EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)
NCT ID: NCT06808880
Last Updated: 2025-10-10
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
4000 participants
OBSERVATIONAL
2024-01-25
2026-02-28
Brief Summary
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In order to develop a test for this purpose, investigators will collect blood samples and medical information from pregnant women who have pregnancies at higher risk for single gene disorders, such as those who are carriers for these conditions or affected by these conditions themselves, medical data from their reproductive partners in some cases, and either genetic testing results or a cheek swab sample from the newborn(s).
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Detailed Description
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CF (CFTR) SMA (SMN1) Alpha-thalassemia (HBA1/HBA2) Beta-hemoglobinopathies including sickle cell disease (HBB)
Conditions
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Study Design
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CASE_ONLY
PROSPECTIVE
Study Groups
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Increased Risk for Single Gene Disorder
Single-gene Noninvasive Prenatal Testing (sgNIPT)
Natera sgNIPT is intended for use in pregnant people whose 'fetus/ fetuses are identified as at increased risk for a single gene disorder when there is no reproductive partner (paternal) screening available or when there is positive reproductive partner screening, but prenatal diagnostic testing is not an option or when there is concern for a single-gene disorder in the fetus/ fetuses irrespective of carrier status (e.g., based on fetal ultrasound findings).
Interventions
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Single-gene Noninvasive Prenatal Testing (sgNIPT)
Natera sgNIPT is intended for use in pregnant people whose 'fetus/ fetuses are identified as at increased risk for a single gene disorder when there is no reproductive partner (paternal) screening available or when there is positive reproductive partner screening, but prenatal diagnostic testing is not an option or when there is concern for a single-gene disorder in the fetus/ fetuses irrespective of carrier status (e.g., based on fetal ultrasound findings).
Eligibility Criteria
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Inclusion Criteria
2. Maternal participant: Pregnant and blood draw at ≥ 9 weeks gestational age (GA)
3. Maternal participant is positive for a single-gene disorder and/or there are prenatal ultrasound findings suggestive for a fetal single-gene disorder, including but not limited to the genes listed in the primary and secondary objectives
4. Meet the criteria for one of the following:
* Both maternal and reproductive partner (paternal) status are positive for the same single-gene disorder OR
* A commercially available single-gene NIPT has been performed as part of clinical care and is reported as increased risk for an affected fetus/fetuses OR Maternal status is positive for one or more single-gene disorders and reproductive partner status is unknown OR
* Prenatal ultrasound findings are suggestive of a fetal single-gene disorder (autosomal dominant, autosomal recessive, or X-linked condition) and enrollment is approved by the medical monitor.
5. Willing to permit release of neonatal health information and the performance of a newborn cheek swab within 6 months following delivery
6. Willing to sign informed consent and comply with study procedures
Exclusion Criteria
2. Surrogate gestation or egg donor pregnancy
3. Negative preimplantation genetic testing for the single-gene disorder identified in one or both parents
18 Years
ALL
No
Sponsors
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Natera, Inc.
INDUSTRY
Responsible Party
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Locations
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Valley Perinatal
Glendale, Arizona, United States
Cedars Sinai Prenatal Diagnosis Center
Los Angeles, California, United States
Center for Fetal Medicine and Womens Ultrasound
Los Angeles, California, United States
Natera Inc
San Carlos, California, United States
University of California San Francisco
San Francisco, California, United States
Orlando Health Inc. (Winnie Palmer Hsopital)
Orlando, Florida, United States
UMMC WH Univerity Center For Fetal Medicine
Jackson, Mississippi, United States
Capital Health
Lawrenceville, New Jersey, United States
Rutgers Robert Wood Johnson Medical School
New Brunswick, New Jersey, United States
NYU Langone Hospital
Garden City, New York, United States
Northwell (Northshore/LIJ)
New Hyde Park, New York, United States
NYU Langone
New York, New York, United States
Icahn School of Medicine at Mount Sinai
New York, New York, United States
Weill Medical College of Cornell University
New York, New York, United States
University of Rochester
Rochester, New York, United States
Austin Maternal Fetal Medicine/St. Davids Healthcare
Austin, Texas, United States
University of Texas Medical Branch (UTMB)
Galveston, Texas, United States
PEDIATRIX Medical Services, Inc. Master + Houston
Stafford, Texas, United States
Countries
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Central Contacts
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Facility Contacts
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Related Links
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Page for potential participants to learn about the study and express interest in participating
Other Identifiers
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23-075-WH
Identifier Type: -
Identifier Source: org_study_id
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