Next Article in Journal
CELO Fiber1 Knob Is a Promising Candidate to Modify the Tropism of Adenoviral Vectors
Previous Article in Journal
Evolutionary Relationships and Divergence of Filamin Gene Family Involved in Development and Stress in Cotton (Gossypium hirsutum L.)
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Genes
Volume 13
Issue 12
10.3390/genes13122315
genes-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion

by
You Wang
1,2,†,
Hang Zhou
1,†,
Fang Fu
1,
Ken Cheng
1,3,
Qiuxia Yu
1,
Ruibin Huang
1,
Tingying Lei
1,
Xin Yang
1,
Dongzhi Li
1 and
Can Liao
1,*
1
The First School of Clinical Medicine, Southern Medical University, Guangzhou 510515, China
2
Department of Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou 510620, China
3
School of Medicine, South China University of Technology, Guangzhou 510641, China
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Genes 2022, 13(12), 2315; https://doi.org/10.3390/genes13122315
Submission received: 6 November 2022 / Revised: 27 November 2022 / Accepted: 6 December 2022 / Published: 8 December 2022
(This article belongs to the Section Genetic Diagnosis)
Review Reports Versions Notes

Abstract

(1) Objective: To investigate the prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome and to evaluate its pregnancy outcome. (2) Methods: This study included 4968 pregnant women who selected invasive prenatal diagnoses from 1 January 2017 to 1 August 2022. These 4698 pregnancies underwent chromosomal microarray analysis (CMA), data on 81 fetuses diagnosed with 16p11.2 microdeletion syndrome based on prenatal ultrasound features and genetic test results were recorded, and their pregnancy outcome was evaluated. (3) Results: 1.63% of fetuses (81/4968) were diagnosed with 16p11.2 microdeletion syndrome. Among these, there were skeletal malformations in 48.15% of the 81 fetuses, cardiovascular malformations in 30.86%, central nervous system malformations (CNS) in 11.11%, digestive system structural abnormalities in 6.17%, and isolated ultrasonography markers in 3.70%. (4) Conclusions: 16p11.2 microdeletion syndrome can display various systemic ultrasound abnormalities in the perinatal period but vertebral malformations are the most common. Our study is the first to report that TBX1 and CJA5 are associated with 16p11.2 microdeletion syndrome, expanding the disease spectrum of 16p11.2 microdeletion syndrome. In our study, the ventricular septal defect is the main feature of cardiac structural abnormalities caused by 16p11.2 microdeletion syndrome. In addition, our study highlights the use of CMA in 16p11.2 microdeletion syndrome, analyzed their genetic results, and evaluated the follow-up prognosis, which can be useful for prenatal diagnosis and genetic counseling.
Keywords: 16p11.2 microdeletion; CMA; prenatal diagnosis; genetic counseling 16p11.2 microdeletion; CMA; prenatal diagnosis; genetic counseling

Share and Cite

MDPI and ACS Style

Wang, Y.; Zhou, H.; Fu, F.; Cheng, K.; Yu, Q.; Huang, R.; Lei, T.; Yang, X.; Li, D.; Liao, C. Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion. Genes 2022, 13, 2315. https://doi.org/10.3390/genes13122315

AMA Style

Wang Y, Zhou H, Fu F, Cheng K, Yu Q, Huang R, Lei T, Yang X, Li D, Liao C. Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion. Genes. 2022; 13(12):2315. https://doi.org/10.3390/genes13122315

Chicago/Turabian Style

Wang, You, Hang Zhou, Fang Fu, Ken Cheng, Qiuxia Yu, Ruibin Huang, Tingying Lei, Xin Yang, Dongzhi Li, and Can Liao. 2022. "Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion" Genes 13, no. 12: 2315. https://doi.org/10.3390/genes13122315

APA Style

Wang, Y., Zhou, H., Fu, F., Cheng, K., Yu, Q., Huang, R., Lei, T., Yang, X., Li, D., & Liao, C. (2022). Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion. Genes, 13(12), 2315. https://doi.org/10.3390/genes13122315

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop