Association of fetal cardiac structural abnormalities and chromosomal aneuploidies and copy number variations / 中华医学遗传学杂志

OBJECTIVE@#To investigate the association of fetal cardiac structural abnormalities with chromosomal aneuploidies and copy number variations (CNVs) in amniocytes.@*METHODS@#328 pregnant women were subjected to fetal ultrasonography and chromosomal microarray analysis (CMA). Based on the fetal heart structure, the subjects were divided into normal (n=273) and abnormal groups (n=55). The detection rates of chromosomal aneuploidies and CNVs were compared between the two groups. Spearman method was used to assess the association between the results and fetal cardiac structural abnormalities.@*RESULTS@#The detection rates for chromosomal aneuploidies and CNVs in the abnormal group were significantly higher than that in the normal group (P< 0.05), and the incidence of fetal cardiac structural abnormalities was strongly associated with chromosomal aneuploidies and CNVs (P< 0.05).@*CONCLUSION@#Fetal chromosomal aneuploidies and CNVs are strongly associated with cardiac structural abnormalities.

Evaluation of contrast-enhanced ultrasound in treatment of ultrasound-guided high intensity focused ultrasound ablation for uterine adenomyosis / 重庆医学

Objective To evaluate the effect of contrast-enhanced ultrasound(CEUS) in the real-time monitoring treatment of ultrasound-guided high intensity focused ultrasound (HIFU ) for uterine adenomyosis .Methods From January 2013 to September 2013 ,a total of 67 patients who were clinically diagnosticated as uterine adenomyosis were enrolled in this study .49 patients were diffuse type and 18 patients were localized .CEUS was used before ,in ,after ultrasonic treatment to make sure lesions and evaluate the ablation effect .Results 67 patients were 100% perfused before HIFU treatment by CEUS ,the non-perfused volume ratio of 15 patients(22 .4% ) were not enough during treatment ,and more energy were given .During HIFU treatment ,uniform grey scale change was observed in 42 of 67(62 .7% ) patients and massive grey scale change was observed in 25 of 67(37 .3% ) patients .The margin of targets and the non-perfused volume were clearly detected by CEUS .The size of target andymyosis ,the volume ,the non-perfused volume ,and non-perfused volume ratio were(4 .8 ± 1 .5)cm ,(63 .1 ± 57 .2)cm3 ,(59 .1 ± 53 .4 )cm3 ,(76 .4 ± 27 .0)% .The adverse effects occurred in the treatment were not related to CEUS .Conclusion CEUS is an accurate method in assessing the treat-ment effect of HIFU and could be safely used during HIFU treatment for uterine adenomyosis .