When CHD is detected prenatally, what genetic testing is commonly considered, especially with conotruncal anomalies?

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When CHD is detected prenatally, what genetic testing is commonly considered, especially with conotruncal anomalies?

When a fetal heart defect is found, especially conotruncal anomalies, there is a strong suspicion for submicroscopic chromosomal changes that can affect prognosis and recurrence risk. The most relevant one to look for is the 22q11.2 deletion, which is commonly associated with DiGeorge syndrome and often accompanies conotruncal heart defects. A genome-wide microarray analyzes the entire genome for copy-number changes, catching small deletions and duplications that a standard karyotype can miss. It also allows targeted testing for the 22q11.2 region within the same test, giving information essential for diagnosis and counseling. This broad, sensitive approach is preferred over a karyotype alone, which would miss such microdeletions, and over targeted FISH for a single locus, which risks missing other important CNVs. Whole-genome sequencing, while comprehensive, is not yet the routine prenatal first-line test due to interpretation challenges and broader uncertainty. So, the commonly considered testing is microarray testing including targeted testing for the 22q11 deletion.

When a fetal heart defect is found, especially conotruncal anomalies, there is a strong suspicion for submicroscopic chromosomal changes that can affect prognosis and recurrence risk. The most relevant one to look for is the 22q11.2 deletion, which is commonly associated with DiGeorge syndrome and often accompanies conotruncal heart defects.

A genome-wide microarray analyzes the entire genome for copy-number changes, catching small deletions and duplications that a standard karyotype can miss. It also allows targeted testing for the 22q11.2 region within the same test, giving information essential for diagnosis and counseling. This broad, sensitive approach is preferred over a karyotype alone, which would miss such microdeletions, and over targeted FISH for a single locus, which risks missing other important CNVs. Whole-genome sequencing, while comprehensive, is not yet the routine prenatal first-line test due to interpretation challenges and broader uncertainty.

So, the commonly considered testing is microarray testing including targeted testing for the 22q11 deletion.

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