NCT02127515

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2,111

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Apr 2014

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

April 2, 2014

Completed
6 days until next milestone

Study Start

First participant enrolled

April 8, 2014

Completed
22 days until next milestone

First Posted

Study publicly available on registry

April 30, 2014

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 7, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

November 7, 2016

Completed
Last Updated

September 19, 2025

Status Verified

September 1, 2025

Enrollment Period

2.6 years

First QC Date

April 2, 2014

Last Update Submit

September 15, 2025

Conditions

Down Syndrome

Keywords

Down, trisomy 21NIPTAmniocentesismiscarriageinvasiveprenatalscreening.

Outcome Measures

Primary Outcomes (1)

  • Number or miscarriages

    at birth

Secondary Outcomes (4)

  • Number or invasive tests

    at birth

  • false positive and negative rates of NIPT

    At birth

  • Dedicated questionnaire for patients

    day 5

  • Cost of invasive tests and NIPT in euros

    at birth

Study Arms (2)

Non Invasive Prenatal Testing

EXPERIMENTAL

Blood sample

Procedure: Non Invasive Prenatal Testing

Invasive Prenatal Testing

ACTIVE COMPARATOR

CVS or amniocentesis

Procedure: Invasive Prenatal Testing

Interventions

Non Invasive Prenatal TestingPROCEDURE
Non Invasive Prenatal Testing
Invasive Prenatal TestingPROCEDURE
Invasive Prenatal Testing

Eligibility Criteria

Age18 Years+
Sexfemale
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Necker- Enfants Malades

Paris, 75015, France

Location

Related Publications (3)

  • Le Bras A, Salomon LJ, Bussieres L, Malan V, Elie C, Mahallati H, Ville Y, Vekemans M, Durand-Zaleski I. Cost-effectiveness of five prenatal screening strategies for trisomies and other unbalanced chromosomal abnormalities: model-based analysis. Ultrasound Obstet Gynecol. 2019 Nov;54(5):596-603. doi: 10.1002/uog.20301.

    PMID: 31006923BACKGROUND

  • Seror V, L'Haridon O, Bussieres L, Malan V, Fries N, Vekemans M, Salomon LJ, Ville Y; SAFE 21 Study Group. Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome. JAMA Netw Open. 2019 Mar 1;2(3):e191062. doi: 10.1001/jamanetworkopen.2019.1062.

    PMID: 30924894BACKGROUND

  • Malan V, Bussieres L, Winer N, Jais JP, Baptiste A, Le Lorc'h M, Elie C, O'Gorman N, Fries N, Houfflin-Debarge V, Sentilhes L, Vekemans M, Ville Y, Salomon LJ; SAFE 21 Study Group. Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial. JAMA. 2018 Aug 14;320(6):557-565. doi: 10.1001/jama.2018.9396.

    PMID: 30120476BACKGROUND

MeSH Terms

Conditions

Down SyndromeAbortion, Spontaneous

Condition Hierarchy (Ancestors)

Intellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornPregnancy ComplicationsFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital Diseases

Study Officials

  • Laurent J Salomon, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

  • Michel VEKEMANS, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    STUDY DIRECTOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
RANDOMIZED
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 2, 2014

First Posted

April 30, 2014

Study Start

April 8, 2014

Primary Completion

November 7, 2016

Study Completion

November 7, 2016

Last Updated

September 19, 2025

Record last verified: 2025-09

Locations

FR(1)