for females ages 18 years and up (full criteria)
at San Diego, California and other locations
study started
completion around
Principal Investigator
by Andrew Hull, MD
Headshot of Andrew Hull
Andrew Hull



The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.

Official Title

Collection of Whole Blood Specimens From Pregnant Women at Increased Risk of Fetal Chromosomal Abnormality for Use in Development of a Noninvasive Prenatal Test in the Detection of the Relative Quantity of Chromosomal Material in Circulating Cell-Free DNA Extracted From Maternal Plasma


To collect specimens for the purpose of developing a prenatal aneuploidy test. The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis.


Down Syndrome, Fetal Aneuploidy, trisomy, noninvasive screening test, Aneuploidy


You can join if…

Open to females ages 18 years and up

  • pregnant between 10 and 22 weeks gestation
  • 18 years of age or older
  • provides signed and dated informed consent
  • subject is at increased risk for fetal aneuploidy
  • subject is willing to undergo a CVS and/or amniocentesis procedure for the purpose of genetic analysis
  • subject agrees to provide the genetic results of the invasive procedure

You CAN'T join if...

  • Fetal demise at time of specimen sampling
  • Previous sample donation under this protocol


  • UCSD accepting new patients
    San Diego California 92121 United States
  • Specialty Obstetrics of San Diego accepting new patients
    San Diego California 92130 United States
  • Women's Health Care Research accepting new patients
    San Diego California 92123 United States
  • Sharp-Rees Stealy Medical Group accepting new patients
    San Diego California 92101 United States

Lead Scientist at UCSD

  • Andrew Hull, MD
    Professor Of Clinical, Ob/Gyn & Reproductive sciences, Vc-health Sciences-schools. Authored (or co-authored) 57 research publications


accepting new patients
Start Date
Completion Date
Sequenom, Inc.
Study Type
Expecting 2000 study participants
Last Updated