Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases

Chances for identifying normal/balanced blastocysts in patients with complex chromosomal rearrangements are <6%, the chances for pregnancy <4%, and the greater the complexity, the fewer the trans- plantable embryos.

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Volume 109, Issue 3, Pages 486–492

Authors:

Liang Hu, M.D., Ph.D., Yajing Wei, B.Sc., Keli Luo, M.D., Ph.D., Pingyuan Xie, Ph.D., Fei Gong, M.D., Ph.D., Bo Xiong, Ph.D., Yueqiu Tan, Ph.D., Guangxiu Lu, M.D., Ge Lin, M.D., Ph.D.

Abstract:

Objective

To evaluate the clinical outcomes in carriers of complex chromosomal rearrangements (CCRs).

Design

Case series.

Setting

An institute for reproductive and stem cell engineering.

Patient(s)

Seven couples with CCRs.

Intervention(s)

Assisted reproduction with preimplantation genetic diagnosis (PGD).

Main Outcome Measure(s)

PGD results, embryo rating, pregnancy outcomes.

Result(s)

In cases 1, 2, 3, 4, 5, and 6, each woman underwent one cycle of PGD. Case 7 underwent two PGD cycles. We obtained 51 blastocysts from seven couples with CCR, of which 47 were eligible for biopsy; only 3 (5.9%) were normal/balanced, and 2 (3.9%) conceptions resulted. One healthy baby girl was born (the other was not yet born at the time of publication). Karyotyping revealed that the healthy baby girl was 46,XX. Although the patient with both a balanced translocation and a CCR (case 7) had 12 embryos available for biopsy, all were chromosomally unbalanced. It is interesting that 22 (57.9%) of the total 38 blastocysts were of high quality for type A CCRs, and 2 (15.4%) of the total 13 blastocysts were of high quality for type B CCR at day 6 after fertilization.

Conclusion(s)

The chances of identifying normal/balanced blastocysts in patients with CCR are <6%; the chances of a pregnancy are <4%. Greater complexity CCRs result in fewer transplantable embryos. Moreover, CCRs of greater complexity have a lower rate of high quality blastocysts than CCRs of less complexity.


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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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