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Trisomy 21 clinical trials

View clinical trials related to Trisomy 21.

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NCT ID: NCT05307523 Completed - Down Syndrome Clinical Trials

Use of Partial Body Weight Support Play Environment to Encourage Mobility and Exploration in Infants With Down Syndrome

Start date: February 14, 2022
Phase: N/A
Study type: Interventional

To explore the effects of Partial Body Weight Support (PBWS) within an enriched play environment for infants with Down Syndrome (DS), who are not yet walking, to better understand how PWBS may impact their mobility; exploration; and overall activity level. - Hypothesis1 A: Infants will demonstrate increased movement counts on an ActiGraph during intervention compared to a control phase. Hypothesis 1B: Infants will demonstrate a higher frequency of exploratory behaviors during the intervention as compared to a control phase. - Hypothesis 2: Infants will demonstrate an increased rate of improvement in Gross Motor Function Measure scores after the intervention compared to a control phase. - Hypothesis 3: Infants will demonstrate higher parent-reported mastery motivation on the Dimensions of Mastery Questionnaire after the intervention compared to a control phase.

NCT ID: NCT05004337 Completed - Trisomy 21 Clinical Trials

Verification of Risk Assignment for Whole Chromosome Using SNP-based NIPT in Vanishing Twin Pregnancies

VANISH
Start date: July 22, 2021
Phase:
Study type: Observational

The purpose of this study is to collect blood samples from women carrying a vanishing twin pregnancy to further develop Natera's non-invasive prenatal screening test to provide information about possible chromosomal conditions for the living twin

NCT ID: NCT02872948 Completed - Trisomy 21 Clinical Trials

Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom

DIgiT21
Start date: August 2015
Phase:
Study type: Observational

The main objective of this study is to estimate the intrinsic diagnostic qualities of the digital dPCR in the screening of T21 from a multicentrique sample of patients with pregnancies at high risk of T21 (risk > 1/250). The profit expected from this technique is to propose to the encircled women a screening more successful than that of the screening combined(organized) of the 1st quarter, simple of realization and in a moderate cost. We thus propose here an original alternative(alternate) method to the exclusive, expensive and binding techniques of top-debit(-flow). The recent technical improvements and his(her,its) advantages medical - economic allow to envisage a reliable, strong and long-lasting use of the dPCR in clinical routine in the DPNI of T21 in most of the laboratories. This pilot project could serve for the later development of a study of clinical validation multicentrique of large scale(big turntable ladder).

NCT ID: NCT02381457 Completed - Clinical trials for Prader-Willi Syndrome

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

SMART
Start date: April 2015
Phase:
Study type: Observational [Patient Registry]

This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy screening as part of their routine care. The primary objective is to evaluate the performance of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for 22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will be done by performing a review of perinatal medical records and obtaining biospecimens after birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up specimens will be compared to those obtained by the Panorama screening test to determine test performance. Specific test performance parameters will include: PPV, specificity, and sensitivity.

NCT ID: NCT02278874 Completed - Trisomy 21 Clinical Trials

High Risk Multiple Gestation Study

Start date: August 2014
Phase:
Study type: Observational

The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than other currently available screening tests. This will result in fewer unnecessary amniocenteses and Chorionic Villus Sample (CVS) procedures, which are associated with a risk of miscarriage.

NCT ID: NCT02278536 Completed - Trisomy 21 Clinical Trials

Multiple Gestation Study

Start date: March 2013
Phase:
Study type: Observational

The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than any currently available screening tests. This will result in fewer unnecessary amniocenteses and CVS procedures, which are associated with a risk of miscarriage.

NCT ID: NCT02201862 Completed - Down Syndrome Clinical Trials

Non-Invasive Chromosomal Evaluation of Trisomy Study

NICHE
Start date: April 2014
Phase:
Study type: Observational

This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.

NCT ID: NCT02109770 Completed - Trisomy 21 Clinical Trials

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

Microdel Triad
Start date: October 2012
Phase:
Study type: Observational

The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

NCT ID: NCT01966991 Completed - Trisomy 21 Clinical Trials

Prenatal Screening for Down Syndrome With DNAFirst

DNAFirst
Start date: June 2014
Phase: N/A
Study type: Observational

This study will explore how maternal plasma circulating cell free DNA (ccfDNA) can be used as a primary screening test for Down syndrome as part of routine clinical care in the general pregnancy population. Plasma ccfDNA testing is currently recommended only for use as a secondary screen for 'high-risk' women (i.e., women whose risk factors for trisomy make them candidates for invasive testing such as chorionic villous sampling or amniocentesis). Because most women in this 'high-risk' category are carrying unaffected fetuses, many 'unnecessary' procedures are completed in order to identify the few women whose fetuses have a chromosomal disorder. This creates expense, anxiety, and most importantly, loss of unaffected fetuses due to procedure related miscarriage. Plasma DNA testing is now being used to reduce significantly the number of women with unaffected fetuses undergoing invasive testing. Applying such testing as a 'first-line' screen has not been well-explored, despite calls from several clinical professional societies to do so. The investigators intent is to introduce, under carefully monitored conditions, ccfDNA testing through Rhode Island primary prenatal practices to the general pregnancy population. Education/orientation of prenatal care providers, their staffs, and their patients will be carefully orchestrated, and implementation issues identified and addressed. Telephone surveys of consented patients will elicit responses to their understanding of the test, their satisfaction with the process, and a comparison of their experience with serum screening in a prior pregnancy. Knowledge gained from this study will help validate new screening paradigms involving ccfDNA testing. The study is not designed to estimate Down syndrome detection rates with any confidence, but can provide information on uptake rates, failure rates, screen positive rates, and the decision-making of women with positive test results.

NCT ID: NCT01931644 Completed - Breast Cancer Clinical Trials

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

Start date: July 2013
Phase:
Study type: Observational

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