Introduction
Routine fetal biometric evaluation includes femur length measurement. In cases where the femur length is 2 or more standard deviations below the normal range, the guidelines recommend measuring the length of the other long bones and to perform a thorough skeletal assessment.1-3
Short, fetal long bones may be constitutional and/or attributed to race/ethnicity. In these cases, no further testing is required. In some cases however, it may be the first sign of intrauterine growth retardation and placental insufficiency, resulting in an increased risk for pregnancy complications, including preterm delivery and pregnancy-associated hypertension disorders.4-6 Other causes for short long bones are chromosomal abnormalities and genetic syndromes including monogenic skeletal dysplasias.7-10A short femur and humerus have been linked to karyotype detectable aneuploidies; in particular trisomy 21.8 Information regarding the rate of submicroscopic chromosomal aberrations detected by chromosomal microarray analysis (CMA) is limited to a few reports in the literature.11, 12
This study investigated the prevalence of pathogenic/likely pathogenic variants detected by CMA, among pregnancies complicated with short long bones in relation to other clinical characteristics.