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

Trisomy 21 Clinical Trial

— Microdel Triad  

Official title:

Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02109770
• Other study ID #: GSN014
• Status: Completed
• Start date: October 2012
• Est. completion date: August 2019

Study information

• Verified date: August 2019
• Source: Natera, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 216
• Est. completion date: August 2019
• Est. primary completion date: June 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Chromosome Aberrations
• Chromosome Disorders
• Down Syndrome
• Microdeletion Syndromes
• Sex Chromosome Aberrations
• Sex Chromosome Abnormalities
• Syndrome
• Trisomy 13
• Trisomy 18
• Trisomy 21

Locations

Country	Name	City	State
United States	Children's Hospital Of Philadelphia	Philadelphia	Pennsylvania
United States	Natera	San Carlos	California

Sponsors (1)

Lead Sponsor	Collaborator
Natera, Inc.

Country where clinical trial is conducted

United States, 

References & Publications (1)

Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonsson S, Wayham N, Ryan A, Banjevic M, Lacroute P, Hu J, Hall MP, Demko Z, Siddiqui A, Rabinowitz M, Gross SJ, Hill M, Benn P. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015 Mar;212(3):332.e1-9. doi: 10.1016/j.ajog.2014.11.041. Epub 2014 Dec 2. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus		4 years