Table 2. Abnormal karyotypes detected with conventional karyotyping analysis.

Case	Karyotype	Microarray nomenclature	Phenotypic characteristics of fetuses	Pathogenicity classification	Postnatal outcome	Inheritance
1	47,XX,+21	arr[hg19](21) ×3	FGR, VSD	P	TP	de novo
2	47,XY,+21	arr[hg19](21) ×3	Absence of nasal bone	P	TP	de novo
3	47,XX,+21	arr[hg19](21) ×3	FGR,CHD	P	TP	de novo
4	47,XY,+21	arr[hg19](21) ×3	NIPT indicates high risk of trisomy 21	P	TP	de novo
5	47,XX,+13	arr[hg19](13)×3	CHD, Brain dysplasia, Orofacial clefts	P	TP	de novo
6	47, XXY	arr[hg19](1-22)×2, (XXY)×1	Hydronephrosis	P	TP	de novo
7	47, XXY	arr[hg19](1-22)×2,(XXY)×1	Echogenic bowel	P	TP	de novo
8	47,XXY	arr[hg19](1-22)×2,(XXY)×1	VSD, Echogenic bowel, FGR	P	TP	de novo
9	47,XXX	arr[hg19](X) ×3	FGR	P	TP	de novo
10	47, XY, +mar	arr[hg19]16P13.3(85,880-536,631)×1,17q24.2q25.3(64,966,574-81,041,823)×3	Ultrasound soft markers	P	TP	de novo
11	47, XY, +mar	arr[hg19]4q25q28.1(112,192,577-127,874,789)×1	Ultrasound soft markers	P	TP	de novo
12	46,XY,add16(p13.13)	arr[hg19]16p13.3(85,880-536,631)×1,17q24.2q25.3(64,966,574-81,041,823)×3	FGR	VOUS	TP	de novo
13	46,XX,add(12)(q24)	arr[hg19]11q23.2q25(113,998,447-134,937,416)×3,12q24.33(133,718,370-133,777,562) ×1	FGR	P	TP	de novo
14	46,XY,del(4)(p15)	arr[hg19]4p16.3 p15.1(68,345,431-35,252,743)×1	FGR, Nasal bone dysplasia	P	TP	de novo
15	46,XY,-21,+mar	arr[hg19]21q11.2q22.11(15,478,958-34,591,567) ×1,21q22.3(45,812,741-46,556,785) ×1,21q22.3(46,822,918-47,532,860) ×1	VSD, Bilateral ventricles widened	P	TP	de novo
16	45,X	arr[hg19](X) ×1	Posterior fossa widened	P	TP	de novo
17	46, XX, del(5)(p13)13p+	Arr[hg19]5p15.33p13.3(113,576-29, 220, 523) ×1	Dysplasia of corpus callosum	P	TP	de novo
18	47,XXX[51]/45,X[49]	arr[hg19](X)×1~2	NIPT indicates high risk of trisomy 13	P	TP	de novo
19	45,X[24]/46,XX[81]	arr[hg19](X) ×1-2	Positive on NIPT	P	TP	-
20	46,X,der(X)(Xqter→Xp22;: Xq21→Xqter)	arr[hg19]Xp22.33(168,551-2,958,480) ×1, Xq21.2q28(85,018,192-155,233,098) ×3,(XX) ×1	FGR	P	TP	de novo
21	46,XY, r i(18)(q10)[71]/ 46,XY, r idic(18)(p11q22)[6]/ 45,XY,-18 [3]	arr[hg19]18p11.32p11.31(136,227-6,010,824) ×1,18p11.31q23(6,010,999-74,605,367) ×3, 18q23 (75,171,951-78,013,728) ×1	Widened posterior fossa cistern, arachnoid cyst	P	TP	de novo
22	46,XX,r(18)(p11q22)[97]/46,XX,idic r(18)(p11q22)[13]/45,XX,-18[3]/47,XX,idic r(18)(p11q22)[2]	arr[hg19]18p11.32p11.31(136,227-3,334,683) ×1,18p11.31q22.3(3,342,699-72,722,952) ×3, 18q22.3q23 (72,723,195-78,013,728) ×1	NIPT indicates chromosome 18 is fully or partially missing	P	TP	de novo
23	46, XX, t(5;14)(p13.3;q21)14P+	arr[hg19]Xq28(152,446,333-153,581,657) ×3, 1p36.33p36.23(849,466-592,172) ×1, 1q44(246,015,892-249,224,684) ×3	Bilateral ventricles widened	P	TP	de novo
24	46,XY,r(p22q36)[86]/46,XY,dic r(7;7)(p22q36;p22q36)[4]	arr[hg19]7p22.3q36.1(43,376-149,349,749) ×2-3, 7q36.1q36.3(150,918,631-159,119,707) ×1	spinal malformation	P	TP	de novo

CHD: Congenital heart disease; FGR: fetal growth restriction; NIPT: noninvasive prenatal testing; P: pathogenic; TD: term delivery; TP: termination of pregnancy; VSD: ventricular septal defect.