False-positive NIPT results (n = 3)

Results

MA

(yrs)

GA

(wks)

BMI

(bmi)

FF

(%)

Cytogenetic

confirmation

Remark

T13

37

11

Overweight

(23.28)

20.7

46, XY

Vanishing Twin

XO

36

11 + 3

Normal

(20.59)

5.6

46, XX

Family history of aneuploidy

XO

35

17 + 1

Normal

(19.7)

9.9

46, XX

Cytogenetic variant NIPT results (n = 3)

T18

34

11 + 5

Normal

(21.9)

12.4

46, XY, psu idic (18) (p11.31)

Ultrasound result (NT 3.9 mm)

T21

41

13

Unknown

10.2

46, XY, +21, der (21; 21) (q10; q10)

Ultrasound result (NT 3.9 mm)

XO

37

16 + 5

Overweight (23.7)

7.2

46, XX, del (X) (p11.1) [24]/46, X, i (X) (q10) [6]