TABLE 3.

Recent findings using nanopore sequencing and the related findings in prenatal diagnostic testing.

Sequencing technology	Focus/finding	Reference	Year
ONT—MinION	Development of short-read transpore rapid karyotyping (STORK) for genome-wide aneuploidy detection	Wei et al. (2022)	2022
ONT—GridION	Rapid detection of trisomy 8, 13, and 21 and focal deletion in 22q	Bartalucci et al. (2019)	2019
ONT—PromethION	Resolving of SVs affecting the Prader–Willi syndrome locus	Deest et al. (2022)	2022
ONT—PromethION	Accurate categorization between non-translocation embryos and translocation carrier embryos and precisely localizing the translocation breakpoints	Xia et al. (2023)	2023
ONT—MinION	Parental haplotype reconstruction and characterization of balance or imbalance wild-type and mutant alleles in maternal plasma	Jiang et al. (2021)	2021