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

Conditions

• Single Gene NIPT

Eligibility Criteria

Sex

ALL

Age

18 Years - N/A

Healthy Volunteers

Not accepted

Interventions

• 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 Details

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).

Key Dates

Start date

Jan 25, 2024

Status verified

Apr 2026

Primary completion

Apr 30, 2027

Completion

Dec 31, 2027

Study Design

Enrollment

4,000 participants (estimated)

Arms

• Arm: Increased Risk for Single Gene Disorder

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 ]

Central Contacts

• Jeffrey Meltzer
  844-778-4700
  [email protected]

Locations (18)

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