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. 2021 Sep 14;129(1):52–61. doi: 10.1111/1471-0528.16869

Table 3.

Number of diagnostic variants identified by trio ES in relation to size of isolated NT at presentation

NT (mm) Number of cases Diagnostic variants detected (%)
3.5–4.4 63 1 (1.6)
4.5–5.4 42 6 (14.2)
5.5–6.4 22 2 (9.1)
6.5–7.4 11 2 (18.2)
≥7.5 14 4 (28.6)
Not specified 7 1 (14.3)
Total 159 16 (10.1)