Specimen Collection from Pregnant Women At Increased Risk for Fetal Aneuploidy

The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.

Recruiting

Interested in participating?

Key information

Conditions

Down Syndrome Abnormalities, Multiple Aneuploidy Chromosome Aberrations Chromosome Disorders Chromosome Duplication Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Fetal Aneuploidy Genetic Diseases, Inborn Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Pathologic Processes Pathological Conditions, Signs and Symptoms Trisomy

Age range

18 year and older

Sex eligibility

Female

Study type

Observational

Primary location

IWK Health Centre, Halifax, Nova Scotia, Canada

About this study

To collect specimens for the purpose of developing a prenatal aneuploidy test. The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

pregnant between 10 and 22 weeks gestation
18 years of age or older
provides signed and dated informed consent
subject is at increased risk for fetal aneuploidy
subject is willing to undergo a CVS and/or amniocentesis procedure for the purpose of genetic analysis
subject agrees to provide the genetic results of the invasive procedure

Exclusion criteria

Fetal demise at time of specimen sampling
Previous sample donation under this protocol

Sponsors and collaborators

Lead sponsor

Sequenom, Inc.

Industry

Registry information

Official study title

Collection of Whole Blood Specimens from Pregnant Women At Increased Risk of Fetal Chromosomal Abnormality for Use in Development of a Noninvasive Prenatal Test in the Detection of the Relative Quantity of Chromosomal Material in Circulating Cell-Free DNA Extracted from Maternal Plasma

Important dates

Study start: 2011
Primary completion: 2025
Study completion: 2026
First posted: Sep 7, 2011
Registry last updated: Oct 16, 2024

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.

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Completed