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

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2015 by Natera, Inc.
Sponsor:
Information provided by (Responsible Party):
Natera, Inc.
ClinicalTrials.gov Identifier:
NCT01852708
First received: May 6, 2013
Last updated: April 21, 2015
Last verified: April 2015
  Purpose

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
Trisomy 21
Trisomy 18
Trisomy 13
Sex Chromosome Abnormalities
Microdeletion Syndromes

Study Type: Observational
Study Design: 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

Resource links provided by NLM:


Further study details as provided by Natera, Inc.:

Primary Outcome Measures:
  • 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. [ Time Frame: 1 year ] [ Designated as safety issue: No ]

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).


Estimated Enrollment: 100
Study Start Date: November 2012
Estimated Study Completion Date: November 2016
Estimated Primary Completion Date: November 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts
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).

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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Pregnant women

Criteria

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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01852708

Contacts
Contact: Melissa Savage 650-249-9090 ext x411 research@natera.com

Locations
United States, California
Natera, Inc. Recruiting
San Carlos, California, United States, 94070
Contact: Melissa Schirmer, MS    650-249-9090 ext 696    mschirmer@natera.com   
Principal Investigator: Zachary Demko, PhD         
MFM Group of Southern CA Recruiting
San Gabriel, California, United States, 91776
Contact: Yolanda Brown    626-282-9250    yolanda@pd-rg.com   
Principal Investigator: Ardeshir Karimi, MD         
United States, New Jersey
Saint Peter's University Hospital Recruiting
New Brunswick, New Jersey, United States, 08901
Contact: Marian Lake    732-339-7602    mlake@saintpetersuh.com   
Principal Investigator: Angela Ranzini, MD         
Sponsors and Collaborators
Natera, Inc.
Investigators
Principal Investigator: Zachary Demko, PhD Natera, Inc.
  More Information

No publications provided

Responsible Party: Natera, Inc.
ClinicalTrials.gov Identifier: NCT01852708     History of Changes
Other Study ID Numbers: 12-014-NPT
Study First Received: May 6, 2013
Last Updated: April 21, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by Natera, Inc.:
22q
1p36
Angelman
Cri-du-chat
Prader-Willi
DiGeorge
Turner syndrome
Patau syndrome
Edwards syndrome
Down syndrome

Additional relevant MeSH terms:
Chromosome Aberrations
Chromosome Disorders
Sex Chromosome Aberrations
Trisomy
Aneuploidy
Chromosome Duplication
Congenital Abnormalities
Genetic Diseases, Inborn
Pathologic Processes

ClinicalTrials.gov processed this record on July 01, 2015