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.