Non-Invasive Screening for Fetal Aneuploidy

• Conditions: Edwards Syndrome; Down Syndrome
• Interventions: Other: Maternal Blood Draw

• Registration Number: NCT02317965
• Lead Sponsor: Progenity, Inc.

Brief Summary

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

Detailed 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.

Study Timeline

• Study First Submitted: 2014-12-09
• Study First Submitted QC: 2014-12-11
• Study First Posted: 2014-12-17
• Study Start: 2015-03
• Status Verified: 2018-08
• Last Update Submitted: 2018-08-27
• Last Update Posted: 2018-08-28
• Primary Completion: 2018-11
• Study Completion: 2018-11

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Female
• Target Recruitment: 340

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Pregnant Women	Maternal Blood Draw	Pregnant women who are scheduled to undergo an amniocentesis or chorionic villus sampling (CVS) procedure Intervention: Single Maternal blood draw of 20mL

Primary Outcome Measures

Name	Time	Method
Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis	Participants will have a single visit and completion in study occurs once invasive procedure results have been recorded.	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.

Trial Locations

Locations (10)

Obstetrix, Medical Group of Washington, Inc. - Swedish Medical Center; 🇺🇸 Seattle, Washington, United States

OBX Med. Group. of Colorado - Perinatal Resource Ctr @ Swedish Med Ctr.; 🇺🇸 Englewood, Colorado, United States

Regional Obstetrical Consultants; 🇺🇸 Chattanooga, Tennessee, United States

Obstetrix Medical Group of Texas; 🇺🇸 Fort Worth, Texas, United States

Long Beach Memorial Medical Ctr - 2nd Floor Perinatal; 🇺🇸 Long Beach, California, United States

Obstetrix Medical Group of California; 🇺🇸 Campbell, California, United States

OBX Med. Group. of Colorado - Antepartum Testing Unit @ Rose Medical Center; 🇺🇸 Denver, Colorado, United States

OBX Med. Group. of Colorado - Skyridge; 🇺🇸 Lone Tree, Colorado, United States

OBX Med. Group. of Colorado - Pres/St Luke's Clinic; 🇺🇸 Denver, Colorado, United States

Obstetrix Medical Group of Houston; 🇺🇸 The Woodlands, Texas, United States