Clinical trial NCT02109770: Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
Official title: Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Microdeletion Syndromes
Trisomy 21
Trisomy 18
Trisomy 13
Sex Chromosome Abnormalities
Keywords: 22q
DiGeorge
Angelman
Cri du chat
Miller Dieker
1p36
Phelan McDermid
Prader Willi
Wolf Hirschorn
Smith Magenis
Trisomy 21
Down syndrome
Trisomy 18
Edwards syndrome
Trisomy 13
Patau syndrome
Monosomy X
Turner syndrome
XXY
Klinefelter syndrome
XXX
XYY
Lead sponsor: Natera, Inc.
Sponsor class: INDUSTRY
First posted: 2014-04-10
Enrollment: 216
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Families with a child affected by a chromosomal abnormality.

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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus
timeFrame: 4 years
Secondary outcomes:
Other outcomes:
Locations:
city: San Carlos
country: United States
facility: Natera
state: California
city: Philadelphia
country: United States
facility: Children's Hospital Of Philadelphia
state: Pennsylvania
Study officials:
affiliation: Natera, Inc.
name: Kim Martin, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.