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

Description

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

Single Gene NIPT

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Study Overview

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Study Details

Study overview

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).

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

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

Condition
Single Gene NIPT
Intervention / Treatment

-

Contacts and Locations

Birmingham

University of Alabama Birmingham, Birmingham, Alabama, United States, 35233

Glendale

Valley Perinatal, Glendale, Arizona, United States, 85304

Los Angeles

Cedars Sinai Prenatal Diagnosis Center, Los Angeles, California, United States, 90048

Los Angeles

Center for Fetal Medicine and Womens Ultrasound, Los Angeles, California, United States, 90048

Los Angeles

UCLA Department of Obstetrics and Gynecology, Los Angeles, California, United States, 90095

Sacramento

Pediatrix -Perinatal Associates of Sacramento, Sacramento, California, United States, 95816

San Carlos

Natera Inc, San Carlos, California, United States, 94070

San Francisco

University of California San Francisco, San Francisco, California, United States, 94158

Orlando

Orlando Health Inc. (Winnie Palmer Hsopital), Orlando, Florida, United States, 32806

Rockville

Maternal Fetal Medicine Associates of Maryland, Rockville, Maryland, United States, 20850

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • 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

Ages Eligible for Study

18 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Natera, Inc.,

Study Record Dates

2026-02