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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02333097

Acronym

CAPA

Enrollment

Registered

2015-01-07

Start date

2015-01-31

Completion date

2018-12-31

Last updated

2019-01-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Non Syndromic Congenital Heart

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

18 Years to No maximum

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame
Identification a significant rate of chromosomal imbalances on ACPA > 8%	J0

Secondary

Measure	Time frame
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
To compare rates of abnormalities identified by karyotype FISH 22q11 versus ACPA	J0

Countries

France

Outcome results