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

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

Skeletal dysplasias are a group of diseases characterized by bone and joint abnormalities, which can be detected during prenatal ultrasound. Next-generation sequencing has rapidly revolutionized molecular diagnostic approaches in fetuses with structural anomalies. This review studies the additional...

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Bibliographic Details
Main Authors: Kai Yeung Tse, Ilham Utama Surya, Rima Irwinda, Kwok Yin Leung, Yuen Ha Ting, Ye Cao, Kwong Wai Choy
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Genes
Subjects:
whole-exome sequencing
CMA
prenatal diagnosis
skeletal dysplasia
systematic review
Online Access:https://www.mdpi.com/2073-4425/14/6/1203

Internet

https://www.mdpi.com/2073-4425/14/6/1203

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