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

  • Genetics
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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 fertilization-embryo 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.

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Acknowledgments

The authors than Lizhi Huang, Yueer Li, Qingqing Wu, and Kailan Xiong for assistance in collecting and sorting raw data. The authors wish to thank Genetic Center of Reproductive and Genetic Hospital of CITIC-Xiangya for providing professional consulting and help in collecting and analyzing genetic data.

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Correspondence to Yueqiu Tan or Guangxiu Lu.

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Funding

This study was supported by the National Natural Science (No. 81471432), State Key Development Program for Basic Research of China (No.2012CB944901) and the Scientific Research Foundation of Reproductive and Genetic Hospital of Citic-Xiangya.

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Capsule This study aimed to analyze the correlation between ultrasound findings and abnormal karyotypes in EPLs after IVF. The results suggest that chromosomal anomalies may be associated with specific types of ultrasound findings.

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Li, X., Ouyang, Y., Yi, Y. et al. Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer. J Assist Reprod Genet 34, 43–50 (2017). https://doi.org/10.1007/s10815-016-0821-2

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  • DOI: https://doi.org/10.1007/s10815-016-0821-2

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