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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2019.00813

Prenatal diagnosis of microdeletions or microduplications in the proximal, central, and distal regions of chromosome 22q11.2: ultrasound findings and pregnancy outcome

 Shuyuan Li1, Xu Han1, Mujin Ye1, Songchang Chen1, Yinghua Shen1, Jianmei Niu1, Yanlin Wang1 and  Xu Chenming1, 2*
  • 1International Peace Maternity & Child Health Hospital, China
  • 2Shanghai Jiao Tong University, China

Several recurrent microdeletions and microduplications in the proximal, central, and distal regions of chromosomal 22q11.2 have been identified. However, due to a limited number of patients reported in the literature, highly variable clinical phenotypes, and incomplete penetrance, the pathogenicity of some microdeletions/microduplications in 22q11.2 central and distal regions are unclear. Hence, the genetic counseling and subsequent pregnancy decision are extremely challenging, especially when they are found in structurally normal fetuses. Here, we reported 27 consecutive cases diagnosed prenatally with 22q11.2 microdeletions or microduplications by chromosomal microarray analysis in our center. The prenatal ultrasound features, inheritance of the microdeletions/microduplications, and their effects on the pregnancy outcome were studied. We found that fetuses with 22q11.2 microdeletions were more likely to present with structure defects in the ultrasound, as compared to fetuses with 22q11.2 microduplications. Both the prenatal ultrasound findings and the inheritance of the microdeletions/microduplications affected the parent’s decision of pregnancy. Those with structure defects in prenatal ultrasound or occurred de novo often resulted in termination of the pregnancy, whereas those with normal ultrasound and inherited from healthy parent were likely to continue the pregnancy and led to normal birth. Our study emphasized that proximal, central, and distal 22q11.2 deletions or duplications were different from each other, although some common features were shared among them. More studies are warranted to demonstrate the underlying mechanisms of different clinical features of these recurrent CNVs, thereby to provide more information for genetic counseling of 22q11.2 microdeletions and microduplications when they are detected prenatally.

Keywords: 22q11.2, Microdeletions, Microduplications, Prenatal Diagnosis, Genetic counseling (MeSH)

Received: 03 Apr 2019; Accepted: 06 Aug 2019.

Edited by:

Fan Jin, Zhejiang University, China

Reviewed by:

Muhammad J. Hassan, National University of Medical Sciences (NUMS), Pakistan
Richard CHOY, The Chinese University of Hong Kong, China  

Copyright: © 2019 Li, Han, Ye, Chen, Shen, Niu, Wang and Chenming. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Prof. Xu Chenming, Shanghai Jiao Tong University, Shanghai, China, chenming_xu2006@163.com