Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

Table 2

CNVs identified during array CGH analysis using CytoChip oligonucleotide arrays.

Case	Sample	GA	Reason for referral	Result	Status	Inh.	Clinical significance	Array type	Karyotype	Cat	Genome build
5	AF	17	Investigation of abnormal karyotype	mos 47,XY,+mar. arr 21q11.2q21.1(13,539,832-15,716,987)x3~4,21q21.3; (27,787,566-28,368,946)x3	Dup (2.1 Mb), Dup (0.5 Mb)	De novo	Significant	105 K	47,XY,+mar	E	NCBI36/hg18
9	CVS	13	Ultrasound abnormalities/hypoplastic nasal bone	arr 7q34q35(139,107,925-145,455,647x1)dn	Del (6.3 Mb)	De novo	Significant	105 K	46,XX,del(7)(q34q35)	D	NCBI36/hg18
12	AF	18	U/S Findings/NT thickness	arr 5p14.3p14.2(22,344,207-24,523,053)x3 pat,15q25.2q25.3(81,011,096-83,478,823)x1 dn	Del (2.4 Mb), Dup (2.2 Mb)	Pat,; de novo	Significant	105 K	46,XY	A	NCBI36/hg18
29	CVS	12.2	Investigation of abnormal karyotype	47,XX,+mar/46,XX. arr 16p11.2p11.1(29,727,747-35,004,980)x2~3 dn	Dup (5.2 Mb)	De novo	Significant	105 K	47,XX,+mar/46,XX	E	NCBI36/hg18
31	AF	17	Investigation of abnormal results with MLPA	arr 22q11.21(17,274,865-19,891,492)x3 mat	Dup (2.6 Mb)	Mat	Significant	105 K	46,XY.mlpa 22q11.2(P023)x3 mat	E	NCBI36/hg18
34	CVS	13.2	U/S Findings	arr 9q34.3(139,754,208-141,102,496)x1 mat,arr 17p13.3(48,569-2,002,395)x3 mat	Del (1.35 Mb), Dup (1.95)	Mat	Significant	105 K	46,XY	A	GRCh37/hg19
36	CVS	12	U/S Findings/NT thickness	arr 7q31.1(112,763,119-113,252,118)x3 mat	Dup (0.5 Mb)	Mat	Unrelated to the RFR	180 K	46,XY	A	GRCh37/hg19
38	AF		U/S Findings/tetralogy of Fallot	arr 9q34.3(139,754,208-141,102,496)X3,17p13.3(48,569-2,002,395)X1 mat	Dup (1.35 Mb),; Del (1.95)	Mat	Significant	180 K	46,XX	A	GRCh37/hg19
42	AF	25	U/S Findings/foetal anomaly, extremities artrogryposis	arr 10p15.3(1,011,902-1,396,788)x3 pat,15q21.1(49,491,651-49,809,467)x1 mat	Dup (0.38 Mb), Del (0.32 Mb)	Pat, mat	Unrelated to the RFR	180 K	46,XX	A	GRCh37/hg19
44	AF	21	U/S Findings/foetal abnormality, cardiac anomaly	arr 5q15(95,655,383-96,003,162)x1 pat	Del (0.35 Mb)	Pat	Unrelated to the RFR	180 K	46,XX	A	GRCh37/hg19
47	AF	16	U/S findings/increased NT= 3,7 mm	arr Xp22.33(716,598-1,224,238)x3 pat	Dup (0.5 Mb)	Pat	Unrelated to the RFR	180 K	46,XY	A	GRCh37/hg19
48	CVS		U/S Findings/small-asymmetric embryo	arr 7p22.2(4,137,938-4,677,493)x3 mat	Dup (0.53 Mb)	Mat	Unrelated to the RFR	180 K	46,XY	A	GRCh37/hg19
49	AF	23.2	U/S findings/aortic arch abnormality	arr Xp22.33(2,039,059-2,275,983)x3 mat	Dup (0.24 Mb)	Mat	Unrelated to the RFR	180 K	46,XY	A	GRCh37/hg19
65	AF	25.1	U/S findings/; ventriculomegaly	arr 4q35.1(185,787,238-186,132,543)x3 mat	Dup (0.35 Mb)	Mat	Unrelated to the RFR	105 K	46,XY	A	GRCh37/hg19
52	AF	20	U/S findings/bilateral hands polydactyly	Request family analysis before final report (array CGH), pending parental testing	VOUS	N/A	N/A	180 K	46,XX	A	GRCh37/hg19
61	AF	23.4	U/S findings/cataracts, limb abnormalities/IUD	Request family analysis before final report (array CGH), pending parental testing	VOUS	N/A	N/A	105 K	46,XX	A	GRCh37/hg19
63	AF	18	U/S findings/absence of nasal bone, hypoplastic	Request family analysis before final report (array CGH), pending parental testing	VOUS	N/A	N/A	105 K	46,XX	A	GRCh37/hg19

AF: amniotic fluid, CVS: chorionic villus sample, NT: nuchal translucency, IUGR: intrauterine growth retardation, Inh.: inheritance status, U/S findings: ultrasound findings, N/A: not applicable, GA: gestational age, Cat: category; Mat: maternal, Pat: paternal, RFR: reason for referral, VOUS: variable of unclear significance, and IUD: intrauterine death.