A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma.

De Falco L, Vitiello G, Savarese G, et al. Genes (Basel). 2023;14(3):668. Published 2023 Mar 7. doi:10.3390/genes14030668. Open Access: Learn more

Tags: Case Report / Case Series, 2023, Italy, CNVs

  • Case report of 44.1 Mb 4p dup detected by NIPT at 12 weeks. Amniocentesis was performed at 18 weeks; SNP (single nucleotide polymorphism) array found a de novo2 Mb deletion on chromosome 4 near the Wolf-Hirschhorn syndrome critical region and a normal 46,XY karyotype was identified by G-banding analysis.
  • Studies of fetal and placental tissue confirmed presence of type VI true fetal mosaicism, with SNP array on 3 placental samples showing different results.