Non Syndromic Congenital Heart Clinical Trial
Official title:
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.
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.
;