A mixture model of nuchal translucency thickness in screening for chromosomal defects

Fetal nuchal translucency (NT) thickness increases with crown-rump length (CRL). In screening for chromosomal defects patient-specific risks are derived by multiplying the a priori maternal age-related risk by a likelihood ratio, determined from the deviation of the measured NT from the expected median. To quantify this deviation the measured NT is either subtracted (delta NT) or divided by the expected median (multiple of the median method, MoM). This study examines the validity of these methods.

NT was prospectively measured at 11 + 0 to 13 + 6 weeks in screening for chromosomal defects. The distribution of NT in euploid and chromosomally abnormal fetuses was examined.

There were 37 078 normal pregnancies and 264 with trisomy 21, 81 with trisomy 18, 38 with trisomy 13 and 27 with Turner syndrome. We found that firstly, contrary to the assumption underlying the delta NT method, the distribution of delta NT changes with CRL and secondly, contrary to the assumption underlying the MoM method the distribution of NT was not Gaussian. Fetal NT followed two distributions, one that was dependent on CRL and one that was independent of CRL. The distribution in which NT increases with CRL was observed in about 95% of euploid fetuses, 5% with trisomy 21, 30% with trisomy 18, 15% with trisomy 13 and 10% with Turner syndrome. The median CRL-independent NT was 2.0 mm for the euploid group and 3.4, 5.5, 4.0 and 7.8 mm for trisomies 21, 18, 13 and Turner syndrome, respectively.

The NT thickness in chromosomally normal and abnormal fetuses follows a mixture of a gestation-dependent and gestation-independent distribution.