Elsevier

Genetics in Medicine

Volume 11, Issue 2, February 2009, Pages 127-133
Genetics in Medicine

ACMG Practice Guidelines
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

https://doi.org/10.1097/GIM.0b013e3181971ccbGet rights and content
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Abstract

The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomic for a specific disorder. However, differentiating known lethal disorders from nonlethal disorders, providing differential diagnoses before delivery, determining postdelivery management plans and ultimately determining accurate recurrences risks to the at-risk couples improves patient care. These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia.

Keywords

skeletal dysplasias
osteochondrodysplasias
prenatal diagnosis
ultrasound

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