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Table 2 Karyotyping in screening positive sex chromosome abnormality cases

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

SCA typeScreening positive, nBOBsKaryotypeTotal (%)declined
45,X21611a14(66.7)7
47,XXX6234(66.7)b2c
47,XXY128911(91.7)1
47,XYY5144(80.0)1
All SCAs4417c2733(75.0)11(25.0)
  1. Thirty-two of the 44 patients underwent further karyotype analysis, besides one pregnant woman who had a miscarriage underwent a postnatal diagnosis of the abortion tissue. The karyotype information is not available in 11 screening positive SCA cases which were declined
  2. a-A screen-positive 45,X pregnant woman miscarriage and a karyotype analysis using abortion tissue found to be 45,X
  3. b-One case of dual aneuploidy (trisomy 18/XXX) included where invasive prenatal testing decisions was dictated by the autosomal aneuploidy component of the result
  4. c-One case was decline and one case selected the peripheral blood karyotype analysis since maternal abnormality which is 47,XXX
  5. d-Three 45,X, one 47,XXX and two 47,XYY have chosen to invasive prenatal testing via BOBs rather than karyotyping