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Non Invasive Prenatal Testing of Down Syndrome (SAFE 21)

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ClinicalTrials.gov Identifier: NCT02127515
Recruitment Status : Unknown
Verified November 2015 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was:  Recruiting
First Posted : April 30, 2014
Last Update Posted : November 13, 2015
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief Summary:
This is a randomized controlled trial in women at risk following combined prenatal screening for Down Syndrome. Women will be asked about their preferences between NIPT and routine prenatal diagnosis based on a dedicated questionnaire. Women will then be randomized between NIPT and standard invasive prenatal diagnosis.

Condition or disease Intervention/treatment Phase
Down Syndrome Procedure: Non Invasive Prenatal Testing Procedure: Invasive Prenatal Testing Not Applicable

Detailed Description:

This is a randomized controlled trial in women at risk following combined prenatal screening for Down Syndrome. Women will be asked about their preferences between NIPT and routine prenatal diagnosis based on a dedicated questionnaire. Women will then be randomized between NIPT and standard invasive prenatal diagnosis.

The general objectives are :

  • Promote the rapid and large implementation of Non Invasive Prenatal Testing (NIPT) for Down syndrome.
  • Improve the management of women at risk after combined first trimester screening and reduce the number of invasive procedures and induced miscarriages .
  • Evaluate NIPT medically (in reducing the rate of invasive sampling and related complications, diagnostic performance and feasibility and acceptability in routine practice) and based on cost-analysis in comparison with standard invasive prenatal diagnosis currently proposed .
  • Clarify the conditions of implementation and dissemination of NIPT in the overall organization of prenatal screening for trisomy 21 (and provide data to later adjust or not the combination of tests and thresholds).

Promote the organization as networks of professionals involved in prenatal screening for trisomy 21 in order to allow the emergence of a national system of collection of outcomes to improve the quality of practices

The main judgement criteria are:

  • Main:

    - Percentage of fetal loss in each group

  • Secondary:

    • Percentage of invasive tests in each group (amniocentesis or chorionic villus sampling )
    • Diagnostic performance of NIPT , in particular false positive and negative
    • Percentage of results within 3 weeks and average time interval for results of NIPT
    • Percentage of inconclusive results of DPANI
    • Percentage of other anomalies discovered at invasive sampling
    • Percentage of invasive samples taken despite normal NIPT (either because of later ultrasound anomaly or for maternal reinsurance)
    • Association between maternal characteristics ( weight, height, parity , previous history , serum markers ... ) and the results of NIPT
    • Cost analysis of NIPT in routine clinical practice

The study will include 2450 high risk women in order to be powered enough to detect a 1% reduction of miscarriages in the group undergoing NIPT instead of routine invasive prenatal diagnosis.


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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 2450 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Non Invasive Prenatal Testing of Down Syndrome From Maternal Blood Sample
Study Start Date : April 2014
Estimated Primary Completion Date : April 2016
Estimated Study Completion Date : December 2016

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Down Syndrome

Arm Intervention/treatment
Experimental: Non Invasive Prenatal Testing
Blood sample
Procedure: Non Invasive Prenatal Testing
Active Comparator: Invasive Prenatal Testing
CVS or amniocentesis
Procedure: Invasive Prenatal Testing



Primary Outcome Measures :
  1. Number or miscarriages [ Time Frame: at birth ]

Secondary Outcome Measures :
  1. Number or invasive tests [ Time Frame: at birth ]
  2. false positive and negative rates of NIPT [ Time Frame: At birth ]
  3. Dedicated questionnaire for patients [ Time Frame: day 5 ]
  4. Cost of invasive tests and NIPT in euros [ Time Frame: at birth ]
    measure in euros



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • pregnant women over 18
  • at risk for Down syndrome> 1/250 based on combined screening using ultrasound together with maternal serum markers and prior to fetal karyotyping
  • singleton pregnancy
  • pregnancy between 11SA et 18SA
  • willing a fetal karyotype

Exclusion Criteria:

  • risk for Down syndrome< 1/250 or >1/5
  • NT> 3 mm, PAPP-A or beta HCG <0.3 MoM or >5 MoM
  • multiple pregnancy , vanishing twin
  • morphological abnormalities at US
  • Kown chromosomal anomaly in parents
  • Patients not willing a fetal karyotype

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02127515


Contacts
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Contact: laurence Bussieres, PhD 6 17 35 65 83 ext +33 laurence.bussieres@nck.aphp.fr
Contact: laurence lecomte 1 71 19 64 94 ext +33 laurence.lecomte@nck.aphp.fr

Locations
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France
Hôpital Necker- Enfants Malades Recruiting
Paris, France, 75015
Contact: Laurence Bussières, PhD    1 44 49 43 26 ext +33    laurence.bussieres@nck.aphp.fr   
Contact: Laurence Lecomte, PhD    1 71 19 64 94 ext +33    laurence.lecomte@nck.aphp.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
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Principal Investigator: Laurent J Salomon, MD, PhD Assistance Publique - Hôpitaux de Paris
Study Director: Michel VEKEMANS, MD, PhD Assistance Publique - Hôpitaux de Paris

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02127515     History of Changes
Other Study ID Numbers: P130601
2013-A00998-37 ( Other Identifier: ANSM )
First Posted: April 30, 2014    Key Record Dates
Last Update Posted: November 13, 2015
Last Verified: November 2015

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Down, trisomy 21
NIPT
Amniocentesis
miscarriage
invasive
prenatal
screening.

Additional relevant MeSH terms:
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Syndrome
Down Syndrome
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn