Last updated on June 2019

Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Sex Chromosome Abnormalities | Trisomy 18 | Down Syndrome | Microdeletion Syndromes | Trisomy 13
  • Age: Between 18 - 100 Years
  • Gender: Male or Female

Inclusion Criteria:

  • Age 18 or older at enrollment
  • Gestation age of at least 9 weeks, 0 days by best obstetrical estimate
  • One or more fetuses with a clinically confirmed diagnosis of a genetic variant of interest via karyotype, FISH, chromosomal microarray or other genetic assay AND/OR
  • One or more fetuses with any variant of fetal structure that is expected to require medical or surgical intervention in the newborn period, shorten lifespan, affect intellectual development or otherwise indicate a genetic anomaly AND/OR
  • Positive high risk noninvasive prenatal screening or serum screening result
  • Able to provide informed consent

Exclusion Criteria:

Maternal history of bone marrow or organ transplantation

Recruitment Status: Open

Brief Description Eligibility Contact Research Team

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