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Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

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Record identity and dates

Source
ClinicalTrials.gov
Source record ID
NCT06147414
Title field or adapter rule
{'original_value': 'Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders', 'source_field': 'protocolSection.identificationModule.officialTitle'}
Ingested At
2026-10-31T23:27:22.799983+00:00
Published At
2026-10-21T00:00:00+00:00
Record Updated At
2026-10-21
Source Retrieved At
2026-10-31T22:17:25.750886+00:00
Timestamp Basis
ClinicalTrials.gov API/RSS response retrieval timestamp recorded by Dossier adapter
Date limitation
ClinicalTrials.gov API/RSS response retrieval timestamp recorded by Dossier adapter

Fields recorded by this source

protocolSection.conditionsModule.conditions
["Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including", "Sickle Cell Disease", "Cystic Fibrosis", "Fragile X Syndrome", "Proximal Spinal Muscular Atrophy", "Myotonic Dystrophy", "Muscular Dystrophy, Duchenne", "Muscular Dystrophy, Becker", "Neurofibromatosis-Noonan Syndrome", "Huntington Disease", "Hemophilia A", "Hemophilia B", "MODY2 Diabetes", "X-Linked Hydrocephalus", "Autosomal Recessive Polycystic Kidney Disease"]
protocolSection.statusModule.lastUpdatePostDateStruct
{"date": "2026-10-21", "type": "ACTUAL"}
protocolSection.identificationModule.nctId
"NCT06147414"
protocolSection.identificationModule.officialTitle
"Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders"
protocolSection.statusModule.overallStatus
"RECRUITING"
protocolSection.designModule.phases
null
protocolSection.statusModule.resultsFirstPostDateStruct
null

Study condition terms

  • Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including (protocolSection.conditionsModule.conditions)
  • Sickle Cell Disease (protocolSection.conditionsModule.conditions)
  • Cystic Fibrosis (protocolSection.conditionsModule.conditions)
  • Fragile X Syndrome (protocolSection.conditionsModule.conditions)
  • Proximal Spinal Muscular Atrophy (protocolSection.conditionsModule.conditions)
  • Myotonic Dystrophy (protocolSection.conditionsModule.conditions)
  • Muscular Dystrophy, Duchenne (protocolSection.conditionsModule.conditions)
  • Muscular Dystrophy, Becker (protocolSection.conditionsModule.conditions)
  • Neurofibromatosis-Noonan Syndrome (protocolSection.conditionsModule.conditions)
  • Huntington Disease (protocolSection.conditionsModule.conditions)
  • Hemophilia A (protocolSection.conditionsModule.conditions)
  • Hemophilia B (protocolSection.conditionsModule.conditions)
  • MODY2 Diabetes (protocolSection.conditionsModule.conditions)
  • X-Linked Hydrocephalus (protocolSection.conditionsModule.conditions)
  • Autosomal Recessive Polycystic Kidney Disease (protocolSection.conditionsModule.conditions)

Interventions recorded in this study

  • {'armGroupLabels': ['pregnant women undergoing invasive PND in a context of family history of SGD', 'pregnant women undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK'], 'description': 'A blood sample (50 ml) will be taken in care of prenatal diagnosis and 40 ml will be used for study.\n\nThe 40 mL of blood needed for the research will be collected on BCT tubes (4 tubes).\n\nDuring the study, in centers, the plasma samples will be stored at room temperature and will be sent to the laboratory within 24 hours (no centrifugation in centers).\n\nThe plasma samples will be then temporarily stored at -80°C in each co-investigating laboratory under the supervision of lab supervisor until the analysis. cfDNA will be extracted from the whole plasma sample before each sequencing run and stored à +4°C until the cfDNA sequencing.', 'name': 'Blood sample', 'type': 'BIOLOGICAL'} (protocolSection.armsInterventionsModule.interventions[])

An intervention appearing in a study record does not establish an effect or an approved use.

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