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

Non Syndromic Congenital Heart Clinical Trial

— CAPA  

Official title:

Prospective Study for Diagnosis Utility of Array-CGH Screening in Case of Non Syndromic Congenital Heart Defect in Prenatal Diagnosis (CAPA)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02333097
• Other study ID #: 2014-A01528-39
• Status: Completed
• Start date: January 2015
• Est. completion date: December 2018

Study information

• Verified date: January 2019
• Source: Rennes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 78
• Est. completion date: December 2018
• Est. primary completion date: August 2018
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Heart Defects, Congenital
• Non Syndromic Congenital Heart

Locations

Country	Name	City	State
France	Rennes University Hospital	Rennes
France	St Brieuc University Hospital	St Brieuc

Sponsors (1)

Lead Sponsor	Collaborator
Rennes University Hospital

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification a significant rate of chromosomal imbalances on ACPA > 8%		J0
Secondary	To compare rates of abnormalities identified by karyotype FISH 22q11 versus ACPA		J0
Secondary	To compare cardiac ultrasound prenatal data with postnatal data including pathological data (if TOP)		J0
Secondary	To compare the nature of chromosomal imbalances with the type of MCC		J0