Detection of 22q11.2 microduplication by cell‐free DNA screening and chromosomal microarray in fetus with multiple anomalies

Prenatal cell‐free DNA (cfDNA) testing, or non‐invasive prenatal testing, has been shown to be capable of detecting certain microdeletion syndromes1 and has recently been extended to genome‐wide detection of subchromosomal abnormalities, including microduplications2. Here we describe a fetus with multiple structural anomalies that was diagnosed with double segmental duplications by cfDNA testing at our laboratory (Department of Genomic Medicine, Changhua Christian Hospital, Taiwan). We confirmed the cfDNA test result by chromosomal microarray (CMA) and karyotyping, and ascertained that the fetus had an unbalanced translocation inherited from a parental carrier of a balanced translocation involving t(11;22)(q23;q11.2).