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Trial record 1 of 1 for:    NCT02109770
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Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA (Microdel Triad)

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. Read our disclaimer for details. Identifier: NCT02109770
Recruitment Status : Completed
First Posted : April 10, 2014
Last Update Posted : August 26, 2019
Information provided by (Responsible Party):
Natera, Inc.

Brief Summary:
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal 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
Microdeletion Syndromes Trisomy 21 Trisomy 18 Trisomy 13 Sex Chromosome Abnormalities

Detailed Description:

The primary purpose of this study is to collect family triads from families affected by a genetic or microdeletion/duplication (MD/D) syndrome to further develop non-invasive prenatal testing based on fetal DNA isolated from maternal blood. To assist with the development of the test, we will need to collect blood samples from women whose child was diagnosed with a genetic or MD/D syndrome, a blood sample from that child as well as a blood sample from their confirmed unaffected siblings. Since the test is based on Natera's Parental Support™ technology, buccal or blood samples from the biological fathers will also be requested.

A recent abstract from a five year study on prenatal microarray testing revealed that 1.6% of women who present for routine prenatal indications have a positive microarray test. With the frequency of microdeletions and microduplications (MD/D) now known to be higher than previously thought, the field is likely to move toward offering invasive testing for microarray abnormalities to all pregnant women. Although non-invasive prenatal testing for aneuploidy is now clinically available, it has become clear that non-invasive prenatal testing for MD/D is equally important. However, access to these samples is made difficult as the standard of care for offering microarray analysis to all pregnant women will take time to come to fruition. We would like to develop this non-invasive as the standard of care so that less women will have to undergo invasive testing for the diagnosis of microarray abnormalities. Thus, there is an unmet need for the development of novel tests that would increase the scope of non-invasive prenatal screening.

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Study Type : Observational
Actual Enrollment : 216 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood
Actual Study Start Date : October 2012
Actual Primary Completion Date : June 2019
Actual Study Completion Date : August 2019

Mother child diads or triads
Families with child affected by genetic anomaly, microdeletion, microduplication, or chromosomal anomaly

Primary Outcome Measures :
  1. Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus [ Time Frame: 4 years ]

Biospecimen Retention:   Samples With DNA
  • Maternal blood sample
  • Affected child blood sample
  • Unaffected sibling blood sample
  • Father buccal or blood sample

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Families with a child affected by a chromosomal abnormality.

Inclusion Criteria:

  • Couples who have a child diagnosed with an autosomal chromosome abnormality (e.g. Down syndrome, Edwards syndrome, Patau syndrome).
  • Couples who have a child diagnosed with a sex chromosome abnormality (e.g. Turner syndrome, Klinefelter syndrome, Triple X syndrome, 47, XYY).
  • Couples who have a child diagnosed with a microdeletion/duplication syndrome (a positive microarray test).

Exclusion criteria:

  • Not an English language or Spanish language speaker
  • Genetics report is not available

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): NCT02109770

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United States, California
San Carlos, California, United States, 94070
United States, Pennsylvania
Children's Hospital Of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
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: NCT02109770    
Other Study ID Numbers: GSN014
First Posted: April 10, 2014    Key Record Dates
Last Update Posted: August 26, 2019
Last Verified: August 2019
Keywords provided by Natera, Inc.:
Cri du chat
Miller Dieker
Phelan McDermid
Prader Willi
Wolf Hirschorn
Smith Magenis
Trisomy 21
Down syndrome
Trisomy 18
Edwards syndrome
Trisomy 13
Patau syndrome
Monosomy X
Turner syndrome
Klinefelter syndrome
Additional relevant MeSH terms:
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Down Syndrome
Trisomy 13 Syndrome
Trisomy 18 Syndrome
Chromosome Disorders
Chromosome Aberrations
Sex Chromosome Aberrations
Pathologic Processes
Congenital Abnormalities
Chromosome Duplication
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Genetic Diseases, Inborn
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases