Clinical trials: Chromosomal Aneuploidies
Aneuploidy, Chromosome Abnormality
RCT Study to Validate niPGT-A Clinical Benefit.
Chromosomal aneuploidies are linked with spontaneous miscarriages and abnormal offspring in human pregnancies. In addition, some types of aneuploidies are reported to prevent implantation.
- Conditions
- Aneuploidy, Chromosome Abnormality, Infertility
- Trial name
- niPGT-A_RCT (NCT04000152)
- Testing
- niPGT-A, Morphology criteria
- Where
- 8 sites in Argentina, Brazil and 3 more
- Volunteers
- 296 people
- Sponsor
- Igenomix
Infertility (IVF Patients)
Pilot Study of Discarded Blastocysts
The goal of this observational study is to determine multiomics patterns related to global embryo quality to help overcome the limitations of conventional embryo quality assessment.
- Trial name
- DECODE (NCT07429097)
- Testing
- Multiomics analysis
- Where
- Norway
- Volunteers
- 150 people
- Sponsor
- Igenomix
Aneuploidy, Chromosome Abnormality
Multi-center Study to Validate niPGT-A
Abnormal chromosome number, or aneuploidy, is common in human embryos. It is responsible for more than half of all miscarriages, and it is the leading cause of congenital birth defects.
- Conditions
- Aneuploidy, Chromosome Abnormality, Infertility
- Trial name
- niPGT-A (NCT03520933)
- Testing
- PGT-A, niPGT-A
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 2,586 people
- Sponsor
- Igenomix
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.
Down Syndrome, Aneuploidy
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…
- Trial name
- CHARMM-AP (NCT01052688)
- Testing
- Maternal blood draw of 30 to 50ml
- Where
- 10 sites in United States
- Volunteers
- 150 people
- Sponsor
- Sequenom, Inc.
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.
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.
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
Down Syndrome, Edwards Syndrome
Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies
This study will evaluate the clinical performance of massively parallel sequencing (MPS) using the MaterniT21 PLUS LDT in the detection of fetal aneuploidy in circulating cfDNA extracted from a maternal blood sample obtained from…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
- Trial name
- NCT02226315
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Sequenom, Inc.
Infertility, Female, Infertility, Male
Embryo Assessment Utilizing Timelapse Imaging in Conjunction With Preimplantation Genetic Testing for Aneuploidy With Next Generation Sequencing
The goal of this observational study is to discern if there is a relationship between timelapse imagery of human oocytes/embryos and PGT results.
- Conditions
- Infertility, Female, Infertility, Male, Infertility, IVF
- Trial name
- NCT06419127
- Testing
- Timelapse incubation and PGT
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Gattaca Genomics
Infertility, Male Infertility
To Investigate if the Harvester® Improves Sperm Motility and Blastocyst Utilization (the Percent of Fertilized Eggs That Develop to the Point That They Are Able to be Transferred) in IVF Cycles.
The goal of this prospective, multicenter randomized controlled clinical trial is to evaluate whether the SwimCount Harvester microfluidic sperm preparation device can achieve equivalent or superior clinical outcomes compared to…
- Conditions
- Infertility, Male Infertility, InVitro Fertilization, Aneuploidy Rate
- Trial name
- NCT07369362
- Testing
- microfludics semen processing device
- Where
- United States
- Volunteers
- 1,600 people
- Sponsor
- MotilityCount aps
Infertility, Aneuploidy
Single Embryo TrAnsfeR of Euploid Embryo
The purpose of the current study is to evaluate the effect of preimplantation genetic screening (PGS) by next generation sequencing (NGS) compared to standard morphological assessment of embryos on pregnancy rates through a…
- Trial name
- STAR (NCT02268786)
- Testing
- Preimplantation Genetic Screening by NGS
- Where
- 38 sites in United States, Australia and 2 more
- Volunteers
- 661 people
- Sponsor
- Illumina, Inc.
Pregnancy, Aneuploidy
Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
The purpose of this study is to collect samples for the purpose of developing a prenatal aneuploid test using circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have a high-risk pregnancy…
- Conditions
- Pregnancy, Aneuploidy, Down Syndrome, Edwards Syndrome
- Trial name
- NCT00971334
- Where
- 35 sites in United States, France
- Volunteers
- 2,502 people
- Sponsor
- Sequenom, Inc.
Preimplantation Gentic Screening (PGS), In Vitro Fertilization (IVF)
Impact of Parental Support on Pregnancy Outcomes (IPSO) Trial- Day 3 Preimplantation Genetic Screening (PGS) With Day 5 Fresh Transfer
Natera is recruiting patients for a research study evaluating pregnancy and implantation rates in women undergoing In Vitro Fertilization (IVF) and Preimplantation Genetic Screening (PGS).
- Conditions
- Preimplantation Gentic Screening (PGS), In Vitro Fertilization (IVF), Preimplantation Genetic Diagnosis (PGD)
- Trial name
- IPSO (NCT01194531)
- Testing
- 24 Chromosome Aneuploidy Screening with Parental Support
- Where
- 9 sites in United States
- Volunteers
- 59 people
- Sponsor
- Natera, Inc.
Down Syndrome, Edwards Syndrome
Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02787486
- Testing
- Blood sampling for Laboratory Developed Test (LDT) analysis
- Where
- 8 sites in United States
- Volunteers
- 760 people
- Sponsor
- Progenity, Inc.
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.
Aneuploidy, NIPT
A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood
A diagnostic peripheral maternal blood test taken and the free foetal DNA is analysed and the presence of trisomies using a novel method.
- Trial name
- IONA (NCT01472523)
- Where
- United Kingdom
- Volunteers
- 1,632 people
- Sponsor
- Premaitha Health
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
Aneuploidy, Down Syndrome
Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies
Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored…
- Conditions
- Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
- Trial name
- NCT01597063
- Testing
- SEQureDx Trisomy Test
- Where
- 27 sites in United States
- Volunteers
- 3,333 people
- Sponsor
- Sequenom, Inc.
Down Syndrome, Fetal Aneuploidy
Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.
- Trial name
- NCT01429389
- Where
- 14 sites in United States, Canada
- Volunteers
- 2,000 people
- Sponsor
- Sequenom, Inc.