Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra

Hang Zhou; You Wang; Ruibin Huang; Fang Fu; Ru Li; Ken Cheng; Dan Wang; Qiuxia Yu; Yongling Zhang; Xiangyi Jing; Tingying Lei; Jin Han; Xin Yang; Dongzhi Li; Can Liao

doi:10.3390/genes13091623

Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra

Genes (Basel). 2022 Sep 9;13(9):1623. doi: 10.3390/genes13091623.

Authors

Hang Zhou¹, You Wang^{1

2}, Ruibin Huang¹, Fang Fu¹, Ru Li¹, Ken Cheng^{1

3}, Dan Wang¹, Qiuxia Yu¹, Yongling Zhang¹, Xiangyi Jing¹, Tingying Lei¹, Jin Han¹, Xin Yang¹, Dongzhi Li¹, Can Liao¹

Affiliations

¹ Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510620, China.
² The First Clinical Medical College, Southern Medical University, Guangzhou 510515, China.
³ School of Medicine, South China University of Technology, Guangzhou 510641, China.

Abstract

Background: There are few studies on the burden of chromosomal abnormalities and single gene disorders in fetal hemivertebra (HV). We aim to investigate the cytogenetic and monogenic risk and evaluate prenatal outcomes of fetal HV. Method: This study included fetuses diagnosed with HV divided into two groups: isolated HV and non-isolated HV. Data on other sonographic structural anomalies, chromosomal and sub-chromosomal abnormalities, monogenic variations detected by WES, and prenatal outcomes are recorded and reviewed. Results: Among 109 fetal HV cases, forty-seven (43.1%) non-isolated HV cases were associated with structural anomalies. Chromosomal test results were available in 58 cases, identifying six (10.3%) chromosomal aberrations involved in four isolated and two non-isolated HV. WES identified four (likely) pathogenic variants in three cases among 16 fetuses with HV, involving three novel variants, 1250G > T and c.1277G> inherited from parents, respectively, in DLL3 and c.7213C > A ** in the FLNB. The live birth rate (LB) was higher in the isolated fetal HV group than in the non-isolated group (67.7% (42/62) vs. 12.5% (12/47), p < 0.001). Conclusion: This study emphasizes the risk of cytogenetic abnormalities in isolated HV. WES yields a diagnostic rate of 18.3% in HV with normal CMA, probably aiding the prenatal counseling and management of fetal HV.

Keywords: chromosomal microarray analysis; fetal hemivertebra; prenatal diagnosis; whole exome sequence.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Aberrations
Female
Fetus* / abnormalities
Fetus* / diagnostic imaging
Humans
Intracellular Signaling Peptides and Proteins
Membrane Proteins
Pregnancy
Prenatal Diagnosis* / methods

Substances

DLL3 protein, human
Intracellular Signaling Peptides and Proteins
Membrane Proteins

Grants and funding

This work was funded by the sub-project of the National Key Research and Developmental Program (2021YFC2701002), the National Natural Science Foundation of China (81801461, 81873836, 81771594, 81671474, 81501267), the Natural Science Foundation of Guangdong Province (2019A1515012034, 2017A030313460), and The Project of Guangzhou Science and Technology, Grant/Award Number 202102020191.