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

NCT06808880 · tracked via the Priya Life Science USA tracker

Sponsor

Natera, Inc.

Phase

Observational

Started

2024-01-25

Last updated

2026-05-04

Condition(s) studied

Single Gene NIPT

Investigational drug(s) / intervention(s)

Single-gene Noninvasive Prenatal Testing (sgNIPT)

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).

Study 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).

Eligibility

Sex

ALL

Min age

18 Years

Max age

—

Healthy volunteers

Inclusion Criteria: 1. Age 18 or older at the time of informed consent 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: 1. Reproductive partner found to not be positive for the same autosomal recessive genetic disorder as the pregnant maternal carrier, or vice versa 2. Surrogate gestation or egg donor pregnancy 3. Negative preimplantation genetic testing for the single-gene disorder identified in one or both parents

Primary outcome measure(s)

Performance of sgNIPT assay in the detection of primary four autosomal recessive disorders — Following the development of the sgNIPT assay, approximately 2 years after the launch of the study
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.

Trial sites (18)

Facility	City	Region	Status
Valley Perinatal	Glendale	Arizona	Recruiting
Cedars Sinai Prenatal Diagnosis Center	Los Angeles	California	Recruiting
Center for Fetal Medicine and Womens Ultrasound	Los Angeles	California	Recruiting
Natera Inc	San Carlos	California	Recruiting
University of California San Francisco	San Francisco	California	Recruiting
Orlando Health Inc. (Winnie Palmer Hsopital)	Orlando	Florida	Recruiting
UMMC WH Univerity Center For Fetal Medicine	Jackson	Mississippi	Recruiting
Capital Health	Lawrenceville	New Jersey	Recruiting
Rutgers Robert Wood Johnson Medical School	New Brunswick	New Jersey	Recruiting
NYU Langone Hospital	Garden City	New York	Recruiting
Northwell (Northshore/LIJ)	New Hyde Park	New York	Recruiting
NYU Langone	New York	New York	Recruiting
Icahn School of Medicine at Mount Sinai	New York	New York	Recruiting
Weill Medical College of Cornell University	New York	New York	Recruiting
University of Rochester	Rochester	New York	Recruiting
Austin Maternal Fetal Medicine/St. Davids Healthcare	Austin	Texas	Recruiting
University of Texas Medical Branch (UTMB)	Galveston	Texas	Recruiting
PEDIATRIX Medical Services, Inc. Master + Houston	Stafford	Texas	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06808880 on ClinicalTrials.gov ↗ ← All trials in the USA