Publications by authors named "Sylvie Redon"
Article Synopsis
- The study aimed to assess the effectiveness of chromosome microarray (CMA) testing in detecting genetic issues in fetuses diagnosed with isolated congenital heart defects (CHDs) after prenatal diagnosis.
- An analysis of 239 fetuses revealed 33 copy number variations (CNVs), with 19 being pathogenic, suggesting a 10.4% overall detection rate of anomalies, which varied by specific CHD type.
- The findings indicate that CMA offers a clinically significant increase in diagnostic yield (3.1%), emphasizing the need for testing beyond just the common 22q11.21 chromosomal abnormalities for isolated CHD cases.
