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Analysis of Correlation between Whole Exome Sequencing and Ultrasound Examination in Prenatal diagnosis of Fetal Skeletal Dysplasia
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  • Yuan Tian,
  • Erfeng Yuan,
  • Jinshuang Gao,
  • Yaqing Guo,
  • Haiyang Yu,
  • Linlin Zhang,
  • Xiao'an Zhang,
  • Xin Zhao,
  • Enwu Yuan,
  • Shihong Cui
Yuan Tian
The Third Affiliated Hospital of Zhengzhou University
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Erfeng Yuan
The Third Affiliated Hospital of Zhengzhou University
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Jinshuang Gao
The Third Affiliated Hospital of Zhengzhou University
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Yaqing Guo
The Third Affiliated Hospital of Zhengzhou University
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Haiyang Yu
The Third Affiliated Hospital of Zhengzhou University
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Linlin Zhang
The Third Affiliated Hospital of Zhengzhou University
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Xiao'an Zhang
The Third Affiliated Hospital of Zhengzhou University
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Xin Zhao
The Third Affiliated Hospital of Zhengzhou University
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Enwu Yuan
The Third Affiliated Hospital of Zhengzhou University
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Shihong Cui
The Third Affiliated Hospital of Zhengzhou University
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Abstract

Fetal skeletal dysplasia is a disease that is difficult to distinguish these types of diseases during the fetal period. Due to the difficulty of fetal ultrasound diagnosis, the severity of fetal skeletal dysplasia is extremely difficult to assess. For this condition, we analyzed 79 fetal samples of skeletal dysplasia from the third affiliated hospital of Zhengzhou University, China from August 2018 to April 2020, which had undergone prenatal whole exome sequencing(WES). By comparing the results of whole-exome sequencing and fetal ultrasound test results, we find that the fetal short limb phenotype found in the range of FL<-4.0SD or HL<-4.0SD through ultrasound test is closely related to FGFR3 gene mutation , and the correlation is stronger when accompanied by macrocephaly. We also find that the fetal limb curved phenotype is closely related to COL1A1 gene mutation. At the same time, we find that nasal dysplasia during fetal period is also a common phenotype of abnormal results detected by whole exome sequencing. Overall, our research shows that WES has different detection rates for various skeletal abnormalities according to the different types of ultrasound detection results, which provides a meaningful guidance for clinical diagnosis of fetal skeletal dysplasia.