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. 2025 Nov 6;25:1168. doi: 10.1186/s12884-025-08238-z

Table 6.

Summary of cases with different results from chromosome karyotype analysis and CMA

Findings on ultrasound Chromosome karyotype analysis CMA
1 NT 3.0 mm 46,XX, t(11;19)(q25;p13.1)dn Normal
2 NT 3.3 mm 46,XY, t(3;12)(q26.2;q13)dn Normal
3 NT3.5 mm 45,XY, rob(14;15)(q10;q10) Normal
4 Echogenic intracardiac focus, echogenic bowel 46,XX, t(11;22)(q25;q13.1) Normal
5 Aberrant right subclavian artery 46,XX, t(10;13)(q21.2;q32)dn Normal
6 Echogenic intracardiac focus mos45,X[2]/47,XXX[2]/46,XX[57] Normal
7 Absent nasal bone 46,XX, rob(13;21)(q10;q10),+21 arr(21)×3
8 NT 3.5 mm 46,XX, rob(13;21)(q10;q10)mat,+21 arr(21)×3
9 Tricuspid regurgitation Normal arr[GRCh37]16p13.12p13.11(14780640–16527659)x1
10 NT 3.8 mm Normal arr[GRCh37]3q29(195718751–197386180)x1
11 NT 5.3 mm Normal arr[GRCh37]16p11.2(29567296–30190029)x1
12 NT 3.4 mm Normal arr[GRCh37]16p11.2(29351826–30190029)x1
13 NT 3.2 mm Normal arr[GRCh37]15q11.2(22582283–23060000)x1
14 Absent nasal bone Normal arr[GRCh37]Xp22.31(6537109–8167604)x1
15 Tricuspid regurgitation 47,XX,+mar arr[GRCh37]12p13.33p11.23(173786-27350550)x4
16 Choroid plexus cyst Normal arr[GRCh37]16p13.11(15077292–16178545)x3
17 Choroid plexus cyst Normal arr[grch37]16p13.11(14892976–16517413)x4
18 Absent nasal bone 47,XX,+21 arr[GRCh37]17q12(36466620–37940921)x3,(21)×3