Perinatology.  2020 Jun;31(2):67-73. 10.14734/PN.2020.31.2.67.

Association between Ultrasonography Findings and Abnormal Karyotypes in Early Pregnancy Loss

  • 1Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, Seoul, Korea


Chromosomal abnormality in the fetus is a major cause of early pregnancy loss (EPL). It is considered that maternal age is a risk factor of chromosomal abnormality in the fetus. The objective of this study was to evaluate the association between ultrasonography findings and abnormal karyotypes in EPL.
This retrospective analysis assessed 217 cases of EPL occurring between 2009 and 2018, which have the results of cytogenetic analysis following miscarriage, as well as the ultrasonography finding. The correlations between the ultrasonography findings and the karyotypes were evaluated.
Of the 217 cases, after excluding cases with no mitotic cells, karyotypes analysis was performed in 190 cases. The overall rate of abnormal karyotypes was 32.1% (61/190). Mean maternal age was significantly higher in the abnormal karyotype group (35.66±4.22 vs. 33.79±4.02 years, respectively, P=0.006). The embryo/gestational sac ratios was significantly smaller in the abnormal karyotype group (0.3±0.18 vs. 0.43±0.3, P=0.022). In the multivariate logistic regression analysis, smaller embryo/gestational sac ratios (≤0.4) was a significant risk factor of abnormal karyotype (adjusted odds ratio [OR] 2.43, 95% confidence interval [CI]: 1.086–5.437, P=0.031), after the adjustment with the number of previous abortion. The chromosomal abnormality rate was significantly higher in male miscarriage (adjusted OR 2.36, 95% CI: 1.003–5.443, P=0.049).
By identifying a predictive factor of chromosomal abnormalities in embryonic abortion, this study presented ultrasonography findings to consider cytogenetic analysis and an easy-to-use cut off value, small embryo/gestational sac ratio (≤0.4) at a patient’s request of chromosomal study in the fetus.


Abortion; Spontaneous; Chromosome aberrations; Ultrasonography
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