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.
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the third plane image of the three-dimensional sonography (3D US) for the quantitative analysis of the cerebellar vermis in normal and Dandy-Walker syndrome (DWS) fetuses.</p><p><b>METHODS</b>The cerebellar vermis was scanned with trans-abdominal 3D US in the second and third trimesters in 571 normal fetuses and 39 fetuses with Dandy-Walker syndrome. The surface area of the vermis in the mid-sagittal view was measured and calculated. The correlation between the vermian area and the pregnant week was analyzed. The data of vermian area between normal and DWS fetuses was compared.</p><p><b>RESULTS</b>The vermian area was measured in 529 normal fetuses in the third plane of 3D US. The vermis grew in a linear fashion throughout pregnancy and the growth pattern positively correlated with the gestational age (r2 = 0. 854, P < 0.05). In 39 fetuses with DWS, including 14 with Dandy-Walker malformation (DWM) and 25 with Dandy-Walker variant (DWV), no vermian structure was showed in the mid-sagittal plane in 12 fetuses with DWM and 2 fetuses with DWV, whereas a small vermis appeared in other DWSs.</p><p><b>CONCLUSIONS</b>The third plane image obtained by 3D US is valuable in studying the fetal cerebellar vermis during the middle and late pregnancy. Knowledge of normal and abnormal vermian appearance may help identify developmental anomalies. Measurement of vermian area in the third plane with 3D US provide a quantitative indicator for prenatal diagnosis of DWS.</p>