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A sonographic approach to the prenatal diagnosis of skeletal dysplasias
Author(s) -
Pajkrt Eva,
Chitty Lyn S.
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5501
Subject(s) - prenatal diagnosis , medicine , exome sequencing , prenatal ultrasound , ultrasonography , exome , bioinformatics , pregnancy , fetus , mutation , radiology , genetics , biology , gene
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.