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. 2022 Dec 23;13(1):48. doi: 10.3390/diagnostics13010048

Table 1.

Increased Nuchal Translucency and Genetic Testing-systematic review.

Nuchal Translucency
Reference Dimension
(mm)		 Association Yield (Incremental)
Karyotype CMA RASopathy Panel ES
[47] 2.5–2.9 unspecified 8/134
(5.97%)		 3/126
(2.38%)		 . .
3.0–3.4 unspecified 8/146
(5.48%)		 2/138
(1.45%)		 . .
3.5–4.4 unspecified 23/140
(16.43%)		 7/117
(5.98%)		 . .
4.5–5.4 unspecified 7/32
(21.88%)		 0/25
(0.00%)		 . .
5.5–6.4 unspecified 7/13
(53.85%)		 1/6
(16.67%)		 . .
≥6.5 unspecified 18/34
(52.94%)		 2/16
(12.50%)		 . .
[48] 3.0–3.4 unspecified 15/110
(13.64%)		 3/60
(5.00%)		 . .
3.5–4.4 unspecified 28/83
(33.74%)		 3/37
(8.11%)		 . .
4.5–5.4 unspecified 18/40
(45.00%)		 1/40
(2.50%)		 . .
5.5–6.4 unspecified 12/30
(40.00%)		 . . .
6.5–7.4 unspecified 9/21
(42.86%)		 . . .
≥7.5 unspecified 21/35
(60.00%)		 . . .
≥4.5 unspecified 60/126
(47.62%)		 1/40
(2.50%)		 . .
[49] ≥3.5 apparently isolated . . 2/73
(2.74%)		 2/71
(2.82%)
[50] ≥2.5 unspecified 18/192
(9.38%)		 . . .
2.5–3.4 apparently isolated . 2/119
(1.68%)		 . .
2.5–3.4 associated . 0/15
(0.00%)		 . .
≥3.5 apparently isolated . 1/43
(2.33%)		 . .
≥3.5 associated . 2/12
(16.67%)		 . .
[51] ≥3.5 apparently isolated . 1/39
(2.56%)		 . .
[52] ≥3.5 apparently isolated 134/362
(37.02%)		 1/229
(0.44%)		 . .
[14] ≥3.5 unspecified 123/226
(54.42%)		 2/103
(1.94%)		 3/103
(2.74%)		 .
[53] 95ct–3.4 apparently isolated 18/114
(15.79%)		 2/96
(2.01%)		 . .
3.5–4.4 apparently isolated 30/150
(20.00%)		 2/120
(1.67%)		 . .
4.5–5.4 apparently isolated 16/55
(30.09%)		 2/39
(5.13%)		 . .
≥5.5 apparently isolated 29/55
(52.73%)		 1/26
(3.85%)		 1/22
(4.55%)		 2/21
(9.52%)
[54] 3.0–3.4 apparently isolated 20/619
(32.31%)		 9/599
(1.50%)		 . .
[55] ≥3.5 unspecified 57/175
(32.57%)		 3/118
(2.54%)		 . .
[56] 2.5–3.4 unspecified 245/1372
(17.86%)		 . . .
3.5–4.4 unspecified 182/866
(21.02%)		 . . .
4.5–5.4 unspecified 77/282
(27.30%)		 . . .
5.5–6.4 unspecified 29/109
(26.61%)		 . . .
≥6.5 unspecified 27/91
(29.67%)		 . . .
[57] ≥3.5 apparently isolated . . 0/111
(0.00%)		 2/111
(1.80%)
≥3.5 associated . . 7/91
(7.69%)		 17/84
(20.24%)
[58] 3.0–3.4 apparently isolated 8/170
(4.70%)		 3/162
(1.85%)		 . .
≥3.5 apparently isolated 16/138
(42.11%)		 3/122
(2.46%)		 . .
[50] 3.5–4.4 apparently isolated 16/76
(21.05%)		 3/60
(5.00%)		 . .
≥4.5 apparently isolated 27/56
(48.21%)		 5/29
(17.24%)		 . .
[60] 2.5–3.4 unspecified 7/57
(12.28%)		 1/49
(2.94%)		 . .
3.5–4.4 unspecified 10/39
(25.64%)		 1/29
(3.45%)		 . .
4.5–5.4 unspecified 7/19
(36.84%)		 0/12
(0.00%)		 . .
≥5.5 unspecified 13/24
(54.17%)		 0/11
(0.00%)		 . .
[61] 2.5–2.9 apparently isolated 10/86
(11.63%)		 1/76
(1.32%)		 . .
3.0–3.4 apparently isolated 11/73
(15.06%)		 2/62
(3.23%)		 . .
3.5–4.4 apparently isolated 9/50
(18.00%)		 2/41
(4.88%)		 . .
4.5–5.4 apparently isolated 10/21
(47.62%)		 0/11
(0.00%)		 . .
≥5.5 apparently isolated 7/11
(63.64%)		 0/4
(0.00%)		 . .
[62] ≥95ct unspecified 66/287
(23.00%)		 . . .
[63] ≥3.5 unspecified 179/242
(73.96%)		 . . .
[64] ≥95ct unspecified 119/541
(22.00%)		 . . .
[65] ≥3.5 unspecified 16/71
(22.54%)		 . . .
[66] ≥3.0 unspecified 6/105
(5.71%)		 . . .
[67] ≥2.5 unspecified 18/122
(14.75%)		 . . .
[68] ≥3 unspecified 224/1058
(21.17%)		 . . .
3.0–3.4 unspecified 65/676
(9.62%)		 . . .
3.5–4.4 unspecified 51/208
(24.52%)		 . . .
4.5–5.4 unspecified 29/67
(43.28%)		 . . .
5.5–6.4 unspecified 26/37
(70.27%)		 . . .
≥6.5 unspecified 53/70
(75.71%)		 . . .
[69] 95ct–3.4 unspecified 124/894
(13.87%)		 8/770
(1.04%)		 . .
≥3.5 unspecified 436/1007
(43.30%)		 30/571
(5.25%)		 . .
3.5–4.9 unspecified 138/492
(28.05%)		 16/354
(4.52%)		 . .
5.0–6.4 unspecified 113/199
(56.78%)		 7/86
(8.14%)		 . .
6.5–7.9 unspecified 93/155
(60.00%)		 5/62
(8.06%)		 . .
≥8.0 unspecified 92/162
(56.79%)		 2/70
(2.86%)		 . .
[101] ≥3 unspecified 10/120
(8.33%)		 . . .
[70] 95ct–3.4 unspecified 40/263
(15.21%)		 . . .
3.5–4.4 unspecified 32/169
(18.93%)		 . . .
4.5–5.4 unspecified 37/79
(46.84%)		 . . .
5.5–6.4 unspecified 33/52
(63.46%)		 . . .
≥6.5 unspecified 55/85
(64.71%)		 . . .
[71] ≥3.5 apparently isolated . 5/34
(14.70%)		 . .
≥3.5 associated . 3/16
(18.75%)		 1/13
(7.69%)		 5/12
(41.67%)
[102] ≥3.0 unspecified 8/46
(17.39%)		 . . .
3.0–3.9 unspecified 4/35
(11.43%)		 . . .
4.0–4.9 unspecified 2/7
(28.57%)		 . . .
5.0–5.9 unspecified 1/3
(33.33%)		 . . .
≥6.0 unspecified 1/1
(100.00%)		 . . .
[72] 3.5–4.4 unspecified . 4/343
(1.17%)		 . .
4.5–5.4 unspecified . 3/124
(2.42%)		 . .
5.5–6.4 unspecified . 4/73
(5.48%)		 . .
≥6.5 unspecified . 0/59
(0.00%)		 . .
[73] ≥99ct unspecified 94/221
(42.53%)		 1/106
(0.94%)		 . .
[74] ≥3.0 apparently isolated 21/108
(19.44%)		 9/87
(10.34%)		 . .
3.0–3.9 apparently isolated 12/81
(14.81%)		 6/69
(8.70%)		 . .
≥4.0 apparently isolated 9/27
(33.33%)		 3/18
(16.67%)		 . .
[75] ≥3.0 unspecified 172/775
(22.19%)		 4/256
(1.56%)		 . .
[76] ≥3.5 apparently isolated . 1/172
(0.58%)		 . .
[77] 95ct–3.4 unspecified 507/7109
(7.13%)		 . . .
3.5–4.4 unspecified 423/2101
(20.13%)		 . . .
4.5–5.4 unspecified 321/707
(45.40%)		 . . .
5.5–6.4 unspecified 219/437
(50.11%)		 . . .
6.5–7.4 unspecified 218/309
(70.55%)		 . . .
7.5–8.4 unspecified 148/209
(70.81%)		 . . .
8.5–9.4 unspecified 126/168
(75.00%)		 . . .
9.5–10.4 unspecified 74/88
(84.09%)		 . . .
10.5–11.4 unspecified 45/64
(70.31%)		 . . .
≥11.5 unspecified 87/123
(70.73%)		 . . .
[78] ≥3.5 apparently isolated . 3/269
(1.12%)		 . .
≥3.5 associated . 3/31
(9.68%)		 . .
[79] ≥6.5 unspecified 60/84
(71.43%)		 . . .
5.5–6.4 unspecified 21/37
(56.76%)		 . . .
[80] ≥3.5 unspecified 164/303
(54.13%)		 . . .
[81] ≥3.5 unspecified 123/222
(55.41%)		 . . .
≥3.5 apparently isolated 32/107
(29.91%)		 . . .
≥3.5 associated 91/115
(79.13%)		 . . .
[82] ≥95ct unspecified 154/393
(39.19%)		 . . .
95ct–3.4 unspecified 31/170
(18.24%)		 . . .
3.5–4.4 unspecified 29/81
(35.80%)		 . . .
4.5–5.4 unspecified 23/42
(54.76%)		 . . .
5.5–6.4 unspecified 15/23
(65.22%)		 . . .
≥6.5 unspecified 56/77
(72.73%)		 . . .
[83] ≥95ct unspecified 37/186
(19.89%)		 . . .
95ct–3.4 unspecified 10/92
(10.87%)		 . . .
3.5–4.4 unspecified 6/50
(12.00%)		 . . .
4.5–5.4 unspecified 4/12
(33.33%)		 . . .
5.5–6.4 unspecified 7/15
(46.67%)		 . . .
≥6.5 unspecified 10/17
(58.82%)		 . . .
[84] 2.5–4.4 unspecified 29/33
(87.88%)		 . . .
4.5–6.4 unspecified 8/8
(100.00%)		 . . .
≥6.5 unspecified 11/13
(84.62%)		 . . .
[85] ≥99ct unspecified 64/248
(25.81%)		 . . .
[86] ≥4.0 unspecified 71/160
(44.38%)		 . . .
[87] ≥6.5 unspecified 89/120
(74.17%)		 . . .
[88] ≥95ct unspecified 44/147
(29.93%)		 . . .