Novel physique index for the screening of skeletal dysplasia at birth

Abstract

This study aimed to devise a novel physique index and investigate its accuracy in identify-ing newborns with skeletal dysplasia in comparison with head circumference (HC)/height (HT) ratio. The birth weight (W), HT, and HC at birth of 1500 newborns were retrospectively collected. The linear regression equations and coefficients of determination (R2) were determined. The formulated equation was corrected by the mean weight for gestational age at birth (Wcorr) as a novel physique index for screening skeletal dysplasia. The index accuracy was assessed using receiver operating characteristic (ROC) curves in 11 newborns by fetal ultrasound and compared with that of the HC/HT ratio. The R2 values between W and HT, (HT)2, and (HT)3 were 0.978, 0.990, and 0.993, respectively. Those between W and HC, (HC)2, and (HC)3 were 0.974, 0.984, and 0.988, respectively. W/Wcorr × (HC/HT)3 was used as a novel physique index. Seven newborns had skeletal dysplasia. Our novel physique index had a higher area under the curve (AUC), sensitivity, and specificity than the HC/HT ratio (AUC: 1.00 vs. 0.86, sensitivity: 1.00 vs. 0.86, and specificity: 1.00 vs. 0.75, respectively). Our novel physique index was more accurate than HC/HT ratio and has the potential to accurately identify newborns with skeletal dysplasia.