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. 2020 Dec 1;28(Suppl 1):798–1016. doi: 10.1038/s41431-020-00741-5
Fetus A Fetus B
CASE 1
 Ultrasound1 normal fetal structure edema+increased nuchal fold+ductus agenesis
 QF-PCR(CVS) mos 90% X/10% XX mos 10% X/90% XX
 CVS-short culture 45,X -
 CVS-long culture mos 45,X[3]/46,XX[27] -
 Array(CVS) - mos 10% X/90% XX
 QF-PCR(AF) ≈ XX X
 AF-culture mos 45,X[2]/46,XX[78] 45,X[20]
 Control ultrasound normal fetal structure subcutaneous edema+ascitis
CASE 2
 Ultrasound1 normal fetal structure edema+increased NT+reverse ductus venosus
 QF-PCR(CVS) mos X/XX or XXX XX
 CVS-long culture 45,X 46,XX,+11,der(11;22)(p10;q10)
 Array(CVS) mos X/XX or XXX dup11p
 QF-PCR(AF) XX -
 Array(AF) XX -
 Control ultrasound normal fetal structure no fetal activity