Sequenom T21 Study

Condition: Prenatal Diagnosis


Key Inclusion Criteria

  • Female who is at least 8 weeks pregnant and no more than 26 weeks gestation
  • At least 18 years old
  • At increased risk for fetal chromosomal abnormalities (abnormalities of the fetus)

Key Exclusion Criteria

  • Patients with intrauterine fetal death (death of fetus within the uterus) who have delivered the fetus
  • Previous sample donation under this study with the same pregnancy

Full Study Name

Collection of Whole Blood Specimens From Pregnant Women at Increased Risk for 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 (IRB no. 26111)


This study focuses on patients who will undergo chorionic villus sampling (CVS) or amniocentesis (amnio) and who are at increased risk for having fetal aneuploidy (chromosomal abnormalities in the fetus). The study is designed to evaluate the investigational use of an in vitro diagnostic test called SEQureDx Trisomy 21. Researchers will compare SEQureDx Trisomy 21 to existing tests in order to learn more about the detection of fetal aneuploidy. CVS or amnio procedures are both invasive procedures and can carry an increased risk of complications. Researchers are conducting this study to help develop a new, noninvasive test.

Principal Investigator

John Williams III, MD