Developing a noninvasive prenatal test for single gene disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This research aims to develop and validate a single gene non-invasive prenatal test (sgNIPT) for conditions such as cystic fibrosis, spinal muscular atrophy, and various thalassemias. The study will collect blood samples and medical information from pregnant women at higher risk for these disorders, including those who are carriers or affected themselves. Investigators will also gather genetic testing results or cheek swab samples from newborns to enhance the accuracy of the test. The goal is to provide critical information about the risk of serious health conditions in fetuses, especially when partner screening is not available.

Why it matters

Who can join: the full rules

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

Where it's running

• Valley Perinatal
  Glendale, Arizona, United States Recruiting
• Cedars Sinai Prenatal Diagnosis Center
  Los Angeles, California, United States Recruiting
• Center for Fetal Medicine and Womens Ultrasound
  Los Angeles, California, United States Recruiting
• Natera Inc
  San Carlos, California, United States Recruiting
• University of California San Francisco
  San Francisco, California, United States Recruiting
• Orlando Health Inc. (Winnie Palmer Hsopital)
  Orlando, Florida, United States Recruiting

Study contacts

• Study coordinator: Jeffrey Meltzer
• Email: expandclinops@natera.com
• Phone: 844-778-4700

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.