AI 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.
Article Abstract
Objectives: Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the genetic diagnostic yield for CHDs by between 4% and 10%. The objective of this study was to evaluate the value of CMA after the prenatal diagnosis of an isolated CHD.
Methods: In a retrospective, nationwide study performed in France, we collected data on all cases of isolated CHD that had been explored using CMAs in 2015.
Results: A total of 239 fetuses were included and 33 copy number variations (CNVs) were reported; 19 were considered to be pathogenic, six were variants of unknown significance, and eight were benign variants. The anomaly detection rate was 10.4% overall but ranged from 0% to 16.7% as a function of the isolated CHD in question. The known CNVs were 22q11.21 deletions (n = 10), 22q11.21 duplications (n = 2), 8p23 deletions (n = 2), an Alagille syndrome (n = 1), and a Kleefstra syndrome (n = 1).
Conclusion: The additional diagnostic yield was clinically significant (3.1%), even when anomalies in the 22q11.21 region were not taken into account. Hence, patients with a suspected isolated CHD and a normal karyotype must be screened for chromosome anomalies other than 22q11.21 duplications and deletions.
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| http://dx.doi.org/10.1002/pd.5449 | DOI Listing |
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