1 | CV | 35 | 12 | AMA | mos 47,XY,+7[8]/46,XY[12] | 40% | (-) | (-) | arr(7)×2–3 | Live born |
2 | CV | 31 | 12 | Increased NT | mos 45,X[8]/46,XY[14] | 36% | (-) | (-) | arr(Y)×0–1 | Live born |
3 | CV | 32 | 11 | Maternal carrier of abnormal chromosome | mos 46,XY,t(1;10)(q23;q22.3)[3]/46,XY[12] | 20% | (-) | (-) | (-) | Live born |
4 | CV | 27 | 12 | Increased NT | mos 47,XX,+20[2]/46,XX[15] | 13% | (-) | (-) | (-) | Live born |
5 | CV | 32 | 12 | Increased NT | mos 45,X[4]/46,XY[16] | 20% | (-) | (-) | (-) | Live born |
6 | CV | 27 | 13 | Increased NT,cystic hygroma | mos 46,XX,inv(9)(p12q13),+21,der(21;21)(q10;q10)[2]/46,XX,inv(9)(p12q13)[20] | 9% | (-) | (-) | (-) | TOP |
7 | CV | 41 | 13 | AMA | mos 45,X[5]/46,XX[20] | 20% | (-) | (-) | (-) | Live born |
8 | AF | 27 | 22 | abnormal NIPT | mos 45,X[7]/46,XX[15] | 32% | NA | (-) | arr(X)×1–2 | TOP |
9 | AF | 34 | 23 | abnormal NIPT,AMA | mos 45,X[2]/46,XX[18] | 10% | NA | (-) | (-) | Live born |
10 | AF | 42 | 19 | AMA | mos 47,XY,+20[4]/46,XY,[20] | 17% | (-) | (-) | (-) | TOP |
11 | AF | 35 | 24 | abnormal ultrasound findings | mos 47,XX,+mar[8]/46,XX[16] | 33% | (-) | (-) | (-) | Live born |
12 | AF | 28 | 16 | Increased NT | mos 46,XY,i(20)(q10)[14]/46,XY[14] | 50% | (-) | (-) | arr(20q)×2–3,arr(20p)×1–2 | Live born |
13 | AF | 35 | 21 | abnormal NIPT,AMA | mos 45,X[6]/46,XX[21] | 22% | (-) | (-) | (-) | Live born |
14 | AF | 38 | 24 | AMA | mos 47,XX,+mar[3]/46,XX[23] | 12% | NA | (-) | (-) | Live born |
15 | AF | 43 | 18 | AMA | mos 47,XXX[5]/45,X[2]/46,XX[13] | 35% | (-) | (-) | (-) | NA |
16 | AF | 34 | 19 | Paternal carrier of abnormal chromosome | mos 45,X[3]/46,XX[24] | 11% | (-) | (-) | (-) | Live born |
17 | AF | 34 | 20 | abnormal NIPT | mos 45,X[4]/46,XX[11] | 27% | (-) | (-) | (-) | TOP |
Table 1.Clinical information of cases with mosaic karyotype and normal SNP-array (continue) |
NO. | Samples | MA | GA | Clinical Indications | Karyotype | mosaic rate(%) | QF-PCR | uncultured SNP-array | cultured SNP-array | Prognosis |
18 | AF | 27 | 25 | abnormal serum screening | mos 45,X[5]/46,XY[20] | 25% | NA | (-) | (-) | TOP |
19 | AF | 42 | 19 | AMA | mos 45,X[8]/46,XY[16] | 33% | probable mosaicism with X/XY | (-) | (-) | Live born |
20 | AF | 40 | 18 | abnormal serum screening | mos 45,X[6]/46,XY[16] | 27% | (-) | (-) | (-) | TOP |
21 | AF | 28 | 24 | abnormal ultrasound findings | mos 47,XY,+20[3]/46,XY[25] | 12% | (-) | (-) | (-) | Live born |
22 | AF | 44 | 22 | abnormal NIPT,AMA | mos 47,XY,+mar[11]/46,XY[21] | 33% | (-) | (-) | (-) | Live born |
23 | AF | 34 | 18 | Increased NT | mos 45,X[2]/46,XX[13] | 13% | (-) | (-) | (-) | TOP |
24 | AF | 37 | 18 | abnormal serum screening,AMA | mos 47,XY,+12[2]/46,XY[26] | 7% | (-) | (-) | (-) | TOP |
25 | AF | 30 | 20 | Increased NT,history of poor pregnancy outcome | mos 47,XX,+20[3]/46,XX[22] | 12% | (-) | (-) | (-) | TOP |
26 | AF | 39 | 18 | AMA,history of poor pregnancy outcome | mos 45,X[4]/46,XY[16] | 20% | (-) | (-) | (-) | NA |
27 | AF | 27 | 17 | abnormal serum screening and NIPT | mos 45,X[3]/46,XY[30] | 9% | (-) | (-) | (-) | Live born |
28 | AF | 23 | 24 | bad procreation history | mos 45,X[9]/46,XX[16] | 36% | NA | (-) | (-) | Live born |
29 | AF | 25 | 19 | abnormal NIPT | mos 46,X,del(X)(q21)[2]/45,X[2]/46,XX[30] | 12% | probable mosaicism with X/XX | (-) | (-) | Live born |
30 | AF | 22 | 18 | abnormal NIPT | mos 45,X,14p+[4]/46,XY,14p+[23] | 15% | probable mosaicism with X/XY | (-) | (-) | Live born |
31 | AF | 33 | 19 | abnormal serum screening,history of poor pregnancy outcome | mos 45,X[2]/46,XY[46] | 4% | (-) | (-) | (-) | Live born |
32 | AF | 40 | 19 | AMA | mos 45,X[9]/46,XX[22] | 29% | (-) | (-) | (-) | TOP |
33 | AF | 25 | 18 | abnormal serum screening | mos 45,X[4]/46,XY[24] | 14% | (-) | (-) | (-) | Live born |
34 | AF | 35 | 19 | AMA | mos 46,XX,del(19)(p13.1)[3]/46,XX[27] | 10% | (-) | (-) | (-) | Live born |
35 | AF | 30 | 18 | abnormal NIPT | mos 46,XX,i(20)(q10)[2]/46,XX[32] | 6% | (-) | (-) | (-) | Live born |
Table 1.Clinical information of cases with mosaic karyotype and normal SNP-array (continue) |
NO. | Samples | MA | GA | Clinical Indications | Karyotype | mosaic rate(%) | QF-PCR | uncultured SNP-array | cultured SNP-array | Prognosis |
36 | AF | 28 | 18 | abnormal NIPT | mos 45,X[3]/46,XX[47] | 6% | (-) | (-) | (-) | Live born |
37 | AF | 32 | 19 | abnormal NIPT | mos 45,X[9]/46,XX[13] | 41% | probable mosaicism with X/XX | (-) | arr(X)×1–2 | Live born |
38 | AF | 31 | 24 | abnormal ultrasound findings | mos 45,X[6]/46,XY[38] | 14% | (-) | (-) | (-) | Live born |
39 | AF | 26 | 21 | abnormal serum screening | mos 45,X[4]/46,X,Yqs[24] | 14% | (-) | (-) | (-) | TOP |
40 | AF | 28 | 21 | abnormal NIPT | mos 45,X[6]/46,XY[26] | 19% | (-) | (-) | (-) | NA |
41 | AF | 44 | 20 | AMA | mos 45,X[3]/46,XY[29] | 9% | (-) | (-) | (-) | NA |
42 | AF | 29 | 17 | abnormal NIPT | mos 45,X[3]/46,XX[32] | 9% | (-) | (-) | (-) | NA |
43 | CB | 32 | 32 | abnormal ultrasound findings | mos 45,XY,der(13;14)(q10;q10)[26]/46,XY[74] | 26% | (-) | (-) | (-) | NA |
44 | CB | 36 | 29 | abnormal ultrasound findings,AMA,abnormal serum screening | mos 47,XY,+21[2]/46,XY[98] | 2% | NA | (-) | (-) | NA |
45 | CB | 32 | 25 | history of poor pregnancy outcome | mos 46,XX,t(5;19)(q11.1;q12)dn[90]/46,XX[10] | 90% | NA | (-)a | NA | Live born |
46 | CB | 44 | 28 | abnormal ultrasound findings,AMA | mos 47,XY,+9[2]/46,XY[98] | 2% | NA | (-) | (-) | TOP |
47 | CB | 28 | 35 | abnormal ultrasound findings | mos 47,XXX[4]/46,XX[96] | 4% | (-) | (-) | (-) | TOP |
48 | CB | 28 | 30 | abnormal ultrasound findings | mos 46,XY,add(16)(p13.3)[9]/46,XY[91] | 9% | NA | (-) | (-) | TOP |
49 | CB | 26 | 27 | abnormal ultrasound findings | mos 47,XX,+21[4]/46,XX[96] | 4% | NA | (-) | (-) | Live born |
50 | CB | 40 | 26 | abnormal NIPT,AMA | mos 45,X,16qh+[10]/46,XY,16qh+[90] | 10% | NA | (-) | (-) | Live born |
51 | CB | 21 | 32 | abnormal ultrasound findings | mos 47,XY,+20[2]/46,XY[98] | 2% | (-) | (-) | (-) | Live born |
52 | CB | 23 | 32 | abnormal ultrasound findings | mos 47,XY,+mar[89]/46,XY[11] | 89% | (-) | (-)b | NA | Live born |
53 | CB | 22 | 29 | abnormal ultrasound findings,abnormal serum screening | mos 45,X[3]/46,XX[97] | 3% | (-) | (-) | (-) | Live born |
Table 1.Clinical information of cases with mosaic karyotype and normal SNP-array (continue) |
NO. | Samples | MA | GA | Clinical Indications | Karyotype | mosaic rate(%) | QF-PCR | uncultured SNP-array | cultured SNP-array | Prognosis |
54 | CB | 29 | 28 | abnormal ultrasound findings | mos 47,XY,+8[13]/46,XY[87] | 13% | NA | (-) | (-) | TOP |
55 | CB | 23 | 26 | abnormal NIPT | mos 45,X[3]/46,XX[97] | 3% | NA | (-) | (-) | Live born |
56 | CB | 32 | 32 | abnormal ultrasound findings,abnormal serum screening | mos 47,XXY[5]/46,XY[95] | 5% | NA | (-) | (-) | Live born |