Clinical trial NCT02333097: Non Syndromic Congenital Heart Defect and Array-CGH in Prenatal Diagnosis
Official title: Prospective Study for Diagnosis Utility of Array-CGH Screening in Case of Non Syndromic Congenital Heart Defect in Prenatal Diagnosis (CAPA)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Non Syndromic Congenital Heart
Lead sponsor: Rennes University Hospital
Sponsor class: OTHER
First posted: 2015-01-07
Enrollment: 78
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pregnant woman whose a fetal isolated congenital heart defect is identified

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.

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.

Primary outcomes:
measure: Identification a significant rate of chromosomal imbalances on ACPA > 8%
timeFrame: J0
Secondary outcomes:
measure: To compare rates of abnormalities identified by karyotype FISH 22q11 versus ACPA
timeFrame: J0
measure: To compare cardiac ultrasound prenatal data with postnatal data including pathological data (if TOP)
timeFrame: J0
measure: To compare the nature of chromosomal imbalances with the type of MCC
timeFrame: J0
Other outcomes:
Locations:
city: Rennes
country: France
facility: Rennes University Hospital
city: St Brieuc
country: France
facility: St Brieuc University Hospital
Study officials:
affiliation: Rennes University Hospital
name: Laurent Pasquier, PH
role: PRINCIPAL_INVESTIGATOR
References: