Table 8 Summary of abnormal karyotyping and PCNVS results in 71 cases

Multiplemalformations

47,XN,+ 18

arr[hg19](18 × 3)

47,XN,+ 18

arr[hg19](18 × 3)

47,XN,+ 18

arr[hg19](18 × 3)

Abnormal karyotype of couple

46,XN,del(5p15.3)

arr[hg19]5p15.33p15.31 (113,576-9,556,461)× 1

94

Mb

arr(hg19)2p21(43,718,592-44,397,329)×3

Abnormal karyotype

46,XN,del(18)

arr[hg19]18q22.1q23(63.691,770-78,031,728)×1

14.3 Mb

arr(hg19)2p21(43,718,592-44,397,329)× 3

46,XX,15P +?

arr[hg19]Yq11.23(26,527,669-27,435,790)×0

908.1Kb

Advanced maternal age

46XY/46,XX?

arr(X)×1–2, (Y)× 0–1

47,XN,+ 21

arr(21)×3

NIPT abnormal

47,XXY

arr(X)×2,(Y)× 1

arr[hg19]22q11.23(23,652,548-25,014,592)× 3

47,XN,+ 18

arr(18)×3

arr[hg19]1p13.3(109,341,997-109,811,502)× 3

47,XXY

arr(X)×2,(Y)×1,10q11.23q23.31(52,282,903-91,011,953)× 2 hmz

arr[hg19]10q21.3(68,157,444-68,394,905)×1

47,XXX

arr(X)×3

arr[hg19]Xp22.33(168,551-675,848))×0 orYp11.32(118,551-625,848)× 0

47,XN,+ 13

rr(13)× 3

47,XN,13-

?

arr[hg19]13q31.1q34(85,516,788-115,107,733)× 1

29.5 Mb

arr[hg19]15q11.2q13.1(23,290,787-28,644,578)× 1

5.6 Mb

47,XXY

arr(X)×2,(Y)× 1

47,XN,+ 18

arr(18)×3

Heart malformation

arr[hg19]22q11.21(18,648,855-21,800,471)×1

3.1 Mb

arr[hg19]Xp22.31(6,455,151-134,649)×3

arr[hg19]16q24.3(89,349,122-89,437,985)×1

88.8Kb

arr[hg19]1q21.1(145,406,787-145,760,793)×3

47,XN,+ 18

arr(18)×3

arr[hg19]4p15.33p15.31(12,959,345-18,763,119)× 3,21q22.12(36,372,117-37,794,593)× 1

47,XXX

arr(X)×3

arr[hg19]22q11.21(21,029,656-21,800,471)×1

46,Xn,der(10)t(10:11)(p13;q21)

arr[hg19]10p15.3p14(100,047-10,256,448)×1,11q22.1q25(101,095,537-134,937,416)× 3

Del

10.1 Mb dup

33.8 Mb

arr[hg19]10q21.1(55,848,908-57,027,081)×3

Hydrocyst of the neck

45,X

arr(X)×1

Fetal growth restriction

arr[hg19]4P16.3P15.32(68, 345–17, 191, 595)×1

17.1 Mb

arr[hg19]5p12p11(45,288,800-46,389,261)× 3

46,XY[67%]/46,XX[33%]

arr(X)×1–2,(Y)

Foot inversion

46,XN,der(18)t(2;18)(q36;18q23)

arr[hg19]2q36.1q37.3(221.954,949-242,782,258)×3,18q23(74.065,206-78,013,728)× 1

Dup

20.8 Mb

Del

l3.9Mb

NT > 3 mm

47,XN,+ 21

arr(21)× 3

arr[hg19]22q11.23(23,652,548-25,014,592)× 3

Nervous system abnormalities

47,XN,+ 21

arr[hg19]21q11.2q22.3(15,006,457-48,197,372)×2–3

33

Mb

arr[hg19]18p11.32p11.21(136,227-12,092,218)× 2–3

47,XN,+ 21

arr(21)×3

arr[hg19]15q26.1(90,026,321-90,186,814)× 1

arr[hg19]7q21.3q21.2(95,425,525-100,874,182)× 1

5.4 Mb

arr[hg19]6q14.1(80,827,070-80,921,191)× 1

arr[hg19]Yq11.23(26,355,104-27,224,389)×0,16p11.2(28,708,186-29,088,624)× 1

380Kb

arr[hg19]16p13.11(15,058,820–16,538,596)×3

arr[hg19]16p11.2(28,708,186-29,032,280)× 1

324Kb

arr{hg19}2q13(110,498,141-111,369,264)×1

arr[hg19]15q11.2(22,770,421–23,286,423)× 1

Urinary system abnormalities

arr[hg19]17q12(34,822,465-36,418,529)×1

1.5 Mb

arr(hg19)18q22.1(65,484,934-66,436,052)× 3

arr[hg19]17p11.2(16,736,261–20,457,631)×1

3.7 Mb

arr[hg19]17q12(34,822,465-36,404,555)×1

1.5 Mb

Cleft lip and palate

arr[hg19]15q11.2q13.1(23,290,787-28,962,791)× 1

5.3 Mb

arr[hg19]5p15.33p15.32(1,708,529-4,597,389)× 1,(X)× 1–2,(Y)×0–1

2.8 Mb

Oligohydramnios

arr[hg19]22q11.21(18,631,364-21,800,471)×1

3.1 Mb

High-riskscreening

46,XN,dup(16p11.2)

arr[hg19]Yq11.23(26,527,669-27,472,434)×0,16p11.2q24.3(33,981,749-90,080,142)× 3

56

Mb

arr[hg19]Yq11.23(26,527,669-27,472,434)×0,16p11.2q24.3(33,981,749-90,080,142)× 3

Digestive disorders

arr[hg19]15q24.1q24.2(72,930,195-75,567,135)× 1

2.6 Mb

arr[hg19]2q13q37.3(113,836,347-242,782,258)×3,22q13.2q13.33(43,689,983-51,197,766)× 1

arr[hg19]Xp11.4(38,117,808-40,223,654)×2,2q13(110,498,141-110,980,295)× 3

Polyhydramnios

arr[hg19]7q31.2(115,293,818-116,777,569)× 3

arr[hg19]1p36.22(10,327,731-10,686,262)×1

Short nasal bone

arr[hg19]12q24.33(130,475,045-132,484,803)×3

Adverse pregnancy history

arr[hg19]10q21.3(68,141,036-68,551,407)×1

FISH does not match karyotype

arr[hg19]10q23.31q23.32(90,101,722–93,091,030)×3

Pleural effusion

arr[hg19]7p21.3(11,104,500–12,669,251)×3,18q11.2(20,490,086-20,637,568)×1

arr[hg19]1q43(241,281,153-241,882,720)×3

arr(hg19)2p21(43,718,592-44,397,329)×3

Total

23

17

31