Table 3. . Distributions of abnormal karyotype in different indications of prenatal diagnosis.
Karyotypes | Cases (n) | Indications of prenatal diagnosis | |||||||
---|---|---|---|---|---|---|---|---|---|
a | b | c | d | e | f | g | h | ||
Trisomy 21 | 203 | 30 | 48 | 35 | 175 | 1 | 0 | 0 | 0 |
Trisomy 18 | 38 | 13 | 8 | 5 | 31 | 0 | 0 | 0 | 0 |
Trisomy 13 | 3 | 1 | 0 | 0 | 2 | 0 | 1 | 0 | 0 |
Superfemale syndrome | 27 | 0 | 5 | 3 | 26 | 0 | 0 | 0 | 0 |
Supermale syndrome | 19 | 1 | 3 | 2 | 17 | 0 | 0 | 0 | 0 |
Klinefelter syndrome | 40 | 0 | 6 | 3 | 37 | 0 | 1 | 0 | 0 |
Turner syndrome | 19 | 3 | 0 | 4 | 16 | 0 | 0 | 0 | 0 |
Marker chromosome | 4 | 0 | 0 | 2 | 1 | 0 | 1 | 0 | 0 |
Translocation | 23 | 1 | 4 | 4 | 4 | 13 | 0 | 0 | 0 |
Deletion | 10 | 2 | 2 | 2 | 4 | 1 | 0 | 0 | 0 |
Inversion | 15 | 3 | 2 | 3 | 2 | 5 | 0 | 0 | 0 |
Isochromosome | 3 | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 0 |
Derivative chromosome | 16 | 2 | 1 | 2 | 7 | 6 | 0 | 1 | 0 |
Duplication | 4 | 0 | 0 | 0 | 3 | 1 | 0 | 0 | 0 |
Other | 10 | 0 | 2 | 2 | 7 | 0 | 0 | 0 | 0 |
Total | 434 | 56 | 81 | 67 | 335 | 27 | 3 | 1 | 0 |
(a) PUF group; (b) AMA group; (c) PSS group; (d) NIPT group; (e) At least one of the couple has abnormal karyotype Pregnant women requested an amniocentesis; (f) Pregnant women with adverse pregnancy and birth history; (g) Test-tube baby group; (h) Pregnant women requested an amniocentesis.