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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Prenatal Genetic Diagnosis Clear all
Completed Phase 2 Interventional

5-Azacytidine and Phenylbutyrate to Treat Severe Thalassemia

NCT00005934
View directory record Official record
Conditions
Beta Thalassemia
Interventions
5-Azacytidine
Drug
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
Not listed
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Jul 23, 2026, 10:59 AM EDT
Withdrawn Phase 1 Interventional

Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases

NCT01003912
View directory record Official record
Conditions
Lysosomal Storage Diseases, Inborn Errors of Metabolism
Interventions
ALD-601
Biological
Lead sponsor
Joanne Kurtzberg, MD
Other
Eligibility
18 Years and older · Female only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2017
U.S. locations
2
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 28, 2017 · Synced Jul 23, 2026, 10:59 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 Jul 23, 2026, 10:59 AM EDT
Recruiting Phase 2 Interventional

Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia

NCT04980638
View directory record Official record
Conditions
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
Interventions
ER004
Biological
Lead sponsor
EspeRare Foundation
Other
Eligibility
18 Years and older · Female only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2032
U.S. locations
2
States / cities
Los Angeles, California • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Apr 29, 2025 · Synced Jul 23, 2026, 10:59 AM EDT
Not listed Not applicable Interventional Results available

Perinatal Precision Medicine

NCT03211039
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome, Mendelian Disorders
Interventions
Genomic sequencing and molecular diagnostic results, if any.
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Up to 4 Months
Enrollment
213 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Feb 29, 2024 · Synced Jul 23, 2026, 10:59 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Non-Invasive Chromosomal Evaluation of Trisomy Study

NCT02201862
View directory record Official record
Conditions
Aneuploidy, Trisomy 21, Trisomy 18, Trisomy 13, Down Syndrome
Interventions
Not listed
Lead sponsor
Cindy Cisneros
Industry
Eligibility
18 Years to 60 Years · Female only
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
3
States / cities
San Diego, California • Oaks, Pennsylvania • Chattanooga, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 29, 2020 · Synced Jul 23, 2026, 10:59 AM EDT
Active, not recruiting Not applicable Interventional

Hydrops: Diagnosing & Redefining Outcomes With Precision Study

NCT03412760
View directory record Official record
Conditions
Hydrops Fetalis, Birth Defect, Fetal Anomaly
Interventions
Exome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 55 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Jul 23, 2026, 10:59 AM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection

NCT06239077
View directory record Official record
Conditions
Prenatal Diagnosis, Genetics
Interventions
Non Invasive Prenatal Test via blood sample
Other
Lead sponsor
Identifai Genetics
Industry
Eligibility
18 Years and older · Female only
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2025
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 1, 2024 · Synced Jul 23, 2026, 10:59 AM EDT
Recruiting Not applicable Interventional

Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening

NCT07052266
View directory record Official record
Conditions
Hereditary Cancer Syndromes
Interventions
MyRisk Hereditary Cancer Test
Genetic
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
18 Years to 55 Years · Female only
Enrollment
550 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
5
States / cities
Brooklyn, New York • New York, New York • Queens, New York
Source: ClinicalTrials.gov public record
Updated Dec 25, 2025 · Synced Jul 23, 2026, 10:59 AM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Prenatal Computer-Aided Genetics Education Module

NCT03449225
View directory record Official record
Conditions
Autosomal Recessive Disorder, Aneuploidy
Interventions
Computer-Aided Genetic Education Module
Other
Lead sponsor
Wayne State University
Other
Eligibility
18 Years and older · Female only
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
1
States / cities
Detroit, Michigan
Source: ClinicalTrials.gov public record
Updated May 1, 2019 · Synced Jul 23, 2026, 10:59 AM EDT
Recruiting Phase 1 Interventional

Study of Panobinostat (LBH589) in Patients With Sickle Cell Disease

NCT01245179
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
panobinostat
Drug
Lead sponsor
Abdullah Kutlar
Other
Eligibility
18 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2027
U.S. locations
1
States / cities
Augusta, Georgia
Source: ClinicalTrials.gov public record
Updated Jan 8, 2026 · Synced Jul 23, 2026, 10:59 AM EDT
Completed No phase listed Observational

Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops

NCT03911531
View directory record Official record
Conditions
Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate, Genetic Disorders
Interventions
Whole Exome Sequencing, Whole Genome Sequencing
Diagnostic Test
Lead sponsor
Thomas Jefferson University
Other
Eligibility
16 Years to 55 Years
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Jul 23, 2026, 10:59 AM EDT
Completed No phase listed Observational

Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly

NCT00005016
View directory record Official record
Conditions
Holoprosencephaly
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Jul 23, 2026, 10:59 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

GC-PRO Intervention

NCT06671704
View directory record Official record
Conditions
Cancer, Cardiovascular Diseases, Prenatal Condition, Reproductive Condition, Genetic Condition
Interventions
Genetic counseling months 4-15, Genetic counseling months 6-15, Genetic counseling months 8-15, Genetic counseling at months 10-15, Genetic counseling at months 12-15, Genetic counseling at months 14-15
Other
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years and older
Enrollment
1,094 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2026
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 7, 2026 · Synced Jul 23, 2026, 10:59 AM EDT
Active, not recruiting Phase 2 Interventional

A Gene Transfer Study Inducing Fetal Hemoglobin in Sickle Cell Disease (GRASP, BMT CTN 2001)

NCT05353647
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Autologous CD34+ HSC cells transduced with the lentiviral vector containing a shRNA targeting BCL11a
Biological
Lead sponsor
David Williams
Other
Eligibility
13 Years to 40 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
9
States / cities
Los Angeles, California • Oakland, California • Sacramento, California + 4 more
Source: ClinicalTrials.gov public record
Updated May 11, 2026 · Synced Jul 23, 2026, 10:59 AM EDT
Not listed No phase listed Observational

Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood

NCT00064597
View directory record Official record
Conditions
Chromosome Disorders
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
16 Years to 45 Years · Female only
Enrollment
3,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1987 – 2003
U.S. locations
5
States / cities
Chicago, Illinois • Boston, Massachusetts • Detroit, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 23, 2026, 10:59 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis

NCT01279733
View directory record Official record
Conditions
Genetic Diseases
Interventions
Microarray analysis
Genetic
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
4,450 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2011
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 21, 2012 · Synced Jul 23, 2026, 10:59 AM EDT
Terminated Phase 1 Interventional

Single-dose Pharmacokinetics of Pociredir in Participants With Sickle Cell Disease

NCT07431398
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Pociredir
Drug
Lead sponsor
Fulcrum Therapeutics
Industry
Eligibility
18 Years to 65 Years
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
6
States / cities
Miami, Florida • Orlando, Florida • Riverdale, Georgia + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 17, 2026 · Synced Jul 23, 2026, 10:59 AM EDT
Completed No phase listed Observational

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

NCT01052688
View directory record Official record
Conditions
Down Syndrome, Aneuploidy
Interventions
Maternal blood draw of 30 to 50ml
Other
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
Female only
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2021
U.S. locations
10
States / cities
Phoenix, Arizona • San Diego, California • Washington D.C., District of Columbia + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 19, 2021 · Synced Jul 23, 2026, 10:59 AM EDT
Completed Phase 1 Interventional

A Phase I/II Trial of Recombinant-Methionyl Human Stem Cell Factor (SCF) in Adult Patients With Sickling Disorders

NCT00005783
View directory record Official record
Conditions
Hemoglobin SC Disease, Sickle Cell Anemia
Interventions
Recombinant-methionyl human stem cell factor
Drug
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Jul 23, 2026, 10:59 AM EDT
Completed Phase 1 Interventional

Hydroxyurea and Erythropoietin to Treat Sickle Cell Anemia

NCT00270478
View directory record Official record
Conditions
Sickle Cell Disease, Chronic Kidney Disease, Pulmonary Hypertension
Interventions
Erythropoietin and Hydroxyurea
Drug
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 16, 2019 · Synced Jul 23, 2026, 10:59 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 Jul 23, 2026, 10:59 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Cell- Based Noninvasive Prenatal Testing (NIPT): Single Cell Prenatal Diagnosis (SCPD)

NCT05076734
View directory record Official record
Conditions
Pregnancy Related
Interventions
Redraw for analysis of blood samples from healthy pregnant women
Diagnostic Test
Lead sponsor
Luna Genetics
Industry
Eligibility
18 Years to 65 Years · Female only
Enrollment
157 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 23, 2023 · Synced Jul 23, 2026, 10:59 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial

NCT01545674
View directory record Official record
Conditions
Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
Interventions
Blood Draw
Procedure
Lead sponsor
Natera, Inc.
Industry
Eligibility
Female only
Enrollment
937 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2023
U.S. locations
24
States / cities
Birmingham, Alabama • Los Angeles, California • San Francisco, California + 16 more
Source: ClinicalTrials.gov public record
Updated Mar 22, 2023 · Synced Jul 23, 2026, 10:59 AM EDT