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PPM - Suspected Fetal Skeletal Dysplasia on Second ...
Description and References
Description and References
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Pdf Summary
The provided document is a module titled "Suspected Fetal Skeletal Dysplasia on Second/Third Trimester Ultrasound," updated as of August 2024. It concentrates on diagnosing fetal skeletal dysplasias during the second and third trimesters of pregnancy. The module outlines several learning objectives: identifying fetuses at risk for skeletal dysplasia, ensuring appropriate ultrasonographic evaluation, confirming that genetic counseling and diagnostic testing are offered, and employing a multidisciplinary approach to suspected cases.<br /><br />Skeletal dysplasias are a diverse group of disorders, some of which can be detected prenatally, primarily during the later stages of pregnancy. Ultrasonography plays a crucial role in evaluating these conditions, with particular attention given to factors such as lethality. Due to the complexity of skeletal dysplasias, involving multiple disciplines is recommended for optimal prenatal care and diagnosis.<br /><br />The document also includes references to literature sources that provide comprehensive guidelines and strategies for prenatal diagnosis, molecular testing, and classification of skeletal disorders. These include studies and guidelines by experts like Krakow et al., Jelin et al., Pajkrt and Chitty, Mortier et al., and Nishimura et al.<br /><br />Overall, the module emphasizes the importance of early and accurate detection of skeletal dysplasias to facilitate informed decision-making and management during and after pregnancy. It underscores the need for collaborative efforts among healthcare professionals to address the challenges posed by fetal skeletal dysplasias, leveraging advances in genetic testing and ultrasonographic techniques.
Keywords
fetal skeletal dysplasia
second trimester ultrasound
third trimester ultrasound
prenatal diagnosis
genetic counseling
multidisciplinary approach
ultrasonography
molecular testing
skeletal disorders
pregnancy management
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
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