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

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2016 by Natera, Inc.
Information provided by (Responsible Party):
Natera, Inc. Identifier:
First received: April 8, 2014
Last updated: April 19, 2016
Last verified: April 2016
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.

Microdeletion Syndromes
Trisomy 21
Trisomy 18
Trisomy 13
Sex Chromosome Abnormalities

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Natera, Inc.:

Primary Outcome Measures:
  • 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

Estimated Enrollment: 200
Study Start Date: October 2012
Estimated Study Completion Date: December 2018
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
Mother child diads or triads
Families with child affected by genetic anomaly, microdeletion, microduplication, or chromosomal anomaly

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.


Ages Eligible for Study:   Child, Adult, Senior
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
  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 identifier: NCT02109770

Contact: Melissa Schirmer, MS 650-249-9090 ext 696
Contact: Melissa Stosic, MS, CGC 650-249-9090 ext 411

United States, California
Natera Recruiting
San Carlos, California, United States, 94070
United States, Pennsylvania
Children's Hospital Of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Rosetta Chiavacci, BSN, CCRC    267-426-0653   
Principal Investigator: Hakon Hakonarson, MD, PhD         
Sponsors and Collaborators
Natera, Inc.
Principal Investigator: Matthew Rabinowitz, PhD Natera, Inc.
  More Information

Responsible Party: Natera, Inc. Identifier: NCT02109770     History of Changes
Other Study ID Numbers: GSN014
Study First Received: April 8, 2014
Last Updated: April 19, 2016

Keywords provided by Natera, Inc.:
Klinefelter syndrome
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

Additional relevant MeSH terms:
Down Syndrome
Chromosome Aberrations
Chromosome Disorders
Sex Chromosome Aberrations
Pathologic Processes
Chromosome Duplication
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn processed this record on April 21, 2017