Recruiting

NCT Number: NCT06808880

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

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).

Recruiting

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Key information

Conditions

Single Gene NIPT

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Valley Perinatal, Glendale, Arizona, United States

About this study

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)

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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
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

Exclusion criteria

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

Treatment and study plan

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).

Primary outcomes

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.

Secondary outcomes

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

Study contacts

Contact information is provided by the study sponsor or research team.

Jeffrey Meltzer

CONTACT

[email protected]

844-778-4700

Sponsors and collaborators

Lead sponsor

Natera, Inc.

Industry

Registry information

Acronym: EXPAND

Important dates

Study start: 2024
Primary completion: 2027
Study completion: 2027
First posted: Feb 5, 2025
Registry last updated: May 4, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.