Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

Sequenom

Status: Completed

Conditions: Patau Syndrome (Trisomy 13); Edwards Syndrome (Trisomy 18); Turner Syndrome; Down Syndrome (Trisomy 21)

Study type: Observational

Funder types: Industry

Identifiers

NCT00770458

SQNM-Trisomy21-0100

Details and patient eligibility

About

Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.

Enrollment: 1,000 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Subject is female
• Subject is pregnant
• Subject is high risk aneuploid patient undergoing genetic counseling, unltrasound screening, amniocentesis and/or CVS procedure
• Subject is willing to provide blood specimen

Exclusion criteria

• Subject is not pregnant
• Subject is not willing to provide blood specimen
• Subject is not haveing aneuploid screening

Trial design

1,000 participants in 1 patient group

Pregnant women

Description:

Pregnant women that will undergo standard of care procedures to evaluate fetus for Down Syndrome