Table 4 Fetal autosomal aneuploidy true positive cases for NIPT.

NIPT

Case 1

T16

36

CVS

arr[hg19] 16p13.3p12.3(94,807 − 20,551,431)×2 hmz, 16q23.3q24.3(84,010,949-

90,146,366)×2 hmz

(-)

UPD

/

Fetal death in the uterus

Case 2

T16

35

CVS

arr(16)×2–3

mos47,XN,+16(4)/46,XN(17)

/

FGR

TPO

Case 3

T14

31

CVS

arr[hg19] 14q11.2q13.3(20,520,197 − 37,350,812)×2 hmz

14q24.2q32.33(70,758,466 − 104,240,618)×2 hm

(-)

UPD

FGR

Live birth

Case 4

T22

24

CVS

arr(22)×2–3(25%)

mos47,XN,+22(4)/46,XN(17)

/

/

Live birth

Case 5

T20

32

CVS

arr(20)×3

47,XN,+20

/

/

Miscarriage

Case 6

T16

31

CVS

arr(16)×2–3(ratio:34%)

/

TPO

Case 7

T16

29

CVS

arr(16)×2–3(ratio:10%)

mos47,XN,+16(4)/46,XN(39)

/

Fetal cerebral ventriculomegaly L9.1 mm/R 9.0 mm in 22 week

TPO

Expanded NIPT

Case 8

T7

38

CVS

arr(7)×2–3(10%)

mos 47,XN,+7(2)/46,XN(16)

/

/

TPO

Case 9

T7

31

CVS

arr(7)×2–3(10%)

mos 47,XN,+7(2)/46,XN(18)

/

/

TPO

Case 10

T7/T11/T20

33

CVS

arr(7)×2–3(10%)

46,XN

/

/

Live birth

Case 11

T20

40

CVS

(-)

mos 47,XN,+20(2)/46,XN(22)

/

/

Continue pregnancy

Case 12

T8

31

CVS

(-)

mos 47,XN,+8[2]/46,XN[32]

/

/

Live biirth