Non Syndromic Congenital Heart Defect and Array-CGH in Prenatal Diagnosis

Completed

• Conditions: Non Syndromic Congenital Heart

• Registration Number: NCT02333097
• Lead Sponsor: Rennes University Hospital

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.

Study Timeline

• Study First Submitted: 2014-12-29
• Study Start: 2015-01
• Study First Submitted QC: 2015-01-05
• Study First Posted: 2015-01-07
• Primary Completion: 2018-08
• Study Completion: 2018-12
• Status Verified: 2019-01
• Last Update Submitted: 2019-01-25
• Last Update Posted: 2019-01-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 78

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification a significant rate of chromosomal imbalances on ACPA > 8%	J0

Secondary Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (2)

St Brieuc University Hospital; 🇫🇷 St Brieuc, France

Rennes University Hospital; 🇫🇷 Rennes, France