Actively Recruiting
EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)
Led by Natera, Inc. · Updated on 2026-05-04
4000
Participants Needed
18
Research Sites
200 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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).
CONDITIONS
Official Title
EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 18 or older at the time of informed consent
- Pregnant and blood draw at 6 9 weeks gestational age
- Maternal participant is positive for a single-gene disorder and/or prenatal ultrasound findings suggestive of a fetal single-gene disorder
- Meet one of the following: both maternal and reproductive partner positive for the same disorder; or increased risk reported by commercially available single-gene NIPT; or maternal positive and reproductive partner unknown; or prenatal ultrasound findings suggestive of a single-gene disorder with medical monitor approval
- Willing to permit release of neonatal health information and newborn cheek swab within 6 months following delivery
- Willing to sign informed consent and comply with study procedures
You will not qualify if you...
- Reproductive partner not positive for the same autosomal recessive 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
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 18 locations
1
Valley Perinatal
Glendale, Arizona, United States, 85304
Actively Recruiting
2
Cedars Sinai Prenatal Diagnosis Center
Los Angeles, California, United States, 90048
Actively Recruiting
3
Center for Fetal Medicine and Womens Ultrasound
Los Angeles, California, United States, 90048
Actively Recruiting
4
Natera Inc
San Carlos, California, United States, 94070
Actively Recruiting
5
University of California San Francisco
San Francisco, California, United States, 94158
Actively Recruiting
6
Orlando Health Inc. (Winnie Palmer Hsopital)
Orlando, Florida, United States, 32806
Actively Recruiting
7
UMMC WH Univerity Center For Fetal Medicine
Jackson, Mississippi, United States, 39216
Actively Recruiting
8
Capital Health
Lawrenceville, New Jersey, United States, 08648
Actively Recruiting
9
Rutgers Robert Wood Johnson Medical School
New Brunswick, New Jersey, United States, 08901
Actively Recruiting
10
NYU Langone Hospital
Garden City, New York, United States, 11530
Actively Recruiting
11
Northwell (Northshore/LIJ)
New Hyde Park, New York, United States, 11040
Actively Recruiting
12
NYU Langone
New York, New York, United States, 10022
Actively Recruiting
13
Icahn School of Medicine at Mount Sinai
New York, New York, United States, 10029
Actively Recruiting
14
Weill Medical College of Cornell University
New York, New York, United States, 10065
Actively Recruiting
15
University of Rochester
Rochester, New York, United States, 14642
Actively Recruiting
16
Austin Maternal Fetal Medicine/St. Davids Healthcare
Austin, Texas, United States, 78758
Actively Recruiting
17
University of Texas Medical Branch (UTMB)
Galveston, Texas, United States, 77555
Actively Recruiting
18
PEDIATRIX Medical Services, Inc. Master + Houston
Stafford, Texas, United States, 77477
Actively Recruiting
Research Team
J
Jeffrey Meltzer
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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