Non Syndromic Congenital Heart Defect and Array-CGH in Prenatal Diagnosis (CAPA)
Prospective Study for Diagnosis Utility of Array-CGH Screening in Case of Non Syndromic Congenital Heart Defect in Prenatal Diagnosis (CAPA)
Comparative genomic hybridization (CGH)-based microarrays are now often used during pregnancy in case of fetal polymalformation in order to assess significant genomic alterations. However, it is not clear whether array-CGH provide a diagnostic utility in case of isolated congenital heart defect.
This is the first prospective study aiming at defining the right chromosomal screening when a fetal isolated congenital heart defect is identified by ultrasound.
Studieöversikt
Status
Betingelser
Detaljerad beskrivning
Comparative genomic hybridization (CGH)-based microarrays are now often used during pregnancy in case of fetal polymalformation in order to assess significant genomic alterations. Up to now, in case of isolated heart defect, only fetal karyotype with FISH 22q11 was usually offered. However, micro deletions or duplications could not be identified elsewhere throughout the genome. Then, in case of fetal chromosomal micro-rearrangements, parents could not be fully informed for global and neurodevelopmental prognosis. To our knowledge, clear-cut study, to assess whether array-CGH provide a diagnostic utility in case of isolated congenital heart defect, don't exist.
After informed consent, 80 women will be enrolled during two years in 2 official prenatal diagnosis centers in France. This survey is assumed to identify at least 8% of unbalanced chromosomal abnormalities. This will be also compared with 22q11 rearrangements rate.
This is the first prospective study aiming at defining the right chromosomal screening when a fetal isolated congenital heart defect is identified by ultrasound.
Studietyp
Inskrivning (Faktisk)
Kontakter och platser
Studieorter
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Rennes, Frankrike, 35009
- Rennes University Hospital
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St Brieuc, Frankrike
- St Brieuc University Hospital
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Deltagandekriterier
Urvalskriterier
Åldrar som är berättigade till studier
Tar emot friska volontärer
Kön som är behöriga för studier
Testmetod
Studera befolkning
Beskrivning
Inclusion Criteria:
- Pregnant woman over 18-year-old ;
- Ongoing health insurance ;
- Informed consent ;
- Prenatal samples from amniotic fluid ;
- Isolated congenital heart defect.
Exclusion Criteria:
- Transposition of great arteries ;
- Amniotic fluid sample refusal.
Studieplan
Hur är studien utformad?
Designdetaljer
Vad mäter studien?
Primära resultatmått
Resultatmått |
Tidsram |
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Identification a significant rate of chromosomal imbalances on ACPA > 8%
Tidsram: J0
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J0
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Sekundära resultatmått
Resultatmått |
Tidsram |
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To compare rates of abnormalities identified by karyotype FISH 22q11 versus ACPA
Tidsram: J0
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J0
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To compare cardiac ultrasound prenatal data with postnatal data including pathological data (if TOP)
Tidsram: J0
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J0
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To compare the nature of chromosomal imbalances with the type of MCC
Tidsram: J0
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J0
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Samarbetspartners och utredare
Sponsor
Utredare
- Huvudutredare: Laurent Pasquier, PH, Rennes University Hospital
Studieavstämningsdatum
Studera stora datum
Studiestart
Primärt slutförande (Faktisk)
Avslutad studie (Faktisk)
Studieregistreringsdatum
Först inskickad
Först inskickad som uppfyllde QC-kriterierna
Första postat (Uppskatta)
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
Senast verifierad
Mer information
Termer relaterade till denna studie
Ytterligare relevanta MeSH-villkor
Andra studie-ID-nummer
- 2014-A01528-39
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Kliniska prövningar på Non Syndromic Congenital Heart
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