Clinical trial NCT01597063: Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies
Official title: A Clinical Study to Evaluate the Relative Clinical Specificity Performance of the SEQureDx Trisomy Test in Pregnant Women at Low Risk for Fetal Chromosomal Aneuploidy
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Aneuploidy
Down Syndrome
Noninvasive Prenatal Screening
Lead sponsor: Sequenom, Inc.
Sponsor class: INDUSTRY
First posted: 2012-05-11
Enrollment: 3333
Sex: FEMALE
Minimum age (years): 18
Maximum age (years): 34
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Pregnant with low risk for fetal chromosome 21 aneuploidy

Brief summary: Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored frozen until analysis. Each pregnancy will be followed until delivery and the birth outcome recorded.


Eligibility criteria: Inclusion Criteria:

* Pregnancy is 10-22 weeks gestation
* Between 18-34 years of age inclusive at estimated date of delivery
* No prenatal screening indicators for high risk including serum biochemical and ultrasound screening
* No personal or family history of Down syndrome
* Willing to provide written informed consent
* Willing to provide a whole blood sample
* Willing to provide access to medical records supporting fetal outcome

Exclusion Criteria:

* Fetal demise at the time of the blood draw
* Previous specimen donation under this protocol

Primary outcomes:
measure: Estimate the false positive rate of SEQureDx Trisomy 21 Test
timeFrame: pregnancy outcome
Secondary outcomes:
Other outcomes:
Locations:
city: Mobile
country: United States
facility: University of South Alabama
state: Alabama
city: Chandler
country: United States
facility: New Horizon Women's Care
state: Arizona
city: Phoenix
country: United States
facility: Precision Trials
state: Arizona
city: Tucson
country: United States
facility: Visions Clinical Research Tuscon
state: Arizona
city: Glendale
country: United States
facility: Descanso OBGYN
state: California
city: Glendora
country: United States
facility: Woodglen Medical Group
state: California
city: Los Angeles
country: United States
facility: White Memorial GYN/OB Medical Group
state: California
city: Pasadena
country: United States
facility: Fair Oaks Women's Health
state: California
city: San Diego
country: United States
facility: IGO Medical Group
state: California
city: San Diego
country: United States
facility: West Coast OBGYN
state: California
city: San Diego
country: United States
facility: Women's Health Care Research
state: California
city: Vista
country: United States
facility: Women's Clinical Research
state: California
city: Honolulu
country: United States
facility: Hawaii Pacific Health
state: Hawaii
city: Iowa City
country: United States
facility: University of Iowa Health Care
state: Iowa
city: Kansas City
country: United States
facility: University of Kansas Medical Center
state: Kansas
city: Grand Rapids
country: United States
facility: Spectrum Health - Maternal Fetal Medicine
state: Michigan
city: Royal Oak
country: United States
facility: William Beaumont Hospital
state: Michigan
city: Moorestown
country: United States
facility: Virtua Health
state: New Jersey
city: Mt. Holly
country: United States
facility: Virtua Health
state: New Jersey
city: Neptune
country: United States
facility: Jersey Shore University Medical Center
state: New Jersey
city: New Brunswick
country: United States
facility: Saint Peter's Hospital
state: New Jersey
city: Sewell
country: United States
facility: Virtua Health
state: New Jersey
city: Voorhees
country: United States
facility: Virtua Health
state: New Jersey
city: Dayton
country: United States
facility: Providence Health Partners - Center for Clinical Research
state: Ohio
city: Oklahoma City
country: United States
facility: University of Oklahoma Health Sciences Center
state: Oklahoma
city: Charleston
country: United States
facility: Medical University of South Carolina
state: South Carolina
city: Myrtle Beach
country: United States
facility: Magnolia OB/GYN Research Center- Recruiting
state: South Carolina
Study officials:
affiliation: Sequenom, Inc.
name: Daniel Grossu, MD
role: STUDY_DIRECTOR
References:
citation: Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
citation: Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.
citation: Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2.