Fetal Persistent Left Superior Vena Cava Associated with Abnormal Karyotypes and Copy Number Variations / 中山大学学报(医学科学版)

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.