View clinical trials related to Chromosome Disorders.
Filter by:The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.
The purpose of this prospective cohort study is to build a large platform that includes clinical information (prenatal diagnosis and postnatal follow-up data) and biological specimen banks of fetuses/infants with IUGR or congenital anomalies, which provide vital support and research foundation for accurate diagnosis, precision treatment and meticulous management.
This diagnostic test is aimed to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies. Pregnant women who needed prenatal genetic diagnosis meted the study criterion; fetal amniotic fluid was regular examined by Karyotyping and CMA, and maternal peripheral blood was collected for NIPT detecting. And the CMA result as a golden standard, the main outcome is compared the diagnostic efficacy of NIPT for diagnosing chromosomal anomalies.
Lite Run is a new assistive device that may have FDA listing as a Class I device by mid 2017 based on clinical testing of adults, independent agency testing and in-house evaluations. This will be a combined study with multiple purposes with respect to the evaluation of its use with the post-operative pediatric population. A first purpose is to verify safety and feasibility of the device on pediatric patients. A second purpose is to statistically test the effectiveness of Lite Run to decrease physical burden on the therapist during post-operative gait training for children and adolescents with cerebral palsy as compared to current methods of body weight-supported gait training. A third purpose is to measure and qualitatively evaluate the effectiveness of the device on patient outcomes and improving patient and therapist satisfaction.
The risk of abnormal chromosome and structure is much higher in twins than in singletons, and traditional early pregnancy screening strategy for single pregnancy is not suitable for twins. Based on our management experience of fetal medicine at twin pregnancy, and multi-center cooperation, the study will carry out the following clinical studies: 1. to explore a suitable, early, noninvasive and accurate prenatal screening strategy for twin pregnancy. 2. fetal chromosomal abnormalities
In the way for developing and optimizing protocol to be used as non- invasive methodology used as routine testing for PGS. This protocol is to be adapted to replace the using of life embryo cells for genetic testing and aneuploidy study as well as for any type of genetic testing including single gene disorder or HLA typing or study.
Recent years, women with infertility have become more and more and thus assisted reproductive technology has been applied in a broad range. And the quantities of twin pregnancies are larger and larger. However, complicated twin pregnancy subsequently increased including selective intrauterine growth restriction (sIUGR), twin growth discordance, twin transfusion syndrome (TTTS) and intrauterine fetal death (IUFD). The occurrence of complicated twin pregnancy has been the leading cause of morbidity and mortality in twin and mother. Meanwhile, twin pregnancy, especially monochorionic type has suffered from higher rate of chromosomal anomalies and structural anomalies. Therefore, it is important that more attention should be paid to the prediction, clinical evaluation and the occurrence of chromosomal anomalies and structural anomalies in complicated twin pregnancy. So far, prenatal ultrasound has been acknowledged as the best method for prenatal diagnosis and evaluation in twin pregnancy. By means of the application of prenatal ultrasound, the detection of fetal chromosome, and secondary correlation analysis, the investigators try to build prenatal ultrasound monitoring system of twin pregnancy and provide evidences for the choice of intervention and delivery time, in order to decrease the morbidity and mortality of twin and improve perinatal short and long outcomes. The goals of this study are as below: (1) primary goal: the prediction of complicated twin pregnancy by using prenatal ultrasound; (2) primary goal: the clinical evaluation of perinatal outcomes in twin pregnancy by using prenatal ultrasound; (3) secondary goal: the analysis of the correlation between prenatal ultrasound and fetal anomalies.
This is a pilot study examining the efficacy, safety and tolerability of intranasal oxytocin as a novel treatment in Phelan-McDermid syndrome (PMS). This study will utilize a randomized, placebo-controlled design for 12 weeks (phase 1), followed by an open-label extension for 12 weeks (phase 2). The purpose is to evaluate the effect of intranasal oxytocin on impairments in attention, social memory, socialization, language, and repetitive behaviors.
"electronic nose"- the tiny sensors, will smell and detect the changes in the sample of abnormal fetal karyotype, and fluid that will be confirmed by amniocentesis.
The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.