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

Abstract

Purpose The purpose of the study is to evaluate the correlation between ultrasound findings and abnormal karyotypes in early pregnancy losses (EPLs) after in vitro fertilizationembryo transfer (IVF-ET). Methods This retrospective analysis assessed 2172 cases of EPL after IVF-ET occurring between January 2008 and December 2013. The cases were examined via transvaginal ultrasonography (TVS). Embryonic tissue karyotyping following miscarriage was performed using a comparative genomic hybridization (CGH) analysis with fluorescence in situ hybridization (FISH). The correlations between the ultrasound findings and the karyotypes were evaluated. Results Six categories of ultrasound findings were observed: normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth. The overall rate of abnormal karyotypes was 44.9 % (976/2172), and the rate of abnormal karyotypes associated with a normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth was 49.5 % (218/440), 28.1 % (138/491), 43.4 % (197/454), 50.0 % (43/86), 49.8 % (155/311), and 57.7 % (225/390), respectively. Compared with the other groups, the prevalence of chromosomal abnormalities was significantly higher in the early symmetrical arrested growth group but was markedly lower in the empty sac group in all cases and when cases of 46,XX were excluded (p < 0.05). Trisomy 16 was the most common chromosomal abnormality in the yolk sac only, small embryonic pole and early symmetrical arrested growth groups. In the empty sac, small gestational sac and normal ultrasound groups, monosomy X was the most frequent abnormality. Conclusions Chromosomal anomalies may be associated with specific types of ultrasound findings in EPLs after IVF-ET.

A Yolk Sac Larger Than 5 mm Suggests an Abnormal Fetal Karyotype, Whereas an Absent Embryo Indicates a Normal Fetal Karyotype

“…Several reports reported that an absent embryo was correlated with a normal fetal karyotype, which support our results. However, these studies did not include a multivariate analysis.…”

“…The gestational age at diagnosis of miscarriage was earlier in the cases with absent embryo patterns than in the cases with embryos. Several reports reported that an absent embryo was correlated with a normal fetal karyotype, 21,22,24,25,27,28 which support our results. However, these studies did not include a multivariate analysis.…”

“…19,20 Conversely, there have been a few reports that showed an association between an abnormal karyotype and US findings in the gestational sac, [21][22][23] yolk sac, 21,24 and embryo or fetus. 21,22,[24][25][26][27][28][29][30][31] However, to our knowledge, no studies have investigated whether there is a correlation between an abnormal fetal karyotype and US findings by a multivariate analysis on the basis of each structure, such as the gestational sac, yolk sac, and embryo. In this study, we comprehensively investigated what structural or US morphologic findings (gestational sac, yolk sac, and embryo) were most effective for estimating an abnormal fetal karyotype in early miscarriages before 12 weeks' gestation, including clinical characteristics.…”

Cytogenetic testing of pregnancy loss tissue: a meta-analysis

“…Three out of 15 studies identified polyploidy by using aCGH (Gliem and Aypar, 2017;Rosenfeld et al, 2015;Shen et al, 2016). Other studies reporting on polyploidies used fluorescence in-situ hybridization (FISH) or flow cytometry in addition to aCGH (Li et al, 2017;Menten et al, 2009;Robberecht et al, 2012).…”

Prediction key genes and the potential molecular mechanism for early recurrent pregnancy loss by Multi-Omics analysis

“…However, Reus et al suggested that although a decrease in villus angiogenesis could be observed in the abortion tissues of women with recurrent pregnancy loss, there was no significant difference in the degree of vascularization between empty sac miscarriage and embryonic miscarriage [20] . Previous studies have shown that the size of yolk sac is related to the results of specific types of ultrasound [21] . However, research on the relationship between ultrasound and normal karyotype abortion is lacking.…”