NCT02787486

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 760 (actual)
• Sponsor: Progenity, Inc. · Industry
• Sex: Female
• Age: 18 Years – 54 Years
• Healthy volunteers: Not accepted

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.

Detailed description

Eligible subjects will provide written informed consent after which basic demographic and clinical data will be collected. Study procedures involve the collection of 50 mL of whole blood at one or more monthly clinic visits (≥25 days apart) from pregnant women (18 to 54 yrs of age) carrying a single fetus of 8 to 22 weeks of gestational age inclusive.

Conditions

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

Interventions

Type	Name	Description
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

Timeline

• Start date: 2015-10-01
• Primary completion: 2018-09-01
• Completion: 2018-09-01
• First posted: 2016-06-01
• Last updated: 2019-08-21

Locations

8 sites across 1 country: United States