ABSTRACT
@#【Objective】To investigate the clinical value of chromosomal microarray analysis（CMA）for fetuses with persistent left superior vena cava（PLSVC）.【Methods】Fetuses that were diagnosed with PLSVC during ultrasound examination and underwent invasive prenatal testing（on which karyotyping and CMA were both performed）from January 2014 to December 2016 at the First Affiliated Hospital of Sun Yat-sen University were reviewed. According to the combination of other ultrasound abnormalities，the cases were divided into isolated group and complicated group.【Results】Karyotype analysis identified chromosomal aberrations in 18.5%（15/81）of the fetuses，while CMA detected pathogenic copy number variations（CNV）in 23.5%（19/81）of the fetuses. There was no significant difference in the detection rate of chromosomal abnormalities between the Karyotype analysis and CMA（P = 0.44）. CMA achieved an incremental yield of 6.1% （4/66）among PLSVC fetuses with normal karyotypes，and only in the complicated cases. There were 12 cases（14.8% ，12/81）in isolated group and 69 cases（85.2% ，69/81）in complicated group. The frequency of genetic anomalies in the complicated group was not significantly higher than that in the isolated group（26.1%，18/69 vs. 8.3%，1/12，P = 0.277）. The incidences of atrioventricular septal defect，facial abnormalities，and multiple soft markers were significantly higher among fetuses with abnormal genetic test results（P= 0.030，P= 0.012，P= 0.014）.【Conclusion】CMA is a valuable tool for identifying additional unbalanced submicroscopic chromosomal abnormalities in fetuses with PLSVC ，especially when PLSVC is accompanied by other ultrasound malformations.
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.