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Down's Syndrome Clinical Trials

A listing of Down's Syndrome medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

RESULTS

Found (9) clinical trials

Non-Invasive Determination of Fetal Chromosome Abnormalities

The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter ...

Phase N/A

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

The primary objective is to determine in a prospective study the performance of SNP based NIPT for the 22q11.2 microdeletion (DiGeorge syndrome) in a large cohort of pregnant women clinically opting for this form of screening. Specific test performance parameters will include: positive predictive value (PPV), specificity, and sensitivity. Secondary ...

Phase N/A

Whole Blood Specimen Collection From Pregnant Subjects

This sample collection protocol allows for the identification, recruitment, and participation in women who are pregnant and are known to: be at an increased risk for fetal genetic abnormalities be at increased risk for congenital fetal infection by virtue of being positive by initial screening tests, or are known to ...

Phase N/A

Non-Invasive Chromosomal Evaluation of Trisomy Study

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.

Phase N/A

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

Eligible subjects will provide written informed consent after which basic demographic and clinical data will be collected. Study procedures involve the collection of 50 mL of whole blood at one or more monthly clinic visits (25 days apart) from pregnant women (18 to 54 yrs of age) carrying a single ...

Phase N/A

Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies

To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from women who are pregnant with a fetus previously determined to have a chromosomal abnormality. The NIPD ...

Phase N/A

Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy

To collect specimens for the purpose of developing a prenatal aneuploidy test. The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) ...

Phase N/A

Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom

Context Currently, non-invasive screening test for trisomy 21 (Down syndrome) is proposed to every pregnant woman. This first trimester combined test consists of ultrasound nuchal translucency measurement, associated with different maternal serum biochemical assay and maternal age. Since the discovery of the presence of cell-free fetal DNA in maternal plasma, ...

Phase N/A

Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies

350 low risk and 150 high risk women with twin pregnancies will be recruited to produce a large cohort evaluation the use of the IONA test in twin pregnancies for Downs, Edwards and Patau syndrome. Reserve samples will also be used to further develop the test for other chromosomal abnormalities.

Phase N/A