Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases.

Ma N, Zhu Z, Hu J, et al. Front Genet. 2023;14:1121121. Published 2023 Mar 10. doi:10.3389/fgene.2023.1121121. Open Access: Learn more

Tags: Case Report / Case Series, 2023, China, RAAs

  • “The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses. Karyotype analysis of amniocytes showed a high level (42%-50%) of mosaicism, and chromosomal microarray analysis (CMA) of uncultured amniocytes showed no copy number variation (CNV) except for large fragment loss of heterozygosity. Ultrasound findings were unmarkable except for small for gestational age… The results [of molecular testing of fetal and placental tissue samples] confirmed the presence of true fetoplacental mosaicism with levels of trisomy 9 mosaicism from 76% to normal in various tissues.”