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Microarrays are increasingly requested as a first-line genetic investigation for chromosome anomalies in the neonatal population. Consent is usually taken by paediatricians, frequently trainees, often without specific training in how to consent for genetic tests. Unlike in the paediatric population,1 there are no consensus guidelines on the indications for neonatal microarray testing. Our local guideline recommends microarray testing in babies with multiple congenital anomalies or ambiguous genitalia. However, studies have also suggested the utility of microarray testing in congenital heart disease2 and intrauterine growth restriction (IUGR) without congenital anomalies.3
Informed genetic consent needs to cover prognostication (most pathogenic copy number variants (CNVs) are associated with a significant risk of learning disability); potential implications for family members; incidental findings and the risk of identifying variants of uncertain significance (VUS).
We conducted a retrospective study on …
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