Prenatal Evaluation and Outcomes in Fetuses with Suspected Skeletal Dysplasias

Abstract Fetal skeletal dysplasias (SDs), a group of congenital abnormalities in bone and cartilage development, are associated with high clinical, phenotypic, and genetic heterogeneities, making accurate diagnosis extremely difficult. Prenatal presentation, genetic basis, and postnatal outcomes have been evaluated in this study. A prospective observational study over 1 year was conducted in a tertiary care setting. Antenatal women with abnormal skeletal sonography of the fetus or a proband with skeletal abnormality underwent detailed ultrasound (US) followed by prenatal counseling and molecular analysis of fetal DNA. A postnatal gross examination and an infantogram were performed. A total of 20 cases were evaluated, 2 of which had an affected live sibling. In the other 18, antenatal US showed short-limb manifestations and thoracic cage abnormalities. Among these, 14 women presented in the second trimester and 4 in the third trimester with abnormal sonography. Molecular testing was offered to all; 2 women opted for DNA storage and 10 opted for the test. Systematic evaluation of the proband and detailed US of fetuses can guide appropriate molecular testing, facilitate accurate prenatal diagnoses, allow formulation of a more precise treatment plan, allow better genetic counseling, and provide a molecular basis for future pregnancies. To provide a precise management plan, genetic basis, and implications for the next pregnancy to current practitioners in perinatal medicine.