Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies (CHARMM-AP)

Sequenom

Status: Completed

Conditions: Aneuploidy; Down Syndrome

Treatments: Other: Maternal blood draw of 30 to 50ml

Study type: Observational

Funder types: Industry

Identifiers

NCT01052688

SQNM T21-305

Details and patient eligibility

About

To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from women who are pregnant with a fetus previously determined to have a chromosomal abnormality. The NIPD result will be compared to the standard test results obtained from other test methods such as karyotype, FISH, QF-PCR, and/or any commercially available NIPD test.

Enrollment: 150 patients

Sex: Female

Volunteers: No Healthy Volunteers

Inclusion criteria

• Subject is female
• Subject is 18 years or older
• Subject is no less than 8 and no more than 36 weeks gestation
• Subject provides a signed and dated informed consent
• Subject agrees to provide one or more 30-50mL blood sample(s) in accordance with the protocol
• Subject has a current pregnancy in which the fetus is known to have chromosomal aneuploidy (e.g. T13, T18, T21)

Exclusion criteria

• Non-singleton pregnancy in which only one fetus is known to have a chromosomal aneuploidy

Trial design

150 participants in 1 patient group

Pregnant Women

Description:

Pregnant women who have been definitively diagnosed as carrying a fetus with aneuploidy.

Treatment:

Other: Maternal blood draw of 30 to 50ml