Table 2 Summary of the CdCS cases with pure terminal 5p deletion from the literature compared to the 6 cases in our cohorta
Prenatal ultrasound signs | Previously reported(n = 30) | Our group(n = 6)) | Total |
|---|---|---|---|
Increased NT/NF | 2/30 | 1/6 | 3/36 |
IUGR | 1/30 | 0/6 | 1/36 |
Aplasia/Hypoplasia of the cerebellum | 7/30 | 2/6 | 9/36 |
Abnormality of the cerebral ventricles | 7/30 | 0/6 | 7/36 |
Absent/severely hypoplastic nasal bone | 2/30 | 0/6 | 2/36 |
Choroid plexus cyst | 4/30 | 1/6 | 5/36 |
Single umbilical artery | 4/30 | 0/6 | 4/36 |
VSD | 3/30 | 0/6 | 3/36 |
Hydrops fetalis | 3/30 | 0/6 | 3/36 |
Ascites | 3/30 | 0/6 | 3/36 |
Encephalocele | 1/30 | 0/6 | 1/36 |
Others | |||
 Abnormal serum markers (β-hCG, PAPP-A) | 7/30 | 1/6 | 8/36 |
 AMA without abnormal US finding | 3/30 | 0/6 | 3/36 |