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Table 2 Summary of the CdCS cases with pure terminal 5p deletion from the literature compared to the 6 cases in our cohorta

From: Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Prenatal ultrasound signsPreviously reported(n = 30)Our group(n = 6))Total
Increased NT/NF2/301/63/36
IUGR1/300/61/36
Aplasia/Hypoplasia of the cerebellum7/302/69/36
Abnormality of the cerebral ventricles7/300/67/36
Absent/severely hypoplastic nasal bone2/300/62/36
Choroid plexus cyst4/301/65/36
Single umbilical artery4/300/64/36
VSD3/300/63/36
Hydrops fetalis3/300/63/36
Ascites3/300/63/36
Encephalocele1/300/61/36
Others
 Abnormal serum markers (β-hCG, PAPP-A)7/301/68/36
 AMA without abnormal US finding3/300/63/36
  1. -aData collected from the 30 prenatal cases with pure distal 5p deletion from 24 studies (Additional file 1: Table S1). IUGR Intrauterine growth retardation, VSD Ventricular septal defect, AMA Advanced maternal age, US Ultrasound.