Skip to main content

Table 3 Non-invasive prenatal testing performance for detection of fetal sex chromosome aneuploidy type

From: Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma

SCA type

Screening positive, n

True-positive results

False-positive results

Unknown karyotype

PPV, %

TOP

45,X

21

3

11

7

3/14(21.4)

2

47,XXX

6

3a

1

2

3/4(75.0)

3

47,XXY

12

10b

1

1

10/11(90.9)

11c

47,XYY

5

3d

1

1

3/4(75.0)

3

All SCAs

44

19

14

11

19/33(57.6)

19

  1. Of those with positive screening results for sex chromosome abnormalities, karyotypic information was available in 33 cases, and the PPV, positive predictive value of a prenatally confirmed SCA after an invasive test
  2. a-Includes a case at high risk for both trisomy 18 and XXX (true-positive for both)
  3. b-One Mosaic of 47,XXY[96]/46,XY[4]
  4. c-One 47,XXY case of negative confirmation by karyotype found to be X chromosomal microdeletions has chosen termination of pregnancy too
  5. d-One Mosaic of 47,XXY[35]/46,XY[51]
  6. Abbreviation: TOP Termination of pregnancy