Time-Lapse Incubation for Embryo Culture - Morphokinetics and Environmental Stability
InfertilityGenetic DiseasesEmbryo culture and selection has been a continuous challenge in evolution since the birth of In Vitro Fertilization (IVF). Traditionally, embryo quality and its presumed suitability for transfer were assessed based on morphologic features. However, the consensus as to the optimal time points for embryo assessment and as to 'preferable' characteristics have been challenging. Alongside this has been the challenge of achieving balance between multiple points of assessment, yet stabilizing the embryo environment for growth. In standard incubation, each new morphological assessment of embryos in culture theoretically creates an additional disruption to culture. Most recently, time-lapse incubators (TLI) have been introduced as a novel embryo culture system attempting to limit culture disturbances. These incubators have been integrated with digital imaging, allowing for a substantial limitation in embryo handling and environmental disturbances. They have also introduced new morphokinetic parameters to embryo assessment and to optimizing selection of embryos. Thus far, a limited number of studies have examined the clinical outcomes and value of time lapse monitoring systems versus the more ubiquitous incubators (e.g. multichamber) for reproductive outcomes. In particular, the isolated value of morphokinetics in embryo assessment and of this new stable culture environment in TLI are still in question. The objectives of this study are to prospectively assess and compare fertility outcomes when embryos are cultured in the TLI system versus more traditional bench incubators (BI). We will specifically assess the added value of the closed and isolated TLI compared to BI on reproductive outcomes, as well as the value of morphokinetic grading in IVF.
The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care
Rare DiseasesGenetic DiseaseThe VetSeq Study is a pilot intervention study exploring the feasibility of integrating genome sequencing into clinical care at the VA Boston Healthcare System.
Clinical Implementation of Carrier Status Using Next Generation Sequencing
Genetic DisordersThis study is conducting a randomized controlled trial (RCT) with up to 400 subjects (women & partners) seeking pre-conception carrier testing to assess the impact of the program using Whole Genome Sequencing (WGS). The investigators hypothesize that whole genome sequencing will increase the detection of carrier status for Mendelian recessive and x-linked conditions. The investigators hypothesize that parents will act on the knowledge of their carrier status by making different reproductive choices than parents who do not receive this information. The investigators hypothesize that the psychosocial risks are increased among parents who receive expanded carrier screening using Next Generation Sequencing (NGS) compared with usual care.
Parental Consanguinity and Family History of Kidney Disease in Turkish Kidney Disease Population...
Hereditary DiseasesInbreeding and consanguineous marriages are known to increase the risk of autosomal recessive disorders. The aim of this study was to examine the association between consanguinity and kidney diseases in the adult Turkish population.
Method of Genetic Analysis in Genodermatoses
GenodermatosisRare Genetic Disease With Cutaneous ExpressionThe goal of the study is to develop a method of genetic diagnosis in two stages, by mendelioma then by genome and transcriptome on fibroblast culture, in genodermatoses and rare diseases with cutaneous expression in the child.
Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics
AneuploidyGenetic Disease1 moreThe investigators propose a randomized controlled trial to assess baseline maternal knowledge of and attitudes toward commercial prenatal genetic testing laboratories' genetic privacy practices, and to determine whether a brief educational intervention alters these attitudes.
Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS)
Developmental Delay DisorderGenetic Disease3 moreEnvironment which children live and grown is very important for the all development stages. In Turkey there is no measurement for home environment evaluation so our aim is to investigate the Psychometric Properties of the Turkish version of Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS) in a sample of Turkısh children.
Observational Prospective Study on Patients Treated With Norditropin®
Growth Hormone DisorderGrowth Hormone Deficiency in Children8 moreThis observational study is conducted globally. The aim of the study is to investigate the effectiveness and safety of real-life treatment with Norditropin®. The study population will consist of children and adults who are on treatment with Norditropin® in accordance with normal clinical practice.
Rare Genetic Disorders of the Breathing Airways
Kartagener SyndromeCystic Fibrosis2 moreMucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can cause infections, are normally entrapped in mucus on the airway surfaces and then cleared out by the coordinated action of tiny hair-like structures called cilia. Individuals with primary ciliary dyskinesia, variant cystic fibrosis, and pseudohypoaldosteronism have defective mucociliary clearance. The purpose of this study is to collect clinical and genetic information about these three airway diseases to improve current diagnostic procedures.
A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic...
ScreeningAortic Aneurysm and Dissection1 moreThe primary hypothesis is that a tailored programme of genetic and imaging screening of first- and second-degree relatives of patients affected by non-syndromic forms of thoracic aortic diseases will identify individuals at risk of death from these conditions. These individuals would constitute specific population of patients, requiring dedicated imaging surveillance and/or earlier prophylactic aortic surgery.