- Hearing, Cochlea, Tinnitus, Genetics
- Hematopoietic Stem Cell Transplantation
- Cancer-related Molecular Pathways
- Lipid metabolism and disorders
- Ocular Oncology and Treatments
- Immunotherapy and Immune Responses
- Pregnancy and preeclampsia studies
Igenomix
2016-2025
Valencian Infertility Institute
2007-2022
Universitat de València
2005-2022
Beth Israel Deaconess Medical Center
2022
Harvard University
2022
Baylor College of Medicine
2022
John Wiley & Sons (United Kingdom)
2018
Hudson Institute
2018
Parc Científic de la Universitat de València
2014-2015
Instituto Valenciano de la Edificación
2013
Abstract Objectives To evaluate the influence of numerical chromosomal abnormalities on preimplantation embryo development. Methods This study includes 6936 embryos from 1245 women undergoing genetic diagnosis (PGD). Indications for aneuploidy screening were: recurrent miscarriages, implantation failure, severe male factor, advanced maternal age, and mixed causes. Embryo biopsy was performed day 3, were co‐cultured until 5, when transfer performed. Results In regimen, normal euploid showed...
This study has analysed the relationship between ovarian response and number of euploid embryos. is a post hoc analysis subset data generated during prospective cohort previously published. Forty-six oocyte donors were subjected to stimulation with 150 IU rFSH 75 hp-hMG in GnRH agonist long protocol. Preimplantation genetic screening was performed all viable We observed positive When above median (≥17 oocytes), mean embryos per donor 5.0 ± 2.4, while when <17 oocytes obtained 2.7 1.4...
The objective of this study was to evaluate the usefulness comprehensive chromosome screening (CCS) using array comparative genomic hybridization (aCGH). included 1420 CCS cycles for recurrent miscarriage (<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M1"><mml:mi>n</mml:mi><mml:mo>=</mml:mo><mml:mn fontstyle="italic">203</mml:mn></mml:math>); repetitive implantation failure id="M2"><mml:mi>n</mml:mi><mml:mo>=</mml:mo><mml:mn fontstyle="italic">188</mml:mn></mml:math>); severe...
Sex discordance between cell-free DNA (cfDNA) testing and ultrasound examination is rare but can cause significant patient discomfort uncertainty. Here, we present two clinical cases where a closer of raw sequencing data allowed us to anticipate possible discrepancies caused by the insertion Y-chromosome regions into maternal genome. We used Illumina’s VeriSeq NIPT Solution v2 proprietary bioinformatics pipeline analyze cfDNA in bloodstream. Paired-end were aligned reference genome ( hg19 )....
BACKGROUND: An increased incidence of numerical chromosomal abnormalities has been reported in the ejaculated spermatozoa infertile patients. However, there are few cytogenetic studies testicular and epididymal spermatozoa, their results still controversial. METHODS: Fluorescence in‐situ hybridization (FISH) analysis chromosomes 13, 18, 21, X Y was performed on seven samples two from patients with obstructive azoospermia (OA), 13 non‐obstructive (NOA). Five sperm normozoospermic fertile...
Abstract Objective To evaluate cell‐free DNA (cfDNA) testing as a non‐invasive approach to detecting aneuploidies in clinical miscarriages. Design A retrospective cohort study of women with pregnancy loss. Setting Hospitals and genetic analysis laboratories. Population or sample Pregnancy losses the period 2021–2022. Methods Results derived from cfDNA (Veriseq NIPT Solution V2) maternal blood invasive products conception (POC) (Ion ReproSeq) compared 120 who suffered miscarriage. Main...
Abstract Objective To demonstrate the feasibility of cell‐free DNA (cfDNA) testing in vanishing twin (VT) pregnancies routine clinical practice. Methods Our study included 24 874 singleton and 206 VT consecutive pregnancies. Cell‐free was analyzed by massively parallel sequencing. Both aneuploidy analysis (chromosomes 13,18, 21, X, Y) fetal fraction estimation were performed according to an Illumina algorithm. Contaminant contribution from demised co‐twin studied detail. Results exhibited a...
To date, several studies of aneuploidy rate in spermatozoa from infertile men have been published. Most them found an increase incidence aneuploid patients compared with normal donors (Moosani et al, 1995; Finkelstein 1998; McInnes Pang 1999; Rives Vegetti 2000). However, other studies, no differences rates between fertile and were reported (Miharu 1994; Guttenbach 1997). The evaluated often showed different types sperm parameter impairments, including oligo-, astheno-, oligoastheno-,...
In our routine programme of preimplantation genetic aneuploidy screening (PGS) by fluorescence in situ hybridization (FISH), nine chromosomes (13, 15, 16, 17, 18, 21, 22, X and Y) are analysed two consecutive rounds. We also perform additional rounds for these chromosomes, using probes that bind to different loci, non-conclusive results confirmation certain aneuploidies. The aim this study was evaluate the impact on FISH accuracy.This is a retrospective analysis data from 1000 PGS cycles...
There is a growing interest in generating dendritic cells (DCs) for using as vaccines. Several cytokines, especially stem cell factor (SCF) and FLT3‐ligand (FL), have been identified essential to produce large numbers of myeloid precursors even increase DC yield obtained by the action granulocyte‐macrophage colony‐stimulating (GM‐CSF) tumor necrosis alpha (TNF‐α). However, there are few studies on effect early‐acting commonly used expand CD34+ progenitor cells, generation. We report here...
Previous observations have addressed a decreased male:female ratio associated with smoking. Our aim was to assess whether this effect is observed at the spermatozoa or early embryo development.We retrospectively assessed smoking intake habits of 56 couples included in our preimplantation genetic diagnosis (PGD) program. Three groups were established according male female cigarette consumption per day: non-smokers, smokers (1-19 cigarettes day) and heavy (> =20 day). Fluorescence in-situ...
Abstract Objective(s) We sought to develop an accurate sex classification method in twin pregnancies using data obtained from a standard commercial non‐invasive prenatal test. Study Design A total of 706 were included this retrospective analytical study. Normalized chromosome values for chromosomes X and Y used adapted into sex‐score predict fetal each fetus, results compared with the clinical outcome at birth. Results Outcome information birth was available 232 pregnancies. From these, 173...