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. 2024 Mar 26;7(3):e243689. doi: 10.1001/jamanetworkopen.2024.3689

Table 3. Chromosomal Anomalies by Nuchal Translucency Measurementa.

Nuchal translucency measurement, mm Main analysis Subgroup analysis, adjusted modelb
Crude model Adjusted modelb Conditions identifiable on cfDNA screeningc Conditions not identifiable on cfDNA screeningd
RD (95% CI), % RR (95% CI) RD (95% CI), % RR (95% CI) RD (95% CI), % RR (95% CI) RD (95% CI), % RR (95% CI)
<2.0 1 [Reference] 1 [Reference] 1 [Reference] 1 [Reference] 1 [Reference] 1 [Reference] 1 [Reference] 1 [Reference]
2.0 to <2.5 0.55 (0.45-0.66) 1.97 (1.78-2.18) 0.61 (0.51-0.71) 2.39 (2.14-2.66) 0.45 (0.37-0.52) 4.21 (3.62-4.91) 0.16 (0.08-0.23) 1.48 (1.27-1.73)
2.5 to <3.0 2.24 (1.85-2.63) 4.92 (4.26-5.69) 2.26 (1.88-2.63) 5.93 (5.11-6.88) 2.01 (1.67-2.34) 14.76 (12.33-17.65) 0.27 (0.08-0.46) 1.82 (1.34-2.47)
3.0 to <3.5 9.95 (8.49-11.41) 18.42 (15.92-21.31) 9.94 (8.49-11.39) 20.33 (17.58-23.52) 8.62 (7.27-9.96) 52.15 (43.98-61.84) 1.40 (0.77-2.04) 4.97 (3.45-7.17)
3.5 to <5.0 24.36 (21.71-27.00) 43.63 (38.88-48.96) 24.31 (21.67-26.96) 42.94 (38.28-48.16) 21.10 (18.60-23.61) 107.31 (93.20-123.56) 3.50 (2.27-4.72) 10.15 (7.37-13.98)
5.0 to <6.5 48.72 (43.51-53.94) 86.28 (76.91-96.80) 48.68 (43.46-53.89) 80.85 (71.91-90.90) 43.97 (38.79-49.15) 208.01 (179.77-240.69) 5.15 (2.66-7.64) 14.17 (9.02-22.25)
≥6.5 59.66 (54.99-64.33) 105.44 (96.40-115.32) 59.64 (54.97-64.31) 101.88 (92.79-111.88) 55.79 (51.06-60.53) 276.14 (244.84-311.44) 4.30 (2.18-6.41) 12.11 (7.69-19.07)

Abbreviations: cfDNA, cell-free DNA; RD, risk difference; RR, risk ratio.

a

Outcome determined by cytogenetic testing. Not having the outcome is determined by normal cytogenetic testing result if performed, normal cfDNA screen result if condition was tested, and by live birth without clinical findings if condition can be clinically diagnosed.

b

Adjusted for gestational age at screening.

c

Includes trisomies 21, 18, and 13 and sex chromosome aneuploidies.

d

Includes all other chromosomal anomalies.