Table 4 Discordant chromosomal results in fetuses with RAAs
Case | MA | GA | Clinical manifestation | NIPS result | CMA result | Karyotyping/FISH result | Outcome |
|---|---|---|---|---|---|---|---|
5 | 32 | 14 | Adverse pregnancy history | – | CVS: arr(2) × 3[0.23] AF: Normal (CMA) | AF: Normal (Karyotyping) | Normal, Liveborn |
14 | 40 | 12 | AMA; adverse pregnancy history | – | AF: arr(5) × 3[0.6] | CVS: Normal (Karyotyping) AF: Normal (Karyotyping) | Normal, Liveborn |
15 | 32 | 13 | High risk of MSS | – | CVS: arr(7) × 3[0.15] AF: Normal (CMA) | CVS: Normal (Karyotyping) AF: Normal (Karyotyping) | Premature delivery |
19 | 38 | 19 | AMA | Increased chr7 | AF: arr(7) × 3[0.1] | AF: Normal (Karyotyping) | TOP |
47 | 28 | 21 | AMA; adverse pregnancy history | – | AF: arr(15) × 3[0.44] | AF: Normal (Karyotyping) | TOP |
48 | 34 | 20 | – | Increased chr15 | AF: arr(15) × 3[0.1] | AF: Normal (Karyotyping) | TOP |
56 | 29 | 19 | High risk of MSS; | Increased chr16 | AF: arr(16) × 3[0.1] | AF: Normal (Karyotyping) | TOP |
65 | 36 | 12 | AMA; adverse pregnancy history; parental thalassemia | – | CVS:arr(16) × 3[0.15] AF: Normal (CMA) | AF: Normal (Karyotyping) AF: Normal (FISH) | Normal, Liveborn |
76 | 37 | 16 | IUGR | Increased chr22 | AF: arr(22) × 3[0.1] | AF: Normal (Karyotyping) | TOP |
77 | 25 | 16 | AMA; high risk of MSS | Increased chr22 | AF: arr(22) × 3[0.25] | AF: Normal (Karyotyping) | Normal, Liveborn |
82 | 31 | 14 | Thicken NT | – | CVS: arr(22) × 3[0.4] AF: arr[GRCh37] 21q21.1q21.3(19314275_27775306)x1dn | AF: 45,XN,psu dic(22;21) (p12;q22)del(21)(q21q21)dn | Normal, Liveborn |