Abstract

Conventional cytogenetic analysis of products of conception (POC) is of limited utility because of failed cultures, microbial contamination, and maternal cell contamination (MCC). Optical genome mapping is an emerging alternative to conventional cytogenetic methods but is limited to the need for ultra-high molecular weight DNA. Single nucleotide polymorphism (SNP) microarray has demonstrated higher performance compared to routine karyotype, but a high incidence of MCC precludes a valid clinical diagnosis.

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