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Showing 1–24 of 59 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Aneuploidy Clear all
Completed No phase listed Observational

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

NCT02000167
View directory record Official record
Conditions
Phelan-McDermid Syndrome
Interventions
Not listed
Lead sponsor
University of Arkansas
Other
Eligibility
1 Year to 21 Years
Enrollment
51 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Little Rock, Arkansas
Source: ClinicalTrials.gov public record
Updated Aug 4, 2021 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational

Development of a Prenatal Test for Fetal Aneuploidy Detection

NCT01451671
View directory record Official record
Conditions
Fetal Complications
Interventions
Not listed
Lead sponsor
Cindy Cisneros
Industry
Eligibility
18 Years and older · Female only
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2019
U.S. locations
3
States / cities
San Diego, California • Louisville, Kentucky • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 29, 2020 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational

Non-Invasive Screening for Fetal Aneuploidy

NCT00847990
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome
Interventions
Maternal blood screening test for fetal aneuploidy
Other
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
25
States / cities
Mesa, Arizona • Phoenix, Arizona • Tucson, Arizona + 18 more
Source: ClinicalTrials.gov public record
Updated Sep 4, 2011 · Synced Sep 8, 2026, 6:13 AM EDT
Completed Phase 1 Interventional

Treatment Strategies for Children With Smith-Magenis Syndrome

NCT00506259
View directory record Official record
Conditions
Developmental Delay Disorders, Chromosome Deletion, Mental Retardation, Sleep Disorders, Circadian Rhythm, Self Injurious Behavior
Interventions
dTR Melatonin (NIH CC PDS), Phototherapy (Bright Light), Melatonin CR
Drug · Device
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
3 Years to 45 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2018
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 11, 2019 · Synced Sep 8, 2026, 6:13 AM EDT
Completed Phase 4 Interventional

TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

NCT03325647
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution, Placebo injectable saline
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
31 Days to 90 Days · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated May 5, 2022 · Synced Sep 8, 2026, 6:13 AM EDT
Terminated No phase listed Observational

Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies

NCT02226315
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Sep 16, 2015 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational

Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

NCT01555346
View directory record Official record
Conditions
Down Syndrome, Fetal Aneuploidy
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years to 60 Years · Female only
Enrollment
3,062 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
27
States / cities
Mobile, Alabama • Tucson, Arizona • Campbell, California + 24 more
Source: ClinicalTrials.gov public record
Updated Apr 19, 2016 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational

Investigation of the Impact of Noninvasive Prenatal Testing for Fetal Aneuploidy on Utilization of Prenatal Diagnostic Procedures and Pregnant Women's Views

NCT01708746
View directory record Official record
Conditions
High Risk Pregnancy
Interventions
Not listed
Lead sponsor
Verinata Health, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
4
States / cities
Baldwin Park, California • Los Angeles, California • Panorama City, California + 1 more
Source: ClinicalTrials.gov public record
Updated Sep 25, 2014 · Synced Sep 8, 2026, 6:13 AM EDT
Recruiting No phase listed Observational

Specimen Collection from Pregnant Women At Increased Risk for Fetal Aneuploidy

NCT01429389
View directory record Official record
Conditions
Down Syndrome, Fetal Aneuploidy
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2026
U.S. locations
12
States / cities
Birmingham, Alabama • Los Angeles, California • San Diego, California + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 15, 2024 · Synced Sep 8, 2026, 6:13 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Media, Morphokinetics, and Mosaicism

NCT03503877
View directory record Official record
Conditions
Embryonic Mosaicism, Embryo Culture Media, Embryo Morphokinetics, Infertility
Interventions
EmbryoScope Plus, GLOBAL MEDIA, SAGE MEDIA
Device · Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 42 Years · Female only
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Dec 13, 2022 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational

A New Prenatal Blood Test for Down Syndrome

NCT00877292
View directory record Official record
Conditions
Down Syndrome, Trisomy 21
Interventions
Not listed
Lead sponsor
Women and Infants Hospital of Rhode Island
Other
Eligibility
18 Years and older · Female only
Enrollment
4,664 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
12
States / cities
Birmingham, Alabama • Los Angeles, California • New Haven, Connecticut + 8 more
Source: ClinicalTrials.gov public record
Updated Jun 2, 2015 · Synced Sep 8, 2026, 6:13 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Pregnancy and Developmental Outcomes After Transfer of Reportedly Aneuploid or Mosaic Embryos

NCT04109846
View directory record Official record
Conditions
Aneuploidy, Mosaicism, Pregnancy Outcome
Interventions
Non-euploid embryo transfer, Euploid Transfer
Other
Lead sponsor
Stanford University
Other
Eligibility
18 Years to 55 Years · Female only
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2039
U.S. locations
1
States / cities
Sunnyvale, California
Source: ClinicalTrials.gov public record
Updated Apr 23, 2026 · Synced Sep 8, 2026, 6:13 AM EDT
Completed Not applicable Interventional

Next Generation Sequencing Screening for Embryonic Ploidy Status

NCT02032264
View directory record Official record
Conditions
Infertility
Interventions
Comprehensive Chromosome Screening, Morphologically Best
Other
Lead sponsor
Reproductive Medicine Associates of New Jersey
Other
Eligibility
18 Years to 42 Years · Female only
Enrollment
309 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Basking Ridge, New Jersey
Source: ClinicalTrials.gov public record
Updated Mar 16, 2017 · Synced Sep 8, 2026, 6:13 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Use of Videos to Improve Patient Knowledge on Prenatal Genetics

NCT03816423
View directory record Official record
Conditions
Aneuploidy, Birth Defect
Interventions
video
Other
Lead sponsor
University of South Florida
Other
Eligibility
18 Years and older · Female only
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated May 18, 2020 · Synced Sep 8, 2026, 6:13 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Screening of Low Responders for Aneuploidy to Improve Reproductive Efficiency

NCT01977144
View directory record Official record
Conditions
Infertility
Interventions
Comprehensive Chromosomal Screening
Other
Lead sponsor
Reproductive Medicine Associates of New Jersey
Other
Eligibility
18 Years to 43 Years · Female only
Enrollment
206 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2020
U.S. locations
1
States / cities
Basking Ridge, New Jersey
Source: ClinicalTrials.gov public record
Updated Jan 13, 2022 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

NCT02787486
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
Interventions
Blood sampling for Laboratory Developed Test (LDT) analysis
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years to 54 Years · Female only
Enrollment
760 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
8
States / cities
Scottsdale, Arizona • Eunice, Louisiana • Brooklyn, New York + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 20, 2019 · Synced Sep 8, 2026, 6:13 AM EDT
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

GEM: Impact of a Video Education Tool on Decisional Conflict Among Prenatal Patients

NCT06771453
View directory record Official record
Conditions
Aneuploidy, Genetic Counseling, Informed Consent, Decisional Conflict
Interventions
Video Educational Tool Regarding Prenatal Genetics
Other
Lead sponsor
Women and Infants Hospital of Rhode Island
Other
Eligibility
18 Years and older
Enrollment
140 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2026
U.S. locations
1
States / cities
Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Sep 17, 2025 · Synced Sep 8, 2026, 6:13 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)

NCT01023048
View directory record Official record
Conditions
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
Interventions
preimplantation diagnosis
Other
Lead sponsor
Natera, Inc.
Industry
Eligibility
Up to 40 Years
Enrollment
56 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2014
U.S. locations
1
States / cities
Redwood City, California
Source: ClinicalTrials.gov public record
Updated Apr 1, 2014 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational

Multi-center Study to Validate niPGT-A

NCT03520933
View directory record Official record
Conditions
Aneuploidy, Chromosome Abnormality, Infertility
Interventions
PGT-A, niPGT-A
Diagnostic Test
Lead sponsor
Igenomix
Industry
Eligibility
20 Years to 44 Years · Female only
Enrollment
2,586 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
3
States / cities
San Diego, California • Boston, Massachusetts • Arlington, Washington
Source: ClinicalTrials.gov public record
Updated May 23, 2023 · Synced Sep 8, 2026, 6:13 AM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters

NCT00006445
View directory record Official record
Conditions
Down Syndrome, Chromosome Abnormalities
Interventions
Ultrasound, Serum screen
Procedure
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
16 Years to 45 Years · Female only
Enrollment
38,000 participants
Healthy volunteers
Accepts healthy volunteers
U.S. locations
10
States / cities
Denver, Colorado • Boston, Massachusetts • Royal Oak, Michigan + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 21, 2007 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational

Cardiometabolic Profiles of Boys With Klinefelter Syndrome

NCT02723305
View directory record Official record
Conditions
Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
Interventions
No intervention
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
12 Years to 17 Years · Male only
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Mar 7, 2022 · Synced Sep 8, 2026, 6:13 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Preimplantation Genetic Testing for Aneuploidy Counseling

NCT06018454
View directory record Official record
Conditions
Patient Education
Interventions
Handout on PGT-A, Handout on PGT-A and genetic counseling
Other
Lead sponsor
Eyup Hakan Duran
Other
Eligibility
18 Years to 45 Years
Enrollment
213 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2024
U.S. locations
1
States / cities
Iowa City, Iowa
Source: ClinicalTrials.gov public record
Updated Dec 23, 2024 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Non-invasive Prenatal Diagnostic Validation Study

NCT01574781
View directory record Official record
Conditions
Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy, Sex Chromosome Aberrations, Other Microdeletions
Interventions
Blood draw, Cheek swab/Saliva Sampling
Procedure
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
1,781 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2013
U.S. locations
1
States / cities
Redwood City, California
Source: ClinicalTrials.gov public record
Updated Jul 1, 2013 · Synced Sep 8, 2026, 6:13 AM EDT
Completed No phase listed Observational

Comparison of Aneuploidy Risk Evaluations

NCT01663350
View directory record Official record
Conditions
Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome, Turners Syndrome
Interventions
Not listed
Lead sponsor
Verinata Health, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
26
States / cities
San Diego, California • Atlanta, Georgia • Chicago, Illinois + 22 more
Source: ClinicalTrials.gov public record
Updated Jul 15, 2013 · Synced Sep 8, 2026, 6:13 AM EDT