NIPT with the analysis of all chromosomes for aneuploidy screening. Chromosomal microarray 750K, routine karyotyping and Whole-exome sequencing and Sanger sequencing were used for the analysis of the clinical situation Sonographic fetal abnormalities were accompanied by the placental mosaicism (trisomy 16), fetal partial uniparental disomy of the short arm of chromosome 16. NIPT with the analysis of all chromosomes is a powerful tool to identify placental mosaicism, which in turn can manifest itself as nonspecific abnormalities in biochemical markers, placental dysfunction, growth retardation, fetal malformations, preterm birth, etc. If placental mosaicism is suspected, the optimal clinical strategy is to perform amniocentesis and placentocentesis simultaneously with a complete genetic examination of the obtained material.
Keywords: NIPT; Placental mosaicism; chromosomal microarray analysis; congenital malformations; karyotyping; pregnancy planning.