A sonographic approach to the prenatal diagnosis of skeletal dysplasias |
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Authors: | Eva Pajkrt Lyn S Chitty |
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Institution: | 1. Academic Medical Centre, Department of Obstetrics, Amsterdam, The Netherlands;2. Great Ormond Street NHS Foundation Trust and the UCL Great Ormond Street Institute of Child Health, London, UK |
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Abstract: | Skeletal dysplasias are a heterogeneous group of conditions, many of which present unexpectedly in the prenatal period with a variety of ultrasound findings. Accurate prenatal diagnosis can now be facilitated using exome sequencing approaches, but in order to interpret results, accurate and detailed phenotyping is required. Here, we describe the sonographic approach to the prenatal diagnosis of skeletal abnormalities and illustrate how taking a systematic approach can facilitate diagnosis. |
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