Application of Single Nucleotide Polymorphism Microarray Analysis for the Investigation of Fetuses with Conotruncal Heart Defects
- VernacularTitle:单核苷酸多态性微阵列技术在圆锥动脉干畸形胎儿诊断中的运用
- Author:
Mei-fang LIN
1
;
Ju ZHENG
1
;
Ting LEI
1
;
Liu DU
1
;
Hong-ning XIE
1
Author Information
1. Department of Ultrasound，The First Affiliated Hospital of Sun Yat-sen University，Guangzhou 510058，China
- Publication Type:Journal Article
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2019;40(2):251-256
- CountryChina
- Language:Chinese
-
Abstract:
【Objective】This study aimed to explore copy number variations（CNV）in fetuses with conotruncal heart defect （CTD）. 【Methods】 Fetuses with ascertained CTD were investigated for chromosomal aberrations including copy number variations with chromosomal microarray analysis（CMA）and QF-PCR. Based on clinical significance of CNV，Fetuses were divided into two subgroups：non- benign CNV group ［（pathogenic CNV and CNV of unknown significance（VOUS）］and benign CNV group. Data on fetal structural malformations，copy number variations，and pregnancy out? comes were collected and compared.【Results】Among 128 cases without chromosomal aneuploidies ，pathogenic CNV ， CNV of VOUS ，and benign CNV were identified in 5.5% ，4.7% ，and 3.9% ，respectively. Compared with cases in benign CNV group（n=115），fetuses in non- benign CNV（n=13）had a significantly higher rate of overall extra- cardiac anomalies（76.9% vs. 43.5%，P=0.037），structural extra-cardiac anomalies（61.5% vs. 24.2%，P=0.022），softer mark? er anomalies（61.5% vs. 20.9% ，P=0.004），and thymus anomalies（30.8% vs. 0.87% ，P=0.000），whereas，no significant difference in that of intra- cardiovascular anomalies was noted（53.9% vs. 53.9%，P=1.000）excepted for that of persistent left superior vena cava（46.2% vs. 13.9% ，P=0.010）. The incidence of natural death in non- benign group was higher than but not statistically different from that of benign group.【Conclusions】Pathogenic CNV contributed to the pathogenesis of CTD. The presence of associated extra-cardiac anomalies including thymus abnormalities correlated with a higher probability of non-benign CNV.
