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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01852708
Recruitment Status : Recruiting
First Posted : May 14, 2013
Last Update Posted : March 13, 2019
Information provided by (Responsible Party):
Natera, Inc.

Brief Summary:
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.

Condition or disease
Trisomy 21 Trisomy 18 Trisomy 13 Sex Chromosome Abnormalities Microdeletion Syndromes

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 6000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood
Study Start Date : November 2012
Estimated Primary Completion Date : November 2019
Estimated Study Completion Date : November 2019

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).

Primary Outcome Measures :
  1. Sensitivity and Specificity of testing [ Time Frame: 1 year ]
    Sensitivity and Specificity of the test to diagnose microdeletions (eg. 22q and 5p-) and aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.

Biospecimen Retention:   Samples With DNA
The mother and biological father (if available) will be asked to provide a blood sample. There will be 4 tubes collected from the mother (approximately 3 tablespoons) and 1 tube collected from the father (2 teaspoons).

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Pregnant women

Inclusion Criteria:

  • Age 18 or older at enrollment
  • Singleton pregnancy
  • Fetus with confirmed diagnosis of chromosomal abnormality or genetic disorder through karyotype, FISH or positive microarray results after amniocentesis or chorionic villus testing
  • The biological father of the fetus at least 18 years of age
  • Able to provide informed consent

Exclusion Criteria:

  • Women carrying multiples
  • Pregnancy is a result of IVF with pre-implantation genetic diagnosis
  • Surrogate/egg or sperm donor used
  • Previous participation in this study during a previous pregnancy

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01852708

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Contact: Melissa Egbert 650-249-9090 ext 696
Contact: Amanda Lee 650-249-9090 ext 1913

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United States, California
Natera, Inc. Recruiting
San Carlos, California, United States, 94070
Contact: Amanda Lee    650-249-9090 ext 1913   
Principal Investigator: Kim Martin, MD         
MFM Group of Southern CA Recruiting
San Gabriel, California, United States, 91776
Contact: Yolanda Brown    626-282-9250   
Principal Investigator: Ardeshir Karimi, MD         
United States, District of Columbia
Washington Women's Wellness Center Recruiting
Washington, District of Columbia, United States, 20010
Principal Investigator: Peggy Ye, MD         
United States, New Jersey
Saint Peter's University Hospital Completed
New Brunswick, New Jersey, United States, 08901
United States, New York
Columbia University Recruiting
New York, New York, United States, 10032
Contact: Caroline Torres, CCRC         
Principal Investigator: Ronald Wapner, MD         
Sponsors and Collaborators
Natera, Inc.
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Principal Investigator: Kim Martin, MD Natera, Inc.

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Responsible Party: Natera, Inc. Identifier: NCT01852708     History of Changes
Other Study ID Numbers: 12-014-NPT
First Posted: May 14, 2013    Key Record Dates
Last Update Posted: March 13, 2019
Last Verified: March 2019

Keywords provided by Natera, Inc.:
Turner syndrome
Patau syndrome
Edwards syndrome
Down syndrome

Additional relevant MeSH terms:
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Trisomy 13 Syndrome
Down Syndrome
Chromosome Aberrations
Chromosome Disorders
Trisomy 18 Syndrome
Sex Chromosome Aberrations
Pathologic Processes
Chromosome Duplication
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases