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Introduction <p>A unique case of mosaic tetrasomy 9p was found using CNV-seq analysis of uncultured amniocytes, which was missed by karyotype analysis of cultured amniocytes.</p> Case report <p>The karyotype was determined to be 46, XY, with mosaic duplication of chromosome 9 from p24.3 to p13.1 indicated by CNV sequencing in the initial amniocentesis. Subsequent prenatal testing revealed a normal karyotype, with FISH analysis of cultured amniocytes identifying 2% tetrasomy of chromosome 9p. The karyotype of cord blood revealed mosaic tetrasomy 9p, while CNV-seq on uncultured cord blood indicated nearly complete tetrasomy 9p.</p> Conclusions <p>It is recommended to conduct CNV-seq or CMA on uncultured amniocytes in conjunction with karyotype analysis on cultured amniocytes. The presence of mosaic tetrasomy 9p during amniocentesis may result in either a benign condition or an adverse outcome, necessitating informed decision-making for pregnant women facing such circumstances.</p>

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Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月14日

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  • Xingkun Yang,
  • Yasi Zhou,
  • Xiaodan Zhu,
  • Tingting Xiao,
  • Miaoling Ou,
  • Linghua Zhang,
  • Xiang Huang,
  • Xiaoling Guo,
  • Chao Li

摘要

Introduction

A unique case of mosaic tetrasomy 9p was found using CNV-seq analysis of uncultured amniocytes, which was missed by karyotype analysis of cultured amniocytes.

Case report

The karyotype was determined to be 46, XY, with mosaic duplication of chromosome 9 from p24.3 to p13.1 indicated by CNV sequencing in the initial amniocentesis. Subsequent prenatal testing revealed a normal karyotype, with FISH analysis of cultured amniocytes identifying 2% tetrasomy of chromosome 9p. The karyotype of cord blood revealed mosaic tetrasomy 9p, while CNV-seq on uncultured cord blood indicated nearly complete tetrasomy 9p.

Conclusions

It is recommended to conduct CNV-seq or CMA on uncultured amniocytes in conjunction with karyotype analysis on cultured amniocytes. The presence of mosaic tetrasomy 9p during amniocentesis may result in either a benign condition or an adverse outcome, necessitating informed decision-making for pregnant women facing such circumstances.