A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Table 1 Summarized results from FISH and GTG-banding scoring

Biological material	Treatment	Method of analyses	Results	Mosaicism [%]
Amniotic fluid	Uncultured	FISH	nuc ish(D2Z2×3)[45/150]	30
	Cultured	GTG	mos 47,XX,+mar[21]/46,XX[19]	52
Fetal skin	Uncultured	FISH	nuc ish(D2Z2×3)[84/132]	64
	Cultured	GTG	47,XX,+mar[15]/46,XX[35]	30
Placenta	Uncultured	FISH	nuc ish(D2Z2,RP11-676E9)×3[45/112]/ (D2Z2×3,RP11-676E9×2)[23/112]	40/21
	Cultured	GTG	47,XX,+mar[6]/46,XX[12]	33

GTG Giemsa trypsin G-banding, FISH fluorescence in situ hybridization, Nuc ish nuclear in situ hybridization, Mos mosaic, Mar marker chromosome

ISSN: 1755-8166