Prenasal thickness to nasal bone length ratio in normal and trisomy 21 fetuses at 11-14 weeks of gestation.

OBJECTIVE: To show the feasibility and to create a reference range for prenasal thickness (PT) and for the PT to nasal bone length (NBL) ratio in normal fetuses at 11-14 gestational weeks and to compare the findings to fetuses with trisomy 21.

METHOD: PT, NBL and PT/NBL ratio were measured retrospectively in stored two-dimensional images of 1155 normal fetuses and 44 fetuses with trisomy 21. Mid-sagittal images were acquired at first trimester ultrasound examinations and were selected from our digital database.

RESULTS: The PT increased with CRL from 1.0 mm at 45-mm CRL to 1.6 mm at 84-mm CRL. The mean PT/NBL ratio was 0.6 and was not altered by CRL. The mean PT/NBL ratio in fetuses with trisomy 21 was significantly higher than in normal fetuses (p < 0.0001). For a cut-off value of 0.8 the PT/NBL yielded a sensitivity of 86.4% and a specificity of 98.4% for trisomy 21.

CONCLUSION: The assessment of PT between 11 and 14 gestational weeks is feasible with high intraclass correlation. The PT to NBL ratio seems to be a promising marker for trisomy 21 in the first trimester and was superior to the isolated contribution of NBL and PT measurements.