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

Table 2

Pathogenic CNVs and variants of unknown significance detected by chromosomal microarray analysis (CMA) in fetuses with CNS anomalies.

Case number	GA	CNS anomalies	Associated anomalies	CMA result	Size (Mb)	CNV type	OMIM or corresponding disorder
1	23+	Holoprosencephaly, single nostril	No	arr7q36.; (155,473,296–158,909,738) × 1	3.44	Loss	SHH gene (600725)
2	22+	Hydrocephaly	No	arr22q11.21; (18,648,855–21,800,471) × 3	3.15	Gain	22q11.2 duplication syndrome (^#608363)
3	25+	Dandy-Walker syndrome	VSD; PLSVC	arr2q13q14.1; (111,596,906–114,844,660) × 1	3.25	Loss	PAX8 (167415); IL1B (147720); MERTK (604705); IL1RN (147679)
4	23+	Dandy-Walker syndrome	Skeletal dysplasia; lip and palate cleft; absence of septum pellucidum; arachnoid cyst	arrXq13.3; (74,171,888–74,343,340) × 1	0.17	Loss	ABC7 (300135)
5	23+	Holoprosencephaly	Lip and palate cleft	arr2p21; (44,749,075–45,098,283) × 1	0.34	Loss	SIX 3 gene (603714)
6	21+	Exencephaly	No	arr19p12p13.11; (19,838,485–23,868,512) × 1	4.03	Loss
7	24+	Holoprosencephaly	VSD; facial anomaly	arr4q35.2; (187,979,723–190,767,114) × 1	2.79	Loss
8	25+	Hydrocephaly	Thickened NF; IUGR; sacrococcygeal vertebral anomaly	arr 21q21.1; (22,508,434–23,663,338) × 1	1.15	Loss

GA, gestational weeks; VSD, ventricular septal defect; PLSVC, persistent left superior vena cava; NF, nuchal fold; IUGR, intrauterine growth retardation.
Human genome build was hg19.