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Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

NCT02787486 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 760

Last updated 2019-08-21

No results posted yet for this study

Summary

In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal abnormalities including biochemical screening tests and invasive procedures such as CVS or amniocentesis is available, regardless of age. Further, it is entirely up to the patient to decide whether or not she wishes to be screened for fetal chromosomal abnormalities without judgment from the physician.

Noninvasive laboratory-developed tests (LDTs) that detect an abnormal amount of maternal and fetal DNA in an expectant mother's blood sample (known as circulating cell-free DNA) are now available. These LDTs have not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although LDTs to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test.

To sample collection study will obtain whole blood specimens from pregnant subjects to be used for development of prenatal assays to assist in the screening for fetal genetic abnormalities, infectious and other diseases, and blood group typing through detection of circulating cell-free DNA extracted from maternal plasma.

Conditions

  • Down Syndrome
  • Edwards Syndrome
  • Patau Syndrome
  • Klinefelter Syndrome
  • Turner Syndrome
  • DiGeorge Syndrome
  • Chromosome Deletion
  • Aneuploidy

Interventions

OTHER

Blood sampling for Laboratory Developed Test (LDT) analysis

Each enrolled subject, either in the first or second trimester, will donate up to 50 mL (just over 3 tablespoons) of whole blood for development of the LDT

Sponsors & Collaborators

  • Progenity, Inc.

    lead INDUSTRY

Principal Investigators

  • Peter Stiegler, PhD · Head of Clinical Affairs

Eligibility

Min Age
18 Years
Max Age
54 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-10-31
Primary Completion
2018-09-30
Completion
2018-09-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02787486 on ClinicalTrials.gov