The analysis of the correlations between ultrasound phenotypes and genetic detection results in early pregnancy loss
Objective To explore the correlations between ultrasound phenotypes and genetic detection results in early pregnancy loss(EPL).Methods We collected the ultrasound phenotypes,and genetic detection results in 1 279 EPL cases.Then we classified these data by different groups and performed statistical analysis.Results Total of 908 chromosomal aberrations were detected in 818 EPL cases,including aneuploidies(772,85.02％),pathogenic copy number variations(pCNVs)(97,10.68％),and triploidy(39,4.30％),among which trisomy-16(163,17.95％),monosomy X(143,15.75％),and trisomy 22(117,12.89％)occupied higher frequencies.The proportions of"empty sac"were relatively higher in the negative group(164/461,35.57％),and the groups of multiple aberrations(31/79,39.24％),pCNVs(28/56,50.00％)and mosaic single aberration(SA)(36/89,40.45％)(P＜0.05).The means of gestational sac diameter(GSD)and crown-rump length were relatively higher in the groups of SA,sex chromosome aneuploidy and uniform SA(P＜0.05).Around 5th-8th gestational weeks,GSD＜50th related to chromosomal abnormalities(P＜0.05).The area under the ultrasonographic measurements receiver operating characteristic curve(AUC)in different gestational weeks were 0.444,0.401,0.485,0.494 and 0.498.Conclusions The predictive ability for chromosomal abnormalities by ultrasonographic measurements is limited,however,the impact imposed on embryo development by various chromosomal constitutions may be different.
early pregnancy lossultrasoundchromosomal abnormalities
万方数据
维普
