Comparison of ultrasonographic findings in spontaneous abortions with normal and abnormal karyotypes

Abstract

To determine whether ultrasonographic findings can predict the karyotype of spontaneous abortions, 137 pregnancies (54 spontaneous, 83 assisted ovulatory cycles) that subsequently aborted and had chromosome analysis performed on the products of conception were studied ultrasonographically. Transvaginal ultrasound was performed using an Acuson 128XP/10 with 7.5 MHz probe. The numbers of empty gestational sacs, small and normal for gestational size, embryonic poles and embryos with documented cardiac activity were calculated. The frequency of each of these findings in pregnancies with normal and abnormal karyotypes was compared. Of the 137 spontaneous abortions, 51 had normal chromosome analyses and 86 had abnormal karyotypes (68 aneuploidies and 18 polyploidies). Ultrasonographic findings in the 51 karyotypically normal pregnancies included 16 (31%) with empty gestational sacs, and 35 (69%) with embryonic poles, of which 24 (69%) were at least 1 week smaller than expected for gestational age and 11 (31%) were the expected size. Embryonic cardiac activity was documented in 22 (63%) of the 35 embryonic poles. Amongst 86 pregnancies with abnormal karyotypes, similar frequencies of ultrasound findings were found: 23 (27%) with empty gestational sacs, 42 (67%) with embryonic poles smaller than expected for gestational age, and 50 (79%) embryos lost after documentation of embryonic cardiac activity. No differences in the frequency of ultrasonographic findings of empty gestational sacs, small embryonic pole and embryonic cardiac activity were observed between karyotypically normal and abnormal spontaneous abortions. Ultrasonographic findings cannot predict the karyotype of spontaneous abortions.

Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

“…Previous studies have shown different results for the correlation between a small embryonic pole and abnormal karyotypes [17,18] (Table 3). In this study, the abnormality rate in the small embryonic pole group was similar to that of the other groups, including the group with normal ultrasound findings, which is inconsistent with the results of Angiolucci et al [18].…”

“…Goldstein et al and Coulam et al reported that ultrasound findings should not be used to predict the karyotypes associated with spontaneous miscarriages [16,17]. However, recent studies have demonstrated correlations between ultrasound findings and chromosomal anomalies [18,19].…”

“…Empty gestational sacs have been studied previously, and the results describing their correlation with abnormal karyotypes are inconsistent [5,[16][17][18] (Table 3). Many previous studies are prone to correlate empty gestational sacs with a high prevalence of abnormal karyotypes [16][17][18]. However, Hsin-Hsin et al [29] and Romero et al [5] found a relatively low prevalence of genetic abnormalities associated with pre-embryonic losses.…”

Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy

“…On the other hand, in a series of 137 miscarriages, Coulam et al (11) did not find a relation between ultrasound findings and karyotype. However, the sample included mainly women who had undergone fertility treatment or IVF, and the mean age of subjects was 36 years (11).…”

Trisomy 1 in an early pregnancy failure

“…But absence of embryonic pole development and fetal heart beat indicates that it prevents embryo development. Although, investigations of association between certain karyotype and ultrasonographic findings in failed pregnancies showed that correlation does not exist [Coulam et al, 1997], these four cases indicate that trisomy 1 correlates with diagnosis of blighted ovum. hCG, human chorionic gonadothropin; GS, gestational sac; YS, yolk sac; FHB, fetal heart beat; LMP, last menstrual period.…”