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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 type

Screening positive, n

BOBs

Karyotype

Total (%)

declined

45,X

21

6

11a

14(66.7)

7

47,XXX

6

2

3

4(66.7)b

2c

47,XXY

12

8

9

11(91.7)

1

47,XYY

5

1

4

4(80.0)

1

All SCAs

44

17c

27

33(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