Prenatal Screening for Down Syndrome With DNAFirst
Public ClinicalTrials.gov record NCT01966991. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
DNAFirst: Primary Screening for Down Syndrome by Maternal Plasma DNA
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT01966991
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 100 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 18 Years and older
- Sex
- Female
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- May 31, 2014
- Primary completion
- Jun 30, 2015
- Completion
- Nov 30, 2015
- Last update posted
- Feb 21, 2018
2014 – 2015
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Women & Infants Hospital of Rhode Island | Providence | Rhode Island | 02905 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01966991, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Feb 21, 2018 · Synced Sep 4, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01966991 live on ClinicalTrials.gov.