Table 1.
Summary of array CGH analysis in 5080 cases
Cases with abnormal array CGH analysisa | Total (N) | Detection rate (%) | ||||
---|---|---|---|---|---|---|
Aneuploidy (N) | Deletion (N) | Duplication (N) | ||||
Prenatal casesb (N = 4073) | 60 | 7 | 8 | 75 | 1.8 | |
Postnatal cases (N = 1007) | PB with clinical indicationsc (N = 407) | 5 | 19 | 10 | 34 | 8.3 |
CB (N = 600) | 0 | 4 | 1 | 5 | 0.83 | |
Total | 5080 | 65 | 30 | 19 | 114 | 2.24 |
PB, Peripheral Blood; CB, Cord Blood for banking in general population
aKaryotype and FISH analyses performed with array CGH anaysis. FISH analyses were performed using specific bacterial artificial chromosome (BAC) clones.
bAF, Amniotic Fluid (N = 4033); CV, Chorionic Villi (N = 40)
cClinical indications; developmental delay, mental retardation, dysmorphic feature, multiple congenital anomalies, etc.