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New blood test could spot genetic diseases before birth

NCT ID NCT06808880

Diagnosis Sponsor: Natera, Inc. Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is working on a new blood test for pregnant women that can check for serious genetic conditions like cystic fibrosis, spinal muscular atrophy, and sickle cell disease. Researchers will collect blood samples from 4,000 pregnant women who are at higher risk of passing on these disorders. The goal is to see if the test can accurately tell if the baby is affected, which could help families prepare and make informed decisions.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 4,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jan 2024

Expected to finish

Dec 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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).

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

alpha thalassemia spectrum beta thalassemia cystic fibrosis sickle cell disease spinal muscular atrophy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Single gene nipt

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    18 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Austin Maternal Fetal Medicine/St. Davids Healthcare

    RECRUITING

    Austin, Texas, 78758, United States

  • Capital Health

    RECRUITING

    Lawrenceville, New Jersey, 08648, United States

  • Cedars Sinai Prenatal Diagnosis Center

    RECRUITING

    Los Angeles, California, 90048, United States

  • Center for Fetal Medicine and Womens Ultrasound

    RECRUITING

    Los Angeles, California, 90048, United States

  • Icahn School of Medicine at Mount Sinai

    RECRUITING

    New York, New York, 10029, United States

  • NYU Langone

    RECRUITING

    New York, New York, 10022, United States

  • NYU Langone Hospital

    RECRUITING

    Garden City, New York, 11530, United States

  • Natera Inc

    RECRUITING

    San Carlos, California, 94070, United States

  • Northwell (Northshore/LIJ)

    RECRUITING

    New Hyde Park, New York, 11040, United States

  • Orlando Health Inc. (Winnie Palmer Hsopital)

    RECRUITING

    Orlando, Florida, 32806, United States

  • PEDIATRIX Medical Services, Inc. Master + Houston

    RECRUITING

    Stafford, Texas, 77477, United States

  • Rutgers Robert Wood Johnson Medical School

    RECRUITING

    New Brunswick, New Jersey, 08901, United States

  • UMMC WH Univerity Center For Fetal Medicine

    RECRUITING

    Jackson, Mississippi, 39216, United States

  • University of California San Francisco

    RECRUITING

    San Francisco, California, 94158, United States

  • University of Rochester

    RECRUITING

    Rochester, New York, 14642, United States

  • University of Texas Medical Branch (UTMB)

    RECRUITING

    Galveston, Texas, 77555, United States

  • Valley Perinatal

    RECRUITING

    Glendale, Arizona, 85304, United States

  • Weill Medical College of Cornell University

    RECRUITING

    New York, New York, 10065, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.