Prospective Study for Diagnosis Utility of Array-CGH Screening in Case of Non Syndromic Congenital Heart Defect in Prenatal Diagnosis (CAPA)
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Non Syndromic Congenital Heart
- Sponsor
- Rennes University Hospital
- Enrollment
- 78
- Locations
- 2
- Primary Endpoint
- Identification a significant rate of chromosomal imbalances on ACPA > 8%
- Status
- Completed
- Last Updated
- 7 years ago
Overview
Brief Summary
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.
Detailed Description
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.
Investigators
Eligibility Criteria
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.
Outcomes
Primary Outcomes
Identification a significant rate of chromosomal imbalances on ACPA > 8%
Time Frame: J0
Secondary Outcomes
- To compare rates of abnormalities identified by karyotype FISH 22q11 versus ACPA(J0)
- To compare cardiac ultrasound prenatal data with postnatal data including pathological data (if TOP)(J0)
- To compare the nature of chromosomal imbalances with the type of MCC(J0)