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Key Points Diagnosis of skeletal anomalies is challenging and requires time and a team approach, including clinical geneticists, paediatricians and pathologists. This chapter deals with the prenatal diagnosis of skeletal anomalies. It gives aids to diagnosis and categorises conditions by…
Key Points Noninvasive prenatal diagnosis (NIPD) based on analysis of cell-free DNA in maternal plasma for fetal sex determination is now an established clinical service in many countries. NIPD for a small number of single-gene disorders, including achondroplasia, thanatophoric dysplasia,…