Non-Invasive Screening for Fetal Aneuploidy

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.

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

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.

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.