Objective: The objective of the study was to determine the likelihood ratio for trisomy 21 in Chinese fetuses with absent nasal bone (NB) at 11-14 weeks of gestation.
Study design: The NB was classified as present or absent in 8101 chromosomally/phenotypically normal or trisomy 21 pregnancies. The effect of crown rump length (CRL), nuchal translucency (NT), maternal age, and fetal karyotype on the incidence of absent NB was examined using logistic regression.
Results: The NB was successfully examined in 7925 cases (97.8%). The incidence of absent NB in unaffected and trisomy 21 cases were 2.1% (164/7899) and 50% (13/26), respectively. CRL (odds ratio [OR], 0.9; 95% confidence interval [CI], 0.87-0.92), NT (OR, 1.7; 95% CI, 1.4-2.3), and trisomy 21 (OR, 22.3; 95% CI, 8.1-61) were significant independent predictors of likelihood of absent NB. Positive likelihood ratios (LR) for trisomy 21 in Chinese were lower than that of Caucasians for the equivalent CRL and NT measurements.
Conclusion: Estimated risk for trisomy 21 in Chinese incorporating nasal bone status should use LRs derived in Chinese rather than Caucasians.