Single Gene NIPTEXPANDNCT06808880
EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)
An observational study of Single Gene NIPT, run by Natera, Inc. at 18 sites in United States.
Trial 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)… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Single Gene NIPT
- What is being tested?
- Single-gene Noninvasive Prenatal Testing (sgNIPT)
- Type of treatment
- Medical device
- How many people
- 4,000 participants
- Where
- 18 sitesUnited States
- Study dates
- 25 Jan 2024to Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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).
Who may be able to join
- 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
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- 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
Who cannot join
- 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
Trial locations and contacts
18 sites in 1 country. Contact the study team or a site near you to ask about taking part.
18 sites in 1 country
United States18 sites, 18 recruiting
- Recruiting
Austin Maternal Fetal Medicine/St. Davids Healthcare
Austin, Texas, 78758
Mollie McDonnold, 512-493-6923, Mollie.McDonnold@hcahealthcare.com
- Recruiting
University of Texas Medical Branch (UTMB)
Galveston, Texas, 77555
Luis Pacheco, 409-772-0312, ldpachec@utmb.edu
- Recruiting
NYU Langone Hospital
Garden City, New York, 11530
Martin Chavez, 516-663-8654, martin.chavez@nyulangone.org
- Recruiting
Valley Perinatal
Glendale, Arizona, 85304
Ravindu Gunatilake, ravindu.gunatilake@valleyperinatal.com
- Recruiting
UMMC WH Univerity Center For Fetal Medicine
Jackson, Mississippi, 39216
Laura Hendon, 601-815-4487, lhendon@umc.edu
- Recruiting
Capital Health
Lawrenceville, New Jersey, 08648
Thomas Westover, 609-537-7252, twestover@capitalhealth.org
- Recruiting
Cedars Sinai Prenatal Diagnosis Center
Los Angeles, California, 90048
John Williams, 310-423-5717, John.Williamslll@cshs.org
- Recruiting
Center for Fetal Medicine and Womens Ultrasound
Los Angeles, California, 90048
Lawrence Platt, 323-857-1952, ldplatt@gmail.com
- Recruiting
Rutgers Robert Wood Johnson Medical School
New Brunswick, New Jersey, 08901
Todd Rosen, 732-235-8006, rosentj@rwjms.rutgers.edu
- Recruiting
Northwell (Northshore/LIJ)
New Hyde Park, New York, 11040
Rajeevi Madankumar, (718) 470-7794, rajeevimd@gmail.com
- Recruiting
NYU Langone
New York, New York, 10022
Ashley Roman, Ashley.Roman@nyulangone.org
- Recruiting
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Angela Bianco, 212-241-5681, angela.bianco@mssm.edu
- Recruiting
Weill Medical College of Cornell University
New York, New York, 10065
Jessica Scholl, 212.746.3489, jes9188@med.cornell.edu
- Recruiting
Orlando Health Inc. (Winnie Palmer Hsopital)
Orlando, Florida, 32806
Cole Greves, (321) 8431418, Cole.Greves@orlandohealth.com
- Recruiting
University of Rochester
Rochester, New York, 14642
Niel Seligman, Neil_Seligman@urmc.rochester.edu
- Recruiting
Natera Inc
San Carlos, California, 94070
Vivienne Souter, 206-375-0234, vsouter@natera.com
- Recruiting
University of California San Francisco
San Francisco, California, 94158
Katherine Swanson, 763-226-5955, katherine.swanson@ucsf.edu
- Recruiting
PEDIATRIX Medical Services, Inc. Master + Houston
Stafford, Texas, 77477
Olaide Ashimi Balogun, 346-245-5186, olaide.ashimibalogun@pediatrix.com
About this study
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).
Read the detailed description
Natera sgNIPT is intended for use in pregnant people whose fetus/ fetuses are identified as at increased risk for a single gene disorder, such as one of the disorders below, 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). Disorders include:
CF (CFTR) SMA (SMN1) Alpha-thalassemia (HBA1/HBA2) Beta-hemoglobinopathies including sickle cell disease (HBB)
- Conditions
- Single Gene NIPT
- Being tested
- Single-gene Noninvasive Prenatal Testing (sgNIPT)
- Keywords
- single gene NIPT
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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).
| Study group | Role | What they receive |
|---|---|---|
| Increased Risk for Single Gene Disorder | Not described Receives: Device: Single-gene Noninvasive Prenatal Testing (sgNIPT) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
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 and PPV pooled across single gene disorders other than the four primary disorders
Measured: Following the development of the primary disorder assay, approximately 2.5 years after the launch of the study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Feb 2025
- Study start25 Jan 2024
- Primary completionApr 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Single Gene NIPTStudies of the same condition, open and under way.
- More trials run by Natera, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 4,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Natera, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06808880
- Sponsor's protocol ID
- 23-075-WH
- Acronym
- EXPAND
- Status last verified
- Apr 2026
- First submitted
- 21 Jan 2025
- Last updated
- 4 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: This study is for the development of a proprietary product, therefore the individual data will not be shared.
Study at a glance
From the registry record, last updated by the sponsor on 4 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)
- ClinicalTrials.gov ID
- NCT06808880
- Acronym / sponsor ID
- EXPAND / 23-075-WH
- Conditions
- Single Gene NIPT
- Keywords
- single gene NIPT
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 4,000 participants (estimated)
- Lead sponsor
- Natera, Inc.Industry (pharma, biotech, devices)
- Study start
- 25 Jan 2024 (actual)
- Primary completion
- Apr 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 5 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Detailed description
Natera sgNIPT is intended for use in pregnant people whose fetus/ fetuses are identified as at increased risk for a single gene disorder, such as one of the disorders below, 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). Disorders include:
CF (CFTR) SMA (SMN1) Alpha-thalassemia (HBA1/HBA2) Beta-hemoglobinopathies including sickle cell disease (HBB)
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Increased Risk for Single Gene Disorder | – | Device: Single-gene Noninvasive Prenatal Testing (sgNIPT) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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).
Key inclusion criteria (9 listed)
- 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:
- Willing to permit release of neonatal health information and the performance of a newborn cheek swab within 6 months following delivery
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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). | Device | Increased Risk for Single Gene Disorder |
Primary outcome
Performance of sgNIPT assay in the detection of primary four autosomal recessive disorders
Time frame: 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.
1 secondary outcome
Performance of sgNIPT assay in the detection of single gene disorders other than the primary four
Time frame: Following the development of the primary disorder assay, approximately 2.5 years after the launch of the study
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 May 2026.
- Page for potential participants to learn about the study and express interest in participatingLink provided by the sponsor.
- Individual participant dataSharing planned: No. This study is for the development of a proprietary product, therefore the individual data will not be shared.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
18 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Single Gene NIPT, run by Natera, Inc. at 18 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 18 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jeffrey Meltzer (844-778-4700, expandclinops@natera.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Performance of sgNIPT assay in the detection of primary four autosomal recessive disorders (time frame: Following the development of the sgNIPT assay, approximately 2 years after the launch of the study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 May 2026.