A sonographic approach to the prenatal diagnosis of skeletal dysplasias

Eva Pajkrt, Lyn S. Chitty

Research output: Contribution to journalArticleAcademicpeer-review

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.
Original languageEnglish
Pages (from-to)701-719
JournalPrenatal Diagnosis
Volume39
Issue number9
DOIs
Publication statusPublished - 1 Jan 2019
Externally publishedYes

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