Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

NCT ID: NCT02787486

Last Updated: 2019-08-21

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 760 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-10-31
• Study Completion Date: 2018-09-30

Brief 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

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: PROSPECTIVE

Study Groups

Aneuploidy Arm

Includes pregnant women at high risk for fetal chromosome aneuploidy for serum screening

Blood sampling for Laboratory Developed Test (LDT) analysis

Intervention Type: OTHER

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

TORCH Arm

Infectious disease arm: Toxoplasmosis, other viruses, rubella, cytomegalovirus, and herpes simplex virus (TORCH). Includes pregnant women at low-risk for fetal aneuploidy that may be at increased risk for fetal infection for serum screening

Blood sampling for Laboratory Developed Test (LDT) analysis

Intervention Type: OTHER

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

Interventions

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

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Subject is willing to provide informed consent and comply with study procedures
• Pregnant female, 18 to 54 years of age carrying a singleton fetus of 8 to 22 weeks gestational age
• Willing to provide a study blood sample in accordance with the protocol
• Willing to allow access to her medical records to collect pregnancy outcome information
• Willing to provide consent for release of fetal karyotype if an invasive procedure (CVS or amniocentesis) is performed during the pregnancy
• Subject is known to be at risk for one or more of the following:
• fetal gene and chromosome abnormalities (e.g., T21, T18, T13, microdeletion syndromes, sex chromosome abnormalities)
• congenital fetal infection (e.g. toxoplasmosis, syphilis, HIV, rubella, CMV, HSV)
• irregular blood group antigens (subject or father of the baby)
• other condition amenable to noninvasive prenatal testing such as a single gene disorder (e.g., CF, sickle cell, Fragile X)

Exclusion Criteria

• No fetal heart activity detected
• Mother or father have known chromosomal abnormalities (including known balanced translocations)
• Women with active or history of malignancy

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 54 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

Progenity, Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Peter Stiegler, PhD

Role: STUDY_DIRECTOR

Head of Clinical Affairs

Locations

Valley Perinatal

Scottsdale, Arizona, United States

Heinen Obstectrics & Gynecology

Eunice, Louisiana, United States

Newlife Wellness OBGYN

Brooklyn, New York, United States

Lakeshore Women's Specialists

Mooresville, North Carolina, United States

Cincinnati Obgyn

Cincinnati, Ohio, United States

James D. Kasten, M.D., Inc.

Norwalk, Ohio, United States

Regional Obstetrical Consultants

Chattanooga, Tennessee, United States

Texas Maternal-Fetal Medicine

Webster, Texas, United States

Countries

United States

Other Identifiers

PRO-102-ENIGMA

Identifier Type: -

Identifier Source: org_study_id