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Trisomy 21 clinical trials

View clinical trials related to Trisomy 21.

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NCT ID: NCT06200519 Not yet recruiting - Clinical trials for Gestational Diabetes

Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography

DiFuSE
Start date: January 2024
Phase:
Study type: Observational

The goal of this single-centre longitudinal observational study is to create reference values for diastolic function parameters in neonates born at 35 weeks' gestation or above, and to assess the influence of pre-defined antenatal, intrapartum, maternal, and neonatal factors on cardiac function. The main question it aims to answer are: - What are the normal reference ranges for parameters of diastolic cardiac function in neonates? - How are these influenced by maternal, intrapartum and neonatal factors? - Do the diastolic changes noted during the first two days of life persist into infancy? Participants will have four echocardiographic assessments in total: - Two during the first 48 hours of life (prior to discharge home) - Two during infancy (as an outpatient)

NCT ID: NCT05981521 Active, not recruiting - Trisomy 21 Clinical Trials

Paternal Age and Fetal Aneuploidy

Start date: July 31, 2023
Phase:
Study type: Observational

Trisomy 21, commonly known as down syndrome, is the most common chromosomal abnormality in humans. Advanced maternal age (AMA) is a well-recognized risk factor for trisomy 21, with the risk increasing significantly beyond the age of 35. Research on the effects of paternal age on the prenatal risk of trisomy 21 is lacking, with inconsistent findings in the literature. The Harmony® prenatal test is an Non-Invasive Prenatal Testing (NIPT) that screens maternal blood for chromosomal abnormalities in the Cell-Free Fetal DNA (cfDNA). The harmony® prenatal test can detect conditions such as trisomy 13, 18, and 21, as well as sex chromosome abnormalities. The Optimo test is a prenatal screening test that screens for trisomies 13, 18 and 21 in the developing fetus using extended biochemical screening in maternal. The Optimo test has shown high sensitivity and specificity in detecting trisomy 21.

NCT ID: NCT05970965 Not yet recruiting - Periodontitis Clinical Trials

Periodontitis and Inflammation in Children With Down Syndrome/Trisomy 21: Study on Biological Samples

NT21
Start date: March 13, 2024
Phase: N/A
Study type: Interventional

Since 2018, the Chicago Classification of Periodontal Diseases and Conditions, has listed Down syndrome (DS)/trisomy 21 (T21) as a systemic disease with periodontal implications. Numerous studies report an increased prevalence and severity of periodontitis in DS/T21 individuals under the age of 35. Approximately 35% of adolescents with DS show early signs of alveolar bone loss. However, very few studies have examined the role of immune deficiency in DS/T21 patients in the pathogenesis of periodontitis. Indeed, periodontitis induced by bacterial plaque is virtually non-existent in the paediatric population, leaving the field to systemically-induced periodontitis. The investigators hypothesize that specific neutrophil phenotypes in DS/T21 patients are key to explaining the rapid progression to periodontitis. Investigator's primary objective is to characterize the different oral and blood neutrophil subtypes in DS/T21 children with gingival inflammation. Investigator's secondary objective is to assess the involvement of different neutrophil subtypes in early periodontitis in children with DS/T21.

NCT ID: NCT05527652 Recruiting - Clinical trials for Obstructive Sleep Apnea

Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia

Start date: November 16, 2022
Phase: N/A
Study type: Interventional

The researchers are investigating if the Self-Supporting Nasopharyngeal Airway (ssNPA) device can be used in the treatment of obstructive sleep apnea in children with Hypotonic Upper Airway Obstruction (HUAO).

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: NCT04747275 Terminated - Hypothyroidism Clinical Trials

Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients

Start date: January 18, 2021
Phase: Phase 4
Study type: Interventional

Children with levothyroxine (T21) have developmental delay and other functional gastrointestinal (GI) issues that may negatively affect L-T4 tolerability and absorption. For an age group unable to swallow tablets whole by mouth, tablets must be crushed and suspended in water, breast milk or formula for administration in order to treat children with hypothyroidism. For this age group, ease of administration may have a significant impact on compliance and ability to remain euthyroid. We propose that Tirosint-SOL® will be more favorably received due to ease of administration, improved tolerability and palatability, therefore leading to improved adherence when compared to L-T4 tablets.

NCT ID: NCT04737070 Not yet recruiting - Trisomy 21 Clinical Trials

Study of High Risk Non Invasive Prenatal Test Population

Start date: February 1, 2021
Phase:
Study type: Observational

The investigator want to study the population of high risk (over 1/50) of Trisomy 21. According to french guidelines, these patients needs to have a invasive test (such as amniocentesis) but some patients prefer to have a Non Invasive Prenatal Test, with a potential lack of information.

NCT ID: NCT03687866 Terminated - Trisomy 21 Clinical Trials

Non-invasive Screening of Fetal Trisomy 21 by Digital PCR

dPNI-T21
Start date: January 2013
Phase:
Study type: Observational

In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical markers in the maternal blood, and the measurement of a fetal ultrasound parameter (nuchal translucency). In the population of pregnant women said to be at high risk (R> 1/250), confirmation of the diagnosis of DS is made by invasive sampling (trophoblast biopsy or amniocentesis), which allows the establishment of fetal karyotype. In addition to limited sensitivity (80 to 85% depending on the techniques), this screening is an anxiety factor (8% false positives), and miscarriages of euploid fetuses (normal karyotype) in 1% of cases (procedures invasive). The plasma of a pregnant woman contains a mixture of free DNA of maternal (90%) and fetal origin (cffDNA for cell free fetal DNA) (about 10%, but this proportion increases in cases of fetal trisomy 21. The proportion of cffDNA is sufficient to qualitatively and quantitatively study specific genetic markers of a pair of chromosomes. It is therefore possible to evaluate the quantity of markers chromosome of interest relative to a reference chromosome marker, and to calculate a marker / marker ratio of interest, theoretically identical for all autosomes (chromosomes 1 to 22) during euploid pregnancy. In case of fetal aneuploidy (for example, trisomy 21), this ratio is unbalanced for the chromosomal pair involved. Advances in technology, such as high-throughput mass sequencing (MPS) and digital PCR (dPCR), now make it possible to consider the diagnosis of fetal maternal DS through the study of cffDNA. Several teams have already published on this subject with the MPS technique, applied directly to free DNA from maternal plasma, or after a cffDNA isolation step. This involves sequencing the DNA fragments present in the sample and placing them back on their original chromosome. In case of trisomy 21 fetal, one seeks to put in evidence of an excess of sequences from chromosome 21. These techniques require expensive equipment (sequencer, bioinformatic platform, servers) and a technical time and important analysis (often several days for a single run). Concerning the research of aneuploidies by digital PCR (dPCR), few publications are today due to the absence of sufficiently powerful instruments until recently. DPCR is less expensive.

NCT ID: NCT03559374 Enrolling by invitation - Trisomy 21 Clinical Trials

Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)

Start date: June 20, 2018
Phase:
Study type: Observational

This study will assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13. The results obtained from Vanadis NIPT will be compared with the study site's current prenatal screening methods. The primary objectives are: 1) To assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13 in the maternal healthcare setting, 2) To assess preliminary performance of Vanadis NIPT for screening of T21 in comparison to site's routine screening methods i.e. combined and integrated tests, and 3) To evaluate preliminary cost effectiveness of Vanadis NIPT use in different models. The secondary objective is to assess the feasibility of Vanadis NIPT regarding determination of fetal sex.