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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 typeScreening positive, nTrue-positive resultsFalse-positive resultsUnknown karyotypePPV, %TOP
45,X2131173/14(21.4)2
47,XXX63a123/4(75.0)3
47,XXY1210b1110/11(90.9)11c
47,XYY53d113/4(75.0)3
All SCAs4419141119/33(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