Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5 mm

Table 3

Pathogenic copy number variants (CNVs) and variants of uncertain significance (VOUS) detected by chromosomal microarray analysis (CMA).

Case	MA (years)	GA at amniocentesis or CVS (weeks)	NT (mm); CRL (cm)	CMA results	Size (Mb)	Inheritance	Gene affected or syndromes	Categorization	Pregnancy outcome
1	23	18^+2	5.1; 6.8	arr8q23.1q24.21(108,615,421-129,519,596)x1	20.904	De novo	47 OMIM, 13 morbidity	Pathogenic (unique)	TOP
2	23	17^+5	8.0; 6.1	arr 18q22.3q23(71,975,414-78,013,728)x1	6.038	De novo	17 OMIM, 3 morbidity	Likely pathogenic (unique)	TOP
3	30	19^+2	2.7; 4.6	arr 17p13.3p13.2(525-3,613,691)x1	3.613	De novo	Miller–Dieker syndrome	Pathogenic (unique)	TOP
4	31	18^+1	4.1; 4.9	arr 16p11.2(29,428,531-30,190,029)x1	0.761	De novo	16p11.2 recurrent microdeletion	Pathogenic (known)	TOP
5	23	22^+4	2.6; 5.3	arr21q11.2q22.3(15,016,486-48,093,361)x2.63; arr[hg19] 16p13.11(14,929,070-16,289,059)x3	33.1; 1.360	De novo	Trisomy 21 mosaicism; 16p13.11 recurrent microduplication	Likely pathogenic (known)	TOP
6	33	21^+5	3.3; 7.0	arr Yq11.221q11.23(19,563,599-28,799,654)x0	9.236	De novo	AZFb + AZFc	Pathogenic (unique)	TOP
7	26	18	3.7; 6.8	arr 17q12(34,822,465-36,307,773)x1	1.485	De novo	Renal cysts and diabetes syndrome (RCAD)	Pathogenic (known)	TOP
8	25	20	5.1; 6.8	arr 4q28.1q34.3(127,146,008-180,134,001)x3	52.988	De novo	112 OMIM, 29 morbidity	Pathogenic (unique)	TOP
9	36	19^+2	6.5; 6.6	arr 21q21.3(27,328,142-27,584,525)x3	0.256	Unknown	Early-onset Alzheimer’s disease with cerebral amyloid angiopathy	Pathogenic (unique)	Live birth
10	27	20^+1	3.6; 5.3	arr 22q11.21(18,631,364-21,800,471)x1	3.169	De novo	22q11 deletion syndrome	Pathogenic (known)	TOP
11	28	18^+3	4.0; 4.6	arr 1q21.1q21.2(144,494,997-148,661,621)x1	4.167	De novo	1q21.1 recurrent microdeletion	Pathogenic (known)	TOP
12	30	19	6.2; 6.5	arr 17p12(14,099,564-15,482,833)x1	1.383	Unknown	Hereditary neuropathy with liability to pressure palsies (HNPP)	Pathogenic (unique)	Live birth
13	29	18^+3	2.8; 6.4	arr Xp22.33p11.1(168,551-58,526,888)x1; arr[hg19] Xp11.1q28(58,527,154-155,233,098)x3	58.358; 96.706	De novo	46, X, i(Xq)^a	Pathogenic (unique)	TOP
14	20	20^+6	2.5; 8.0	arr 22q11.21(18,648,855-21,269,224)x3	2.620	Unknown	22q11 duplication syndrome	Pathogenic (known)	TOP
15	28	20^+3	4.1; 5.5	arr 15q26.2q26.3(96,741,626-102,429,040)x1	5.687	De novo	16 MOM, 8 morbidity	Pathogenic (unique)	TOP
16	33	25^+5	4.2; 7.0	arr 7p14.3p14.1(30,131,466-37,881,701)x1	7.750	De novo	30 MOM, 12 morbidity	Pathogenic (unique)	TOP
17	35	20^+4	6.1; 5.3	arr 8p23.3p12(158,048-29,816,429)x3; arr 18q23(74,694,541-78,013,728)x1	29.658; 3.319	Imbalance arising from a balanced parental rearrangement	8p23.1 deletion syndrome; 10 MOM, 2 morbidity	Pathogenic (known)	TOP
18	27	19	Cystic hygroma 6.2			De novo	Trisomy 22 mosaicism	Pathogenic (unique)	TOP
19	36	20	3.5; 6.0	arr 1p36.32p36.22(3,535,911-12,605,326)x1; arr 20q13.31q13.32(55,118,682-57,031,915)x1	9.069; 1.913	De novo	1p36 microdeletion syndrome; 11 MOM, 2 morbidity	Pathogenic (known)	TOP
20	31	20	3.0; 5.4	arr 1q21.1q21.2(145,895,746-147,830,830)x1; arr 22q11.21(18,648,855-21,800,471)x1	1.935; 3.152	Paternally inherited de novo	1q21.1 recurrent microdeletion; 22q11 deletion syndrome	Pathogenic (known)	TOP
21	28	12^+4	6.5; 5.5	arr 9p24.3q13(208,454-68,317,844)x4	68.109	Unknown	Tetrasomy 9p	Pathogenic (unique)	TOP
22	28	21	3.4; 6.5	arr 3p13p12.3(72,095,812-74,590,486)x1	2.4	De novo	7 OMIM	VOUS	Live birth

AF: amniotic fluid; NT: nuchal translucency; TOP: termination of pregnancy; VOUS: variants of uncertain significance; CRL: crown-rump length. ^aFurther confirmed by karyotype analysis.