Nasal bone in fetal aneuploidy risk assessment: are they independent markers in the first and second trimesters?

Abstract

Objectives: In the mid-trimester ultrasound, nasal bone (NB) length can be used to correct the a priori risk for trisomy 21. Our study aims to evaluate if there is a correlation between an absent NB in the first trimester and a hypoplastic NB in the second trimester.

Methods: Our two year retrospective analysis of data derived from routine clinical practice. Single euploid fetuses were included. The NB was assessed in both trimesters according to international guidelines and transformed into categorical variables. Logistic regression was performed in order to accomplish our main objective.

Results: From the 759 normal pregnancies included, 45 (5.93%) had abnormal NB in the first trimester and 23 (3%) in the second trimester. Eleven cases (47.8%) of the abnormal NB in the second trimester were abnormal in the 11-14 weeks scan. After the diagnosis of an absent NB in the first trimester the odds ratio (OR) for a hypoplastic NB in the second trimester is 18.926 (7.791-45.977; p-value <0.01).

Conclusions: Our data suggest a strong association between the NB in the first and in the second trimester in normal euploid fetuses. This is important information to consider when counseling patients on the basis of this ultrasound marker.

Keywords: Down syndrome; aneuploidy; nasal bone (NB); screening.