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Developing a noninvasive prenatal test for single gene disorders

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

Observational Natera, Inc. · NCT06808880

This study is testing a new blood test for pregnant women to see if it can safely check for serious genetic disorders in their babies, especially for those at higher risk.

Quick facts

Study typeObservational
Enrollment4000 (estimated)
Ages18 Years and up
SexAll
SponsorNatera, Inc. Industry-sponsored
Locations18 sites (Glendale, Arizona and 17 other locations)
Trial IDNCT06808880 on ClinicalTrials.gov

What this trial studies

This research aims to develop and validate a single gene non-invasive prenatal test (sgNIPT) for conditions such as cystic fibrosis, spinal muscular atrophy, and various thalassemias. The study will collect blood samples and medical information from pregnant women at higher risk for these disorders, including those who are carriers or affected themselves. Investigators will also gather genetic testing results or cheek swab samples from newborns to enhance the accuracy of the test. The goal is to provide critical information about the risk of serious health conditions in fetuses, especially when partner screening is not available.

Who should consider this trial

Good fit: Ideal candidates include pregnant women aged 18 or older who are at increased risk for single gene disorders based on their medical history or ultrasound findings.

Not a fit: Patients who are not pregnant or those without a known risk for single gene disorders may not benefit from this study.

Why it matters

Potential benefit: If successful, this test could significantly improve prenatal screening for serious genetic conditions, allowing for better-informed decisions for expectant parents.

How similar studies have performed: Other studies have shown promise in developing non-invasive prenatal testing approaches, but this specific application for single gene disorders is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria 
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

Where this trial is running

Glendale, Arizona and 17 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Single Gene NIPTsingle gene NIPT
Last reviewed 2026-06-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.