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

May 1, 2026 updated by: Natera, Inc.

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).

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

4000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Arizona
    • California
      • Los Angeles, California, United States, 90048
        • Recruiting
        • Cedars Sinai Prenatal Diagnosis Center
        • Contact:
      • Los Angeles, California, United States, 90048
        • Recruiting
        • Center for Fetal Medicine and Womens Ultrasound
        • Contact:
      • San Carlos, California, United States, 94070
        • Recruiting
        • Natera Inc
        • Contact:
      • San Francisco, California, United States, 94158
        • Recruiting
        • University of California San Francisco
        • Contact:
    • Florida
      • Orlando, Florida, United States, 32806
    • Mississippi
      • Jackson, Mississippi, United States, 39216
        • Recruiting
        • UMMC WH Univerity Center For Fetal Medicine
        • Contact:
    • New Jersey
      • Lawrenceville, New Jersey, United States, 08648
      • New Brunswick, New Jersey, United States, 08901
        • Recruiting
        • Rutgers Robert Wood Johnson Medical School
        • Contact:
    • New York
      • Garden City, New York, United States, 11530
      • New Hyde Park, New York, United States, 11040
        • Recruiting
        • Northwell (Northshore/LIJ)
        • Contact:
      • New York, New York, United States, 10029
        • Recruiting
        • Icahn School Of Medicine At Mount Sinai
        • Contact:
      • New York, New York, United States, 10065
        • Recruiting
        • Weill Medical College of Cornell University
        • Contact:
      • New York, New York, United States, 10022
      • Rochester, New York, United States, 14642
    • Texas
      • Austin, Texas, United States, 78758
      • Galveston, Texas, United States, 77555
        • Recruiting
        • University of Texas Medical Branch (UTMB)
        • Contact:
      • Stafford, Texas, United States, 77477

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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).

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Increased Risk for Single Gene Disorder
Device: 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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Following the development of the sgNIPT assay, approximately 2 years after the launch of the study

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
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
Following the development of the primary disorder assay, approximately 2.5 years after the launch of the study

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Natera, Inc.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 25, 2024

Primary Completion (Estimated)

April 1, 2027

Study Completion (Estimated)

December 1, 2027

Study Registration Dates

First Submitted

January 21, 2025

First Submitted That Met QC Criteria

January 29, 2025

First Posted (Actual)

February 5, 2025

Study Record Updates

Last Update Posted (Actual)

May 4, 2026

Last Update Submitted That Met QC Criteria

May 1, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • 23-075-WH

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

This study is for the development of a proprietary product, therefore the individual data will not be shared.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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