TABLE 2.
Pathogenic copy number variation and LP identified by CMA in prenatal fetal microcephaly cases.
| Patient | MA | GA at the suspicion of MIC | Associated anomaly | Microarray result | Length | Type | Classification | Outcomes | Parental study |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 33.1 | 32.4 | VSD, Pulmonary atresia | arr[hg19]17p13.3p13.2(525–5874,254)×1 | 5.87 Mb | Deletion | P | TOP | de novo |
| 2 | 34.25 | 27.1 | — | arr[hg19]21q11.2q22.3(15,006,457–48,097,372)×3 | 33.09 Mb | Duplication | P | TOP | de novo |
| 3 | 28.2 | 29.7 | Macrogyria | arr[hg19]17p13.3p13.2(526–3522,432) | 3.52 Mb | Deletion | P | TOP | NA |
| 4 | 29.07 | 26.5 | Cerebellar vermis missing | arr[hg19]13q11q34(19,436,286–115,107,733)×3 | 95.67 Mb | Duplication | P | TOP | de novo |
| 5 | 25.76 | 28.2 | Callosal dysplasia | arr[hg19]17q12(34,822,465–36,378,678)×3 | 1.56 Mb | Duplication | LP | TOP | de novo |
| 6 | 24.31 | 33.21 | — | arr[hg19]Xp22.31(6885115–7775,073)×0 | 890 Kb | Deletion | P | TOP | de novo |
| 7 | 27.59 | 29.71 | VSD | arr[hg19]7q36.3(158,136,163–159,119,707)×1 | 7.87 Mb | Duplication | P | TOP | Paternally inherited |
MA, maternal age; GA, gestational age; VSD, ventricular septal defect; P, pathogenic; LP, likely pathogenic; TOP, termination of pregnancy.