Table 3.
Characteristic of the Fetuses with CNVs Detected by CMA
| Case | Gestational Age (Weeks) | Maternal Age (Years) | Other Ultrasonic Finding | CNVS | Relevant Genes | Pathological Significance and Syndromes Overlapping | Outcome and Postnatal Diagnosis |
|---|---|---|---|---|---|---|---|
| 1 | 32 | 26 | Hydramnios and scalp edema | arr[hg19] 15q11.2q13.3(22,770,421–33,581,245)x1, 10.8Mb | Angel man syndrome (AS) /Prader-Willisyndrome (PWS) | Survival, PWS | |
| 2 | 33 | 27 | Severe hydramnios, moderate lateral ventricle broadening, and Head circumference bigger 2SD than the mean level with the same gestational age | arr[hg19] 22q11.21(18,631,364–21,800,471)x1, 3.2Mb | HIRA (600237), TBX1 (602054) | Di George syndrome | TOP |
| 3 | 28 | 31 | Hydramnios, subependymal cysts and hyperechogenic bowel | arr[hg19] 9q34.3(140,036,539–140,612,479)x1, 576kb | EHMT1 | Kleefstra syndrome | TOP |
| 4 | 29 | 30 | Null | arr[GRCh37] 17p12(14087919_15427478)x3, 1.3Mb | PM22 | Charcot-Marie-Tooth disease | Survival, Growth and development were normal in the first two years life |
| 5 | 26 | 28 | TTTs, sIUGR and edema of umbilical cord | arr[hg19] 20p12.3(7,106,057–8,589,571)x3, 1.5Mb | HAO1, TMX4, PLCB1 | VOUS | TOP |
| 6 | 31 | 24 | Mild bilateral lateral ventricle enlargement | arr[hg19] 16p13.11p12.3(15,325,072–18,242,713)x3, 2.9Mb | 16p13.11 microduplication syndrome (VOUS) | Survival, Growth and development were normal in the first two years life |