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Prenatal Screening for Down Syndrome With DNAFirst

NCT01966991 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2018-02-22

No results posted yet for this study

Summary

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.

Conditions

  • Trisomy 21
  • Trisomy 18
  • Trisomy 13
  • Monosomy X

Sponsors & Collaborators

  • Natera, Inc.

    collaborator INDUSTRY

  • Women and Infants Hospital of Rhode Island

    lead OTHER

Principal Investigators

  • Glenn E Palomaki, PhD · Women and Infants Hospital of Rhode Island

Eligibility

Min Age
18 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-06-30
Primary Completion
2015-07-31
Completion
2015-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01966991 on ClinicalTrials.gov