Table 4.
Findings in Pregnancies with SCAs Predicted by NIPT
| Case | SCA | Maternal Age | Routine Screen texts | BOBs | Fetal Karyotype | Maternal Karyotype | Pregnancy Outcome |
|---|---|---|---|---|---|---|---|
| 1 | 45,X | 36 | Normal | ND | 46,XX | ND | Normal female |
| 2 | 45,X | 32 | T21 1/996 | 46,XX | 46,XX | ND | Normal female |
| 3 | 45,X | 27 | NT 2.7 mm | 45,X | ND | ND | TOP |
| 4 | 45,X | 38 | Normal | ND | 46,XY | ND | Miscarriage |
| 5 | 45,X | 34 | Normal | ND | 46,XX | 46,XX | Normal female |
| 6 | 45,X | 31 | T21 1/615 | 46,XX | 46,XX | ND | Normal female |
| 7 | 45,X | 29 | T21 1/895 | Declined | Declined | ND | Unknown |
| 8 | 45,X | 35 | Normal | ND | 46,XX | ND | Normal female |
| 9 | 45,X | 34 | Normal | Declined | Declined | ND | Unknown |
| 10 | 45,X | 30 | NT 5.4 mm pleural effusion | ND | 45,X | ND | TOP |
| 11 | 45,X | 36 | Normal | Declined | Declined | ND | Unknown |
| 12 | 45,X | 30 | NT 7.7 mm | ND | ND | ND | Unknown |
| 13 | 45,X | 31 | T21 1/424 | ND | ND | ND | Unknown |
| 14 | 45,X | 27 | T21 1/252 | ND | POC 45,X | ND | Miscarriage |
| 15 | 45,X | 31 | T21 1/758 | ND | 46,XX | ND | Unknown |
| 16 | 45,X | 33 | hypertension | 46,XX | ND | ND | Unknown |
| 17 | 45,X | 32 | Normal | Declined | Declined | ND | Unknown |
| 18 | 45,X | 39 | Normal | Declined | Declined | ND | Unknown |
| 19 | 45,X | 34 | NT 2.1 mm | 46,XX | ND | ND | Unknown |
| 20 | 45,X | 34 | Normal | ND | 46,XX | ND | Unknown |
| 21 | 45,X | 33 | T21 1/911 | 46,XX | 46,XX | ND | Unknown |
| 22 | XXX | 37 | Suspected XXX | Declined | Declined | 47,XXX | Normal female |
| 23 | XXX/T18 | 35 | Normal | mos 47,XXX, dup(18)(q12–22)/47,XXX | mos 47,XXX[74]/47,XX,+ 18[26] | ND | TOP |
| 24 | XXX | 36 | Normal | Declined | Declined | ND | Normal female |
| 25 | XXX | 33 | T21 1/460 | ND | 46,XY | ND | Normal male |
| 26 | XXX | 34 | Normal | ND | 47,XXX | ND | TOP |
| 27 | XXX | 28 | T21 1/429 NT 2.4 mm | 47,XXX | ND | ND | TOP |
| 28 | XXY | 34 | Normal | ND | 47,XXY | ND | TOP |
| 29 | XXY | 37 | Normal | ND | 47,XXY | ND | TOP |
| 30 | XXY | 39 | Fetal death history | 47,XXY | 47,XXY | ND | TOP |
| 31 | XXY | 36 | Normal | Normal | 46,X,del(X)(p22.2) | ND | TOP |
| 32 | XXY | 44 | Normal | 47,XXY | 47,XXY | ND | TOP |
| 33 | XXY | 36 | Normal | 47,XXY | 47,XXY | ND | TOP |
| 34 | XXY | 22 | T21 1/460 | 47,XXY | 47,XXY[96]/46,XY[4] | ND | TOP |
| 35 | XXY | 37 | Normal | 47,XXY | 47,XXY | ND | TOP |
| 36 | XXY | 35 | Normal | 47,XXY | ND | ND | TOP |
| 37 | XXY | 25 | Fetal death history | ND | Declined | ND | Unknown |
| 38 | XXY | 26 | Normal | ND | 47,XXY | ND | TOP |
| 39 | XXY | 34 | Normal | 47,XXY | ND | ND | TOP |
| 40 | XYY | 35 | Fetal death history | Declined | Declined | ND | Normal male |
| 41 | XYY | 34 | Normal | XXY/XY | 47,XXY[35]/46,XY[51] | ND | TOP |
| 42 | XYY | 31 | T21 1/926 | ND | 46,XX | ND | Normal female |
| 43 | XYY | 38 | Hypertension | ND | 47,XYY | ND | TOP |
| 44 | XYY | 34 | NT 3.8 mm | ND | 47,XYY | ND | TOP |
Abbreviations: NT Nuchal translucency, ND Not done, POC Products of conception