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Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

NCT ID: NCT01852708

Last Updated: 2020-12-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

1059 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-11-30

Study Completion Date

2020-10-31

Brief Summary

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The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

Detailed Description

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The goal of this study is to further develop a non-invasive prenatal blood test that can diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in the mother's bloodstream during pregnancy.

Women carrying a fetus diagnosed with microdeletions/microduplications (small missing or extra pieces of DNA that can cause problems), aneuploidy (trisomy 21, 18, or 13) or other genetic disorders will be asked to participate.

If this study is successful, it will reduce the need for invasive procedures during pregnancy such as amniocentesis and chorionic villus sampling (CVS) but still enable women to find out accurate information regarding their baby's health early in the pregnancy.

Conditions

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Trisomy 21 Trisomy 18 Trisomy 13 Sex Chromosome Abnormalities Microdeletion Syndromes

Keywords

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22q 1p36 Angelman Cri-du-chat Prader-Willi DiGeorge Turner syndrome Patau syndrome Edwards syndrome Down syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Pregnant Women

Women and their partners (presumed biological father of the fetus) who are currently pregnant and carrying a fetus that has been diagnosed with a microdeletion/duplication syndrome, aneuploidy or another genetic disorder (positive karyotype result or positive result on microarray test).

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Age 18 or older at enrollment
* Gestation age of at least 9 weeks, 0 days by best obstetrical estimate
* One or more fetuses with a clinically confirmed diagnosis of a genetic variant of interest via karyotype, FISH, chromosomal microarray or other genetic assay AND/OR
* One or more fetuses with any variant of fetal structure that is expected to require medical or surgical intervention in the newborn period, shorten lifespan, affect intellectual development or otherwise indicate a genetic anomaly AND/OR
* Positive high risk noninvasive prenatal screening or serum screening result
* Able to provide informed consent

Exclusion Criteria

•Maternal history of bone marrow or organ transplantation
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Natera, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Zachary Demko, PhD

Role: PRINCIPAL_INVESTIGATOR

Natera, Inc.

Locations

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Natera, Inc.

San Carlos, California, United States

Site Status

MFM Group of Southern CA

San Gabriel, California, United States

Site Status

Washington Women's Wellness Center

Washington D.C., District of Columbia, United States

Site Status

Saint Peter's University Hospital

New Brunswick, New Jersey, United States

Site Status

Columbia University

New York, New York, United States

Site Status

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status

Dr. Meltzer Clinic

Houston, Texas, United States

Site Status

Hospital Materno Infantil Vall d'Hebron

Barcelona, , Spain

Site Status

GenePhile Biosciences

Taipei, , Taiwan

Site Status

Countries

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United States Spain Taiwan

Other Identifiers

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12-014-NPT

Identifier Type: -

Identifier Source: org_study_id