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Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

6 Jan 2023

Abstract excerpt

Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a parent or child with the 22q11.2 microdeletion or suggestive prenatal screening results. Definitive diagnosis by...

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PMID: 36672900
DOI: 10.3390/genes14010160

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