Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

Introduction: Circulating fetal cells isolated from maternal blood can be used for prenatal testing, representing a safe alternative to invasive testing. The present study investigated the potential of cell-based noninvasive testing (NIPT) diagnosing monogenic disorders dependent on mode inheritance. Methods: Maternal samples were collected women opting diagnostics specific ( N = 7). Fetal trophoblasts enriched and stained using magnetic activated cell sorting by fluorescens single-cell sorting. Individual subject whole genome amplification, origin identified DNA-profiling short tandem repeat markers. amplified DNA was input genetic autosomal dominant-, recessive-, X-linked expansion direct variant analysis haplotyping. NIPT results compared with those Results: In two cases at risk skeletal dysplasia, caused variants in FGFR3 gene (autosomal dominant disorders), correctly stated an affected fetus, but allelic dropout normal alleles observed both cases. Cell-based gave accurate result recessive disorders, where parents carried either different diastrophic dysplasia causing SLC26A2 or same cystic fibrosis disease-causing CFTR gene. accurately male fetus pregnancy Duchenne muscular dystrophy DMD gene, disorders). myotonic type 1 DMPK disorder), detected unaffected respectively. Discussion: detect maternally- paternally inherited irrespective variant, however, must considered. We conclude that clinical interpretation thus varies depending disorders’