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

Launched by NATERA, INC. · Jan 29, 2025

Keywords

ClinConnect Summary

The EXPAND trial is studying a new type of blood test called a single gene Non-Invasive Prenatal Test (sgNIPT). This test aims to help determine if a baby might be at risk for certain serious genetic conditions, such as cystic fibrosis and sickle cell disease. The goal is to improve how we can identify these risks early in pregnancy, especially for women who may already be carriers of these conditions or have had concerning ultrasound findings. Researchers will collect blood samples and medical information from pregnant women, and in some cases, from their partners and newborns, to develop and validate this test.

To join the study, participants need to be at least 18 years old and pregnant, with a blood draw happening after 9 weeks of pregnancy. They should either be known carriers of a single-gene disorder, have a partner who is also a carrier, or have had concerning ultrasound results. Participants will need to agree to share their newborn's health information and undergo a simple cheek swab test after the baby is born. This trial is currently recruiting participants and is open to anyone who meets the eligibility criteria, regardless of gender.

Gender

ALL

Eligibility 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