EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)

NCT06808880 | Recruiting

• 1 other identifier: 23-075-WH
• Study Type: observational
• Target: 4,000
• Locations: 1 country
• Sites: 18

Brief Summary

The purpose of this research is to develop and validate a single gene Non-Invasive Prenatal Test. The development of this investigational single-gene noninvasive prenatal testing (sgNIPT) for conditions such as cystic fibrosis (CF), spinal muscular atrophy (SMA), Sickle cell disease, alpha thalassemia (a-thalassemia) and beta thalassemia (b-thalassemia) could provide information about the possibility that a child will be born with a serious health condition, in some cases in the absence of reproductive partner screening. 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).

Conditions

Single Gene NIPT

Keywords

single gene NIPT

Outcome Measures

Primary Outcomes (1)

• Performance of sgNIPT assay in the detection of primary four autosomal recessive disorders

  The sgNIPT assay call, high risk or low risk; will be compared to the genetic outcome of the fetus/ fetuses Affected; or Not Affected; as determined by prenatal genetic testing, post-natal genetic testing or genetic testing performed on the newborn cheek swab sample. Sensitivity, PPV, NPV, and no call rates will be assessed.

  Following the development of the sgNIPT assay, approximately 2 years after the launch of the study

Secondary Outcomes (1)

• Performance of sgNIPT assay in the detection of single gene disorders other than the primary four

  Following the development of the primary disorder assay, approximately 2.5 years after the launch of the study

Study Arms (1)

Increased Risk for Single Gene Disorder

Device: Single-gene Noninvasive Prenatal Testing (sgNIPT)

Interventions

Single-gene Noninvasive Prenatal Testing (sgNIPT) DEVICE

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).

Increased Risk for Single Gene Disorder

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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 a concern for single-gene disorder in the fetus/ fetuses irrespective of carrier status (e.g., based on fetal ultrasound findings).

You may qualify if:

• Age 18 or older at the time of informed consent
• Maternal participant: Pregnant and blood draw at ≥ 9 weeks gestational age (GA)
• 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
• 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.
• Willing to permit release of neonatal health information and the performance of a newborn cheek swab within 6 months following delivery
• Willing to sign informed consent and comply with study procedures

You may not qualify if:

• Reproductive partner found to not be positive for the same autosomal recessive genetic disorder as the pregnant maternal carrier, or vice versa
• Surrogate gestation or egg donor pregnancy
• Negative preimplantation genetic testing for the single-gene disorder identified in one or both parents

Sponsors & Collaborators

• Natera, Inc.: lead

Study Sites (18)

Valley Perinatal

Glendale, Arizona, 85304, United States

RECRUITING

Cedars Sinai Prenatal Diagnosis Center

Los Angeles, California, 90048, United States

RECRUITING

Center for Fetal Medicine and Womens Ultrasound

Los Angeles, California, 90048, United States

RECRUITING

Natera Inc

San Carlos, California, 94070, United States

RECRUITING

University of California San Francisco

San Francisco, California, 94158, United States

RECRUITING

Orlando Health Inc. (Winnie Palmer Hsopital)

Orlando, Florida, 32806, United States

RECRUITING

UMMC WH Univerity Center For Fetal Medicine

Jackson, Mississippi, 39216, United States

RECRUITING

Capital Health

Lawrenceville, New Jersey, 08648, United States

RECRUITING

Rutgers Robert Wood Johnson Medical School

New Brunswick, New Jersey, 08901, United States

RECRUITING

NYU Langone Hospital

Garden City, New York, 11530, United States

RECRUITING

Northwell (Northshore/LIJ)

New Hyde Park, New York, 11040, United States

RECRUITING

NYU Langone

New York, New York, 10022, United States

RECRUITING

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

RECRUITING

Weill Medical College of Cornell University

New York, New York, 10065, United States

RECRUITING

University of Rochester

Rochester, New York, 14642, United States

RECRUITING

Austin Maternal Fetal Medicine/St. Davids Healthcare

Austin, Texas, 78758, United States

RECRUITING

University of Texas Medical Branch (UTMB)

Galveston, Texas, 77555, United States

RECRUITING

PEDIATRIX Medical Services, Inc. Master + Houston

Stafford, Texas, 77477, United States

RECRUITING

Related Links

• Page for potential participants to learn about the study and express interest in participating

Biospecimen

Retention: SAMPLES WITH DNA

A whole blood sample will be collected from the pregnant participant. If prenatal diagnostic testing results or clinical testing results are not available or are uninformative for the single-gene disorder of interest, a newborn cheek swab will be collected.

Central Study Contacts

Jeffrey Meltzer

CONTACT

844-778-4700; expandclinops@natera.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 21, 2025
• First Posted: February 5, 2025
• Study Start: January 25, 2024
• Primary Completion (Estimated): April 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: May 4, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (18)