Table 2 CFMs fetuses with chromosomal aneuploidy abnormalities identified by CMA and karyotype analysis
From: Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations
| Case | Karyotype | CMA results | Craniofacial malformations | Other malformations |
|---|---|---|---|---|
| 1 | 47,XN,+13 | arr(13)×3 | CLP | Gallbladder enlargement; ES; Hyperechogenic kidneys; Strephenopodia; Small stomach bubble |
| 2 | 47,XN,+13 | arr(13)×3 | Microphthalmia, CLP | Gallbladder enlargement; DW; Hyperechogenic kidneys |
| 3 | 47,XN,+13 | arr(13)×3 | Abnormal skull shape, CLP | HPE, DK, TOF |
| 4 | 47,XN,+13 | arr(13)×3 | Lemon-shaped skull | Bilateral cerebral ventriculomegaly; SB |
| 5 | 47,XN,+13 | arr(13)×3 | CLP | – |
| 6 | NA | arr(13)×3 | Skull defect | Encephalocele |
| 7 | 47,XN,+18 | arr(18)×3 | Abnormal skull shape | HPE; absent radius; VSD; SUA |
| 8 | 47,XN,+18 | arr(18)×3 | Microtia, Abnormal pinna | CHD, CH, abnormal hand posture, SUA, polyhydramnios |
| 9 | NA | arr(18)×3 | Midface depression | Limb body wall complex |
| 10 | 47,XN,+18 | arr(18)×3 | CLP | CPC; VSD |
| 11 | 47,XN,+18 | arr(18)×3 | Strawberry-shaped skull | Overlapping hands, CPC, LPCM, SUA |
| 12 | 47,XN,+21 | arr(21)×3 | Abnormal skull shape | – |
| 13 | 45,X[32]/46,XY[3] | arr(X)×1 | CL | – |
| 14 | NA | arr(X)×1~2, (Y)×1 | Skull defect | Anencephaly; Enlarged bladder |