Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis

Table 1

The detection rates of pathogenic CNVs in fetuses with CNS anomalies associated with different ultrasound findings.

Ultrasound findings	Number of fetuses	Number of fetuses with pathogenic CNVs	Detection rate (%)
Isolated CNS anomaly	24	2	8.3%
Associated with other structural	22	3	13.6%
malformations
Cardiovascular system	10^#	1
Urinary system	2	0
Musculoskeletal system	6
Digestive system	1	0
Tumors	2	0
Facial anomaly/lip and palate cleft	1	1
Total	46	5	10.9%

One (Case 7) of 10 fetuses with cardiovascular abnormalities was also associated with facial anomaly, but only in the row of cardiovascular system.
The fetus (Case 4) was associated with skeletal dysplasia and lip and palate cleft, but only in the row of musculoskeletal system.