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) |
- 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
- a-A screen-positive 45,X pregnant woman miscarriage and a karyotype analysis using abortion tissue found to be 45,X
- 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
- c-One case was decline and one case selected the peripheral blood karyotype analysis since maternal abnormality which is 47,XXX
- d-Three 45,X, one 47,XXX and two 47,XYY have chosen to invasive prenatal testing via BOBs rather than karyotyping