Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: Does increased diagnostic power outweigh the dilemma of rare variants

摘要

Sir, The Ganesamoorthy et al. publication using two high-resolution chromosomal microarray (CMA) platforms (Affyme-trix 2.7M/ Illumina Human cytoSNP-12) to analyse fetal chromosomes in 104 cases (for structural anomaly on ultrasound scan) was of interest to all involved in prenatal diagnosis. The authors examined the benefits of using high-resolution CMA in the detection of pathogenic chromosomal variants known to have a definite link to a phenotype, compared with detection of chromosomal variants of unknown significance with an uncertain link to a phenotype (VOUS). The first can inform difficult decision making, whereas the second may cause unnecessary anxiety that may extend until after the child is delivered.