Prenatal Screening for Down Syndrome With DNAFirst
Completed
Conditions studied: Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X
In brief
This study will explore how maternal plasma circulating cell free DNA (ccfDNA) can be used as a primary screening test for Down syndrome as part of routine clinical care in the general pregnancy population. Plasma ccfDNA testing is currently recommended only for use as a secondary screen for 'high-risk' women (i.e., women whose risk factors for trisomy make them candidates for invasive testing such as chorionic villous sampling or amniocentesis). Because most women in this 'high-risk' category are carrying unaffected fetuses, many 'unnecessary' procedures are completed in order to identify the few women whose fetuses have a chromosomal disorder. This creates expense, anxiety, and most importantly, loss of unaffected fetuses due to procedure related miscarriage. Plasma DNA testing is now being used to reduce significantly the number of women with unaffected fetuses undergoing invasive testing. Applying such testing as a 'first-line' screen has not been well-explored, despite calls from several clinical professional societies to do so. The investigators intent is to introduce, under carefully monitored conditions, ccfDNA testing through Rhode Island primary prenatal practices to the general pregnancy population. Education/orientation of prenatal care providers, their staffs, and their patients will be carefully orchestrated, and implementation issues identified and addressed. Telephone surveys of consented patients will elicit responses to their understanding of the test, their satisfaction with the process, and a comparison of their experience with serum screening in a prior pregnancy. Knowledge gained from this study will help validate new screening paradigms involving ccfDNA testing. The study is not designed to estimate Down syndrome detection rates with any confidence, but can provide information on uptake rates, failure rates, screen positive rates, and the decision-making of women with positive test results.
Key facts
- Study ID
- NCT01966991
- Run by
- Women and Infants Hospital of Rhode Island
- People needed
- 100
- Starts
- 2014-06-01
- Expected to finish
- 2015-12-01
- Last updated by the study team
- 2018-02-22
Who can join
Age: 18 and older. Sex: female. Healthy volunteers: not accepted.
You may qualify if…
- at least 10 weeks pregnant
- satisfying inclusion criteria for the ccfDNA test (e.g, singleton, non egg-donor)
- opting for DNAFirst testing
- written permission to be contacted by telephone
- providing a usable phone number for contact
- consenting (verbally) to telephone survey
You may not qualify if…
- screen positive DNAFirst result
- non-English speaking
Where it is running
- Women & Infants Hospital of Rhode Island — Providence, Rhode Island, United States
Full record on ClinicalTrials.gov
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