Aneuploidy, Down Syndrome
Conditions
Keywords
Down syndrome, aneuploidy, amniocentesis, chorionic villus sampling, Trisomy
Brief summary
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.
Interventions
OTHERMaternal blood draw of 30 to 50ml
Maternal blood draw of 30 to 50mls during pregnancy. Blood may be drawn up to 5 times during the pregnancy between weeks 8 and 36 gestation.
Sponsors
Sequenom, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| NIPD result compared to standard test results | baseline | Result of NIPD test will be compared to the standard test results obtained by karyotype, FISH, QF-PCR, and/or commerical NIPD result. |
Countries
United States
Outcome results
None listed