Non-Invasive Screening for Fetal Aneuploidy

Down Syndrome Clinical Trial

Official title:

A Prospective Clinical Study to Evaluate a Novel Non-invasive Prenatal Screening Method for Characterizing Fetal Whole Chromosome Aberrations and Other Major Defects and Deletions Found in the Maternal Blood.

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT02317965
• Other study ID #: PRO-100
• Status: Active, not recruiting
• Start date: March 2015
• Est. completion date: November 2018

Study information

• Verified date: August 2018
• Source: Progenity, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The purpose of this study is to detect whole chromosome abnormalities in maternal blood.

Description:

The purpose of this study is to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y, in the fetus through analysis of cell free and compound sample DNA (cf DNA and cs DNA, respectively) in maternal blood. In addition, major deletions and duplications in chromosomes 1, 4, 5, and 22 will be detected.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 340
• Est. completion date: November 2018
• Est. primary completion date: November 2018
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years to 54 Years

Eligibility

Inclusion Criteria:

• • Subject is a pregnant woman 18-54 years of age at 8-22 weeks' gestation inclusive;

• Subject has additional risk indicators for fetal chromosome aneuploidy, including one or more of the following:

• Maternal age > 34 years at the estimated date of delivery;

• Positive serum screening test suggesting fetal aneuploidy;

• Previous positive noninvasive cfDNA test is acceptable

• Fetal ultrasound abnormality suggesting fetal chromosomal abnormality;

• Personal or family history of Down syndrome or other chromosomal aneuploidy.

• Willing to provide written informed consent

• Willing to be re-contacted subsequently for additional information and/or testing if necessary.

Exclusion Criteria:

• Subjects will not be entered into this study if they meet the following criteria:

• Fetal demise at the time of the blood draw;

• Previous specimen donation under this protocol;

• Unwilling or lacks the capacity to provide informed consent or to comply with study procedures;

• Currently under treatment for cancer

• Any history of autoimmune disease

• Any pelvic mass

• Previous history of radiation to pelvis

• Any history or current evidence of a twin demise at any gestational age.

Related Conditions & MeSH terms

• Down Syndrome
• Edwards Syndrome
• Syndrome

Intervention

Other:
• Maternal Blood Draw
Maternal Blood Draw

Locations

Country	Name	City	State
United States	Obstetrix Medical Group of California	Campbell	California
United States	Regional Obstetrical Consultants	Chattanooga	Tennessee
United States	OBX Med. Group. of Colorado - Antepartum Testing Unit @ Rose Medical Center	Denver	Colorado
United States	OBX Med. Group. of Colorado - Pres/St Luke's Clinic	Denver	Colorado
United States	OBX Med. Group. of Colorado - Perinatal Resource Ctr @ Swedish Med Ctr.	Englewood	Colorado
United States	Obstetrix Medical Group of Texas	Fort Worth	Texas
United States	OBX Med. Group. of Colorado - Skyridge	Lone Tree	Colorado
United States	Long Beach Memorial Medical Ctr - 2nd Floor Perinatal	Long Beach	California
United States	Obstetrix, Medical Group of Washington, Inc. - Swedish Medical Center	Seattle	Washington
United States	Obstetrix Medical Group of Houston	The Woodlands	Texas

Sponsors (2)

Lead Sponsor	Collaborator
Progenity, Inc.	Obstetrix Medical Group

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis	A single 20 mL blood sample will be obtained from each subject during the first or second trimester, blind-coded, and transferred to the Sponsor Laboratory for processing to plasma.; Subjects electing to undergo an invasive procedure for fetal Karyotyping (defined as standard cytogenetics and/or microarray, FISH, QF-PCR) will have the blood sample obtained prior to the procedure.; The performance characteristics (sensitivity, specificity, negative and positive predictive value) of the laboratory developed test to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y will be determined using fetal karyotype on specimens obtained by chorionic villus sampling and/or genetic amniocentesis for those subjects who undergo these diagnostic procedures as part of their standard care as the gold standard.	Participants will have a single visit and completion in study occurs once invasive procedure results have been recorded.