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 identifying 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.

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

“…Most researchers concur that FL<−2 standard deviations (according to the Hadlock standard) can be considered as fetal SF 5 . However, some argue that this standard has a high false‐positive rate, causing unnecessary psychological stress for pregnant women, and suggest using FL<−3 standard deviations as the assessment criterion for fetal SF 6 . This study employed the Hadlock standard.…”

“…5 However, some argue that this standard has a high false-positive rate, causing unnecessary psychological stress for pregnant women, and suggest using FL<À3 standard deviations as the assessment criterion for fetal SF. 6 This study employed the Hadlock standard. Among the 40 pregnant women with prenatally suspected SD, only three cases were associated with femoral curvature, while the rest exhibited fetal SF.…”