[Prenatal ultrasonic characteristics and genetic analysis of fetuses with chromosome 22q11 microdeletion syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):853-856. doi: 10.3760/cma.j.cn511374-20200331-00222.
[Article in Chinese]


Objective: To analyze the prenatal ultrasonic characteristics and genetic features of 14 fetuses with chromosome 22q11 microdeletion syndrome (22q11DS).

Methods: 4989 fetuses were analyzed by using single nucleotide polymorphism array (SNP array) in the Fujian Maternal and Child Health Hospital from November 2016 to November 2019.

Results: SNP array showed that 11 fetuses had classic 3 Mb microdeletion in 22q11 region, one fetus had 2.0 Mb microdeletion, and two fetuses had 1.0 Mb microdeletion. The 1.0 Mb microdeletion in 22q11 region contains SNAP29 and CRKL genes, which may increase the risk of congenital renal malformation and cardiovascular malformation.

Conclusion: Prenatal ultrasonic characteristics of fetuses with 22q11 microdeletion syndrome vary, and SNP array is a powerful tool to diagnose such diseases, which can provide accurate genetic diagnosis and enable prenatal diagnosis.

MeSH terms

  • 22q11 Deletion Syndrome / diagnostic imaging*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22 / genetics
  • Female
  • Fetus
  • Genetic Testing
  • Humans
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonics*

Supplementary concepts

  • Chromosome 22, microdeletion 22 q11