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Sotos syndrome: A study of antenatal presentation

  • Author Footnotes
    1 These two authors contributed equally to this study.
    Yong-Ling Zhang
    Footnotes
    1 These two authors contributed equally to this study.
    Affiliations
    Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center Affiliated to Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong, People’s Republic of China
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  • Author Footnotes
    1 These two authors contributed equally to this study.
    Xiang-Yi Jing
    Footnotes
    1 These two authors contributed equally to this study.
    Affiliations
    Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center Affiliated to Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong, People’s Republic of China
    Search for articles by this author
  • Gui-Lan Chen
    Affiliations
    Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center Affiliated to Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong, People’s Republic of China
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  • Li Zhen
    Affiliations
    Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center Affiliated to Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong, People’s Republic of China
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  • Dong-Zhi Li
    Correspondence
    Corresponding author at: Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Jinsui Road 9, Guangzhou Guangdong 510623, People’s Republic of China.
    Affiliations
    Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center Affiliated to Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong, People’s Republic of China
    Search for articles by this author
  • Author Footnotes
    1 These two authors contributed equally to this study.
Published:October 07, 2022DOI:https://doi.org/10.1016/j.ejogrb.2022.10.006

      Abstract

      Objective

      To determine the fetal ultrasound findings associated with Sotos syndrome caused by deletions at 5q35 including the NSD1 and a point mutation in this gene.

      Study design

      This was a retrospective study of eight pregnancies with fetal Sotos syndrome identified by chromosomal microarray (CMA)/whole exome sequencing (WES). Clinical and laboratory data were collected and reviewed for these cases.

      Results

      Two cases had no significant fetal abnormalities, and were only diagnosed after birth. One case presented in the first trimester with increased nuchal translucency. The remaining five fetuses were identified at late gestation. One of the five fetuses presented in the second trimester with mild ventriculomegaly, and four in the third trimester with mild ventriculomegaly, macrocephaly and polyhydramnios. CMA was done on all cases and revealed 5q35 deletions in seven cases, and WES detected a maternally inherited NSD1 variant in one case.

      Conclusion

      The fetal ultrasound findings in cases with Sotos syndrome, associated with deletions at 5q35 and a point mutation in the NSD1 are not specific with the most common finding being mild ventriculomegaly.

      Keywords

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