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

From: Application of chromosome microarray analysis in prenatal diagnosis

Prenatal diagnostic indications Chromosome results PCNVS results Interpretation VOUS results
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
  1. In each case, karyotype analysis and CMA testing were performed simultaneously. Aneuploidy, abnormal structural abnormalities and chimeras detected by chromosome and CMA were classified as chromosomal abnormalities. Only microdeletions and microduplications detected by CMA were classified as pathogenic copy number variations
  2. Some karyotypes are written with XN (where N = X or Y), as sex of the fetus was not disclosed on prenatal reports
  3. PCNVs Pathogenic copy number variations, VOUS Variant of uncertain significance