Clinical trials: Chromosome 21 Aneuploidy
Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy
Non-invasive Prenatal Diagnostic Validation Study
The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.
- Conditions
- Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy, Sex Chromosome Aberrations
- Trial name
- NIPD (NCT01574781)
- Testing
- Blood draw, Cheek swab/Saliva Sampling
- Where
- United States
- Volunteers
- 1,781 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Trisomy 21
Paternal Age and Fetal Aneuploidy
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…
- Trial name
- NCT05981521
- Testing
- Optimo prenatal screening test
- Where
- Canada
- Volunteers
- 7,141 people
- Sponsor
- Clinique Ovo
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
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…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Chromosomal Aneuploidies (e.g., Trisomy 21, Trisomy 18, Trisomy 13); Prenatal Screening Accuracy
Evaluation of Fetal Bladder Emptying During the 11-14 Weeks' Ultrasound Examination as a Negative Predictive Marker for Chromosomal Abnormalities
Template-Based Brief Summary (Sağlık Profesyonelleri İçin) Study Title: The Negative Predictive Value of First-Trimester Fetal Bladder "Rapid Emptying" (≤40 minutes and post-void ≤2 mm) for Major Chromosomal Aneuploidies: A…
- Trial name
- NCT07165743
- Testing
- 40-Minute Real-Time First-Trimester Ultrasonography
- Where
- Turkey (Türkiye)
- Volunteers
- 270 people, healthy volunteers welcome
- Sponsor
- Haseki Training and Research Hospital
Aneuploidy, Trisomy 21
Prenatal Test for Fetal Aneuploidy Detection
The purpose of this study is to develop and evaluate a blood test for pregnant women for detection of fetal aneuploidy.
- Trial name
- NCT01256606
- Where
- 6 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Roche Sequencing Solutions
Aneuploidy, Trisomy 21
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.
- Conditions
- Aneuploidy, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- NICHE (NCT02201862)
- Where
- 3 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
Trisomy 21, Trisomy 18
Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood
Each year, 450,000 Canadian women become pregnant and, as a result of their participation in prenatal screening for Down syndrome, approximately 10,000 of them will have an amniocentesis (i.e.
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- PEGASUS (NCT01925742)
- Testing
- Integrated prenatal screening for Down's syndrome, Serum QUAD Assay for aneuploidy screening, Semiconductor MPSS NIPT assay using ccfDNA in maternal blood
- Where
- 5 sites in Canada
- Volunteers
- 3,819 people, healthy volunteers welcome
- Sponsor
- CHU de Quebec-Universite Laval
Trisomy 21
Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA
There are 26,600 Down Syndrome newborns every year in China. The economic burden of this disease is 65,000 USD for lifetime of every patient.
- Trial name
- DBS&CFF (NCT01837979)
- Testing
- cell-free fetal DNA
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Pregnant Individuals, Aneuploidy
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of…
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome
- Trial name
- ADVANCE (NCT07643896)
- Where
- 9 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- BillionToOne Inc.
Trisomy 21
Non-invasive Chromosomal Examination of Trisomy Study
The purpose of this blinded, multi-center, prospective, case-controlled study is to compare the Ariosa Harmony™ Prenatal Test for trisomy 21 detection with a standard first-trimester prenatal screening test consisting of serum…
- Trial name
- NEXT (NCT01511458)
- Where
- 36 sites in United States, Belgium and 4 more
- Volunteers
- 18,955 people
- Sponsor
- Roche Sequencing Solutions
Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18)
Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.
- Conditions
- Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Turner Syndrome
- Trial name
- NCT00770458
- Where
- 7 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Sequenom, Inc.
Pregnant Women, Prenatal Care
MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy
The primary objective of this study is to determine the performance characteristics (sensitivity and specificity) of the Verinata Health Test to detect fetal Trisomy 21 (T21) compared to karyotype results obtained by…
- Trial name
- MELISSA (NCT01122524)
- Where
- 11 sites in United States
- Volunteers
- 10,000 people
- Sponsor
- Verinata Health, Inc.
Down Syndrome, Fetal Aneuploidy
Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
- Trial name
- NCT01555346
- Where
- 29 sites in United States, Canada
- Volunteers
- 3,062 people
- Sponsor
- Sequenom, Inc.
Trisomy 21 and Other Fetal Aneuploidy
Automated Screen for Fetal Aneuploidy
The purpose of this study is to develop and evaluate a blood test and automated microfluidic test platform for the prenatal screening of fetal aneuploidy.
- Trial name
- FAST1 (NCT03635359)
- Testing
- blood test
- Where
- 6 sites in Australia, Belgium and 4 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- BioCeryx
Aneuploidy
National Prevalence and Impact of Noninvasive Prenatal Testing
Information on pregnant women undergoing non-invasive prenatal testing (NIPT) at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and an analysis of the…
- Trial name
- NCT02284399
- Testing
- non-invasive prenatal testing
- Where
- 7 sites in United States
- Volunteers
- 4,488 people, healthy volunteers welcome
- Sponsor
- Obstetrix Medical Group
Trisomy 21, 18 and 13 Screening
T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients
The purpose of this study is to evaluate the performance of non invasive screening in a population of pregnant women with and without in vitro fertilisation (IVF) concomitantly to regular first trimester trisomy 21 (T21)…
- Trial name
- DEPOSA (NCT02424474)
- Testing
- Genetic NIPT, Regular serum screening
- Where
- France
- Volunteers
- 933 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Decision Aid
Scaling a Decision Aid on Prenatal Screening for Trisomy 21, 18 and 13
This research project aims at assessing the effectiveness of a decision aid (DA) scaling intervention within the context of prenatal screening for trisomy 21, 18 and 13.
- Trial name
- PEGASUS-II (NCT05859139)
- Testing
- DA Scaling Strategies
- Where
- Canada
- Volunteers
- 887 people
- Sponsor
- CHU de Quebec-Universite Laval
Down Syndrome, Trisomy 21
A New Prenatal Blood Test for Down Syndrome
The study will examine the sensitivity and specificity of a circulating cell-free nucleic acid test (DNA/RNA) to identify Down syndrome between about 10 weeks and 21 weeks 6 days gestation.
- Trial name
- RNA (NCT00877292)
- Where
- 27 sites in United States, Argentina and 8 more
- Volunteers
- 4,664 people
- Sponsor
- Women and Infants Hospital of Rhode Island