Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

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.

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Key information

Conditions

Down Syndrome 22q11 Deletion Syndrome Abnormalities, Multiple Aneuploidy Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Aberrations Chromosome Deletion Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities DiGeorge Syndrome Disorders of Sex Development Edwards Syndrome Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Hemic and Lymphatic Diseases Hypogonadism Hypoparathyroidism Intellectual Disability Klinefelter Syndrome Lymphatic Abnormalities Lymphatic Diseases Male Urogenital Diseases Monosomy Musculoskeletal Abnormalities Musculoskeletal Diseases Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Parathyroid Diseases Patau Syndrome Pathologic Processes Pathological Conditions, Signs and Symptoms Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Trisomy 13 Syndrome Trisomy 18 Syndrome Turner Syndrome Urogenital Abnormalities Urogenital Diseases

Age range

18 year–54 year

Sex eligibility

Female

Study type

Observational

Primary location

Valley Perinatal, Scottsdale, Arizona, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blood sampling for Laboratory Developed Test (LDT) analysis

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

Primary outcomes

Point estimates and 95% CIs for sensitivity, specificity, PPV, and NPV versus birth outcome (trisomy or Unaffected/non-trisomy) for the LDT in the population of pregnancies at mixed-risk for chromosomal abnormalities

Time frame: about 3 years

Primary Objective

Secondary outcomes

To estimate the false positive rate of the LDT versus birth outcome (trisomy or Unaffected/ non-trisomy) in a low-risk sub-population of pregnant women undergoing serum biochemical screening for fetal aneuploidy.

Time frame: about 3 years

Sponsors and collaborators

Lead sponsor

Progenity, Inc.

Industry

Registry information

Official study title

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

Important dates

Study start: 2015
Primary completion: 2018
Study completion: 2018
First posted: Jun 1, 2016
Registry last updated: Aug 21, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed