Conclusions
In conclusion, balanced translocation is the most common phenotype in RM carriers, and LBR of subsequent first pregnancy is similar to the non-carriers. The present studies can help to provide more scientific clinical consultation, such as more accurate diagnosis and the prognostic outcome of subsequent pregnancy, and help doctors to raise awareness of miscarriage-related chromosome problems and foster a theoretical basis for reasonable treatment.
Figure 1. The flow chart presents the process of collecting abnormal chromosomal carriers from 5680 RM couples in our Outpatient service.
Figure 2. A. The distribution of four aberrant types in the 121 RM couples. B. The respective numbers of female and male in the four aberrant type couples. C and D. The distribution of four aberrant types in the 55 pregnancy and 66 non-pregnancy couples.
Figure 3. The percents of aberrant chromosome No. in the balanced translocation and inversion RM patients.
Figure 4. The live birth rates in the non-carriers and carriers of four aberrant types.
Table 1. Analysis of combined non-genetic etiological factors and live birth rate of 229 RM non-carriers and 55 carriers.
Table 2. Detailed chromosome karyotype of 55 RM carriers and their pregnancy outcomes.
Table 3. Pregnancy outcomes of 34 RM couples with female carriers and 21 RM couples with male carriers.
Table 4. Other relevant causes of 40 RM couples with live birth and 15 RM couples with miscarriage again.
Disclosure of interests :All authors declare that they have no conflict of interest in the article.
Contribution to authorship: PS.Z played the role in the conception and planning, M.C collected the data, S. L analyzed and wrote up of the work.
Ethics approval: The study was approved of the Ethic Committee of The First Affiliated Hospital of Xi’an Jiaotong University according to the declaration of Helsinki.
Study funding: This work was supported by a grant to M.D. Li Shan from the National Natural Science Foundation of China (No. 81901497)
1. Bender Atik, R., et al., ESHRE guideline: recurrent pregnancy loss. Hum Reprod Open, 2018. 2018 (2): p. hoy004.
2. Kochhar, P.K. and P. Ghosh, Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J Obstet Gynaecol Res, 2013. 39 (1): p. 113-20.
3. Shahine, L. and R. Lathi, Recurrent pregnancy loss: evaluation and treatment. Obstet Gynecol Clin North Am, 2015. 42 (1): p. 117-34.
4. Larsen, E.C., et al., New insights into mechanisms behind miscarriage. BMC Med, 2013. 11 : p. 154.
5. Sánchez, J.M., et al., Cytogenetic study of spontaneous abortions by transabdominal villus sampling and direct analysis of villi. Prenat Diagn, 1999. 19 (7): p. 601-3.
6. Stern, J.J., et al., Frequency of abnormal karyotypes among abortuses from women with and without a history of recurrent spontaneous abortion. Fertil Steril, 1996. 65 (2): p. 250-3.
7. Ogasawara, M., et al., Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril, 2000.73 (2): p. 300-4.
8. Carp, H., et al., Karyotype of the abortus in recurrent miscarriage. Fertil Steril, 2001. 75 (4): p. 678-82.
9. Flynn, H., et al., Comparison of reproductive outcome, including the pattern of loss, between couples with chromosomal abnormalities and those with unexplained repeated miscarriages. J Obstet Gynaecol Res, 2014. 40 (1): p. 109-16.
10. ACOG practice bulletin. Management of recurrent pregnancy loss. Number 24, February 2001. (Replaces Technical Bulletin Number 212, September 1995). American College of Obstetricians and Gynecologists.Int J Gynaecol Obstet, 2002. 78 (2): p. 179-90.
11. Stephenson, M.D. and S. Sierra, Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod, 2006. 21 (4): p. 1076-82.
12. Elkarhat, Z., et al., Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review. J Assist Reprod Genet, 2019. 36 (3): p. 499-507.
13. Lizneva, D., et al., Criteria, prevalence, and phenotypes of polycystic ovary syndrome. Fertil Steril, 2016. 106 (1): p. 6-15.
14. Coccia, M.E. and F. Rizzello, Ovarian reserve. Ann N Y Acad Sci, 2008. 1127 : p. 27-30.
15. Diejomaoh, M.F., Recurrent spontaneous miscarriage is still a challenging diagnostic and therapeutic quagmire. Med Princ Pract, 2015.24 Suppl 1 (Suppl 1): p. 38-55.
16. Redin, C., et al., The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nat Genet, 2017. 49 (1): p. 36-45.
17. Popescu, F., C.R. Jaslow, and W.H. Kutteh, Recurrent pregnancy loss evaluation combined with 24-chromosome microarray of miscarriage tissue provides a probable or definite cause of pregnancy loss in over 90% of patients. Hum Reprod, 2018. 33 (4): p. 579-587.
18. Fryns, J.P. and G. Van Buggenhout, Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur J Obstet Gynecol Reprod Biol, 1998. 81 (2): p. 171-6.
19. Morin, S.J., et al., Translocations, inversions and other chromosome rearrangements. Fertil Steril, 2017. 107 (1): p. 19-26.
20. Carp, H., et al., Parental karyotype and subsequent live births in recurrent miscarriage. Fertil Steril, 2004. 81 (5): p. 1296-301.
21. Goddijn, M., et al., Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage. Hum Reprod, 2004. 19 (4): p. 1013-7.
22. Franssen, M.T., et al., Reproductive outcome after chromosome analysis in couples with two or more miscarriages: index [corrected]-control study. Bmj, 2006. 332 (7544): p. 759-63.
23. Sugiura-Ogasawara, M., et al., Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement. J Hum Genet, 2008.53 (7): p. 622-628.
24. Murugappan, G., et al., Intent to treat analysis of in vitro fertilization and preimplantation genetic screening versus expectant management in patients with recurrent pregnancy loss. Hum Reprod, 2016.31 (8): p. 1668-74.
25. Maithripala, S., et al., Prevalence and Treatment Choices for Couples with Recurrent Pregnancy Loss Due to Structural Chromosomal Anomalies. J Obstet Gynaecol Can, 2018. 40 (6): p. 655-662.
26. Iews, M., et al., Does preimplantation genetic diagnosis improve reproductive outcome in couples with recurrent pregnancy loss owing to structural chromosomal rearrangement? A systematic review.Reprod Biomed Online, 2018. 36 (6): p. 677-685.
27. Hyde, K.J. and D.J. Schust, Genetic considerations in recurrent pregnancy loss. Cold Spring Harb Perspect Med, 2015.5 (3): p. a023119.
28. van den Berg, M.M., et al., Genetics of early miscarriage.Biochim Biophys Acta, 2012. 1822 (12): p. 1951-9.
29. Carp, H., et al., Embryonic karyotype in recurrent miscarriage with parental karyotypic aberrations. Fertil Steril, 2006.85 (2): p. 446-50.
30. Desjardins, M.K. and M.D. Stephenson, ”Information-rich” reproductive outcomes in carriers of a structural chromosome rearrangement ascertained on the basis of recurrent pregnancy loss.Fertil Steril, 2012. 97 (4): p. 894-903.
31. Dong, Z., et al., Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage. Am J Hum Genet, 2019. 105 (6): p. 1102-1111.