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Journal of Assisted Reproduction and Genetics

, Volume 36, Issue 11, pp 2325–2331 | Cite as

Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing

  • Caiyi Huang
  • Wenjie Jiang
  • Yueting Zhu
  • Hongchang Li
  • Juanjuan Lu
  • Junhao YanEmail author
  • Zi-Jiang Chen
Assisted Reproduction Technologies
  • 169 Downloads

Abstract

Purpose

To report the normal live birth and birth defect rates pre- and post- preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) in reciprocal translocation carriers who have experienced two or more unfavorable pregnancy histories.

Methods

We conducted a retrospective cohort study of 194 couples who underwent 265 PGT-SR cycles between January 2013 and August 2016. The rates of miscarriage, normal live birth, and birth defect pre- and post- PGT-SR treatment were recorded. The types of birth defect were also categorized.

Results

Before PGT-SR treatment, the 194 couples with reciprocal translocation had a previous reproductive history consisting of 592 pregnancies in total: 496 (83.8%) were miscarriages; 29 (4.9%) ended by induced abortion due to unintended pregnancy; 36 (6.1%) had birth defects; and 17 (2.9%) were normal live births. After PGT-SR treatment, there were 118 clinical pregnancies. Of these pregnancies, 13 (11.0%) were miscarriages, 101 (85.6%) were normal live births, and 4 (3.4%) had birth defects. In total, 14 different disorders were noted in the prenatal and postnatal examinations. Before the PGT-SR treatment, multiple birth defects, central nervous system abnormalities, and congenital heart defects were the three most common congenital malformations. Excluding for methylmalonic acidemia, there were only single and mild birth defects after the PGT-SR treatment.

Conclusions

After the PGT-SR treatment, the reciprocal translocation carriers who had previously experienced two or more unfavorable pregnancy outcomes had a low risk of miscarriages and birth defects. The rate of normal live births per pregnancy was higher after PGT-SR treatment.

Keywords

Preimplantation genetic testing Balanced translocation Birth defect Miscarriage Live birth 

Notes

Acknowledgments

We sincerely thank Mei Li’s group for helping us with follow-up investigation and data collection. We are grateful to PGT-SR staff and all patients of Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University who made this study possible.

Funding information

This study was financially supported by grant from the National Key Research and Development Program of China (2016YFC1000202) and General Program of National Natural Science Foundation of China (81671522).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Neri G, Serra A, Campana M, Tedeschi B. Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. Am J Med Genet . United States. 1983;16:535–61.CrossRefGoogle Scholar
  2. 2.
    Kozlowska K, Panasiuk B, Stasiewicz-Jarocka B, Lurie IW, Chrzanowska K, Lenkiewicz M, et al. Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7. Ginekol Pol Poland. 2013;84:992–1004.CrossRefGoogle Scholar
  3. 3.
    Zhang Y, Xu J, Yin M, Chen M, Ren D. Pregnancy outcomes of 194 couples with balanced translocations. Zhonghua Fu Chan Ke Za Zhi China. 2006;41:592–6.PubMedGoogle Scholar
  4. 4.
    Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature England. 1990;344:768–70.CrossRefGoogle Scholar
  5. 5.
    Kato K, Aoyama N, Kawasaki N, Hayashi H, Xiaohui T, Abe T, et al. Reproductive outcomes following preimplantation genetic diagnosis using fluorescence in situ hybridization for 52 translocation carrier couples with a history of recurrent pregnancy loss. J Hum Genet England. 2016;61:687–92.CrossRefGoogle Scholar
  6. 6.
    Fischer J, Colls P, Escudero T, Munne S. Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril. 2010;94:283–9.CrossRefGoogle Scholar
  7. 7.
    Keymolen K, Staessen C, Verpoest W, Liebaers I, Bonduelle M. Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles. Eur J Hum Genet. 2012;20:376–80.CrossRefGoogle Scholar
  8. 8.
    Tan YQ, Tan K, Zhang SP, Gong F, Cheng DH, Xiong B, et al. Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers. Hum Reprod. 2013;28:2581–92.CrossRefGoogle Scholar
  9. 9.
    Idowu D, Merrion K, Wemmer N, Mash JG, Pettersen B, Kijacic D, et al. Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations. Fertil Steril. 2015;103:1037–42.CrossRefGoogle Scholar
  10. 10.
    Colls P, Escudero T, Fischer J, Cekleniak NA, Ben-Ozer S, Meyer B, et al. Validation of array comparative genome hybridization for diagnosis of translocations in preimplantation human embryos. Reprod BioMed Online. 2012;24:621–9.CrossRefGoogle Scholar
  11. 11.
    Davies MJ, Moore VM, Willson KJ, Van Essen P, Priest K, Scott H, et al. Reproductive technologies and the risk of birth defects. N Engl J Med United States. 2012;366:1803–13.CrossRefGoogle Scholar
  12. 12.
    Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod. 2006;21:1076–82.CrossRefGoogle Scholar
  13. 13.
    Franssen MTM, Musters AM, van der Veen F, Repping S, Leschot NJ, Bossuyt PMM, et al. Reproductive outcome after PGD in couples with recurrent miscarriage carrying a structural chromosome abnormality: a systematic review. Hum Reprod Update England. 2011;17:467–75.CrossRefGoogle Scholar
  14. 14.
    Franssen MTM, Korevaar JC, van der Veen F, Leschot NJ, Bossuyt PMM, Goddijn M. Reproductive outcome after chromosome analysis in couples with two or more miscarriages: index [corrected]-control study. BMJ. England. 2006;332:759–63.CrossRefGoogle Scholar
  15. 15.
    Ozawa N, Maruyama T, Nagashima T, Ono M, Arase T, Ishimoto H, et al. Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated pregnancy loss. Fertil Steril; Elsevier. 2008;90:1301–4.CrossRefGoogle Scholar
  16. 16.
    Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, Rienzi L, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod. 2011;26:1925–35.CrossRefGoogle Scholar
  17. 17.
    Pundir J, Magdalani L, El-Toukhy T. Outcome of preimplantation genetic diagnosis using FISH analysis for recurrent miscarriage in low-risk reciprocal translocation carriers. Eur J Obstet Gynecol Reprod Biol Elsevier. 2016;203:214–9.CrossRefGoogle Scholar
  18. 18.
    Bay B, Ingerslev HJ, Lemmen JG, Degn B, Rasmussen IA, Kesmodel US. Preimplantation genetic diagnosis: a national multicenter obstetric and neonatal follow-up study. Fertil Steril Elsevier. 2016;106:1363–1369.e1.CrossRefGoogle Scholar
  19. 19.
    Sharpe AN, Choudhary M. Reproductive outcome following pre-implantation genetic diagnosis (PGD) - an analysis of UK national database over two decades. Fertil Steril. 2015;104:e281 Available.CrossRefGoogle Scholar
  20. 20.
    Desmyttere S, De Rycke M, Staessen C, Liebaers I, De Schrijver F, Verpoest W, et al. Neonatal follow-up of 995 consecutively born children after embryo biopsy for PGD. Hum Reprod. 2012;27:288–93.CrossRefGoogle Scholar
  21. 21.
    Sugiura-Ogasawara M, Aoki K, Fujii T, Fujita T, Kawaguchi R, Maruyama T, et al. Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement. J Hum Genet. 2008;53:622.CrossRefGoogle Scholar
  22. 22.
    Van Der Bom T, Zomer AC, Zwinderman AH, Meijboom FJ, Bouma BJ, Mulder BJM. The changing epidemiology of congenital heart disease. Nat Rev Cardiol. 2011.Google Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Caiyi Huang
    • 1
    • 2
    • 3
    • 4
    • 5
  • Wenjie Jiang
    • 3
    • 4
    • 5
  • Yueting Zhu
    • 3
    • 4
    • 5
  • Hongchang Li
    • 3
    • 4
    • 5
  • Juanjuan Lu
    • 3
    • 4
    • 5
  • Junhao Yan
    • 3
    • 4
    • 5
    Email author
  • Zi-Jiang Chen
    • 1
    • 2
    • 3
    • 4
    • 5
  1. 1.Center for Reproductive Medicine, Ren Ji Hospital, School of MedicineShanghai Jiao Tong UniversityShanghaiChina
  2. 2.Shanghai Key Laboratory for Assisted Reproduction and Reproductive GeneticsShanghaiChina
  3. 3.Center for Reproductive MedicineShandong Provincial Hospital Affiliated to Shandong UniversityJinanChina
  4. 4.National Research Center for Assisted Reproductive Technology and Reproductive GeneticsJinanChina
  5. 5.The Key Laboratory for Reproductive Endocrinology of Ministry of EducationJinanChina

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