Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review.

Genes (Basel) · 2023 · PMC10298097 · PMID 37372383

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did not reach statistical significanceno p-value reported

Similar to our study, it had shown that the diagnostic yield in fetuses with isolated short long bones was lower than in the fetuses with nonisolated short long bones but did not reach statistical significance.

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