The role of total chromosomal disomy in human spermatozoa as a predictor of the outcome of pre-implantation genetic screening

There is a potential role for whole genome of sperm disomy rate in patients who underwent PGT-A as a predictor, as well as in future genetic counselling.

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Volume 113, Issue 6, Pages 1196–1204.e1

Authors:

Suhua Jiang, M.S., Xiangjie Peng, M.S., Fei Gong, M.D., Ph.D., Chuan Huang, Ph.D., Yangqin Peng, M.S., Xingyu Long, Ph.D., Ge Lin, M.D., Ph.D., Wenbing Zhu, M.D., Ph.D.

Abstract:

Objective

To assess the efficacy of sperm disomy rate as a predictor of preimplantation genetic screening (PGT-A) outcomes.

Design

Retrospective cohort study.

Setting

Andrology laboratory and in vitro fertilization center.

Patient(s)

All patients (n = 123) who underwent sperm fluorescence in situ hybridization and PGT-A at the China International Trust and Investment Corporation Xiangya Reproductive and Genetic Hospital between January 2015 and November 2018 were included.

Intervention(s)

Sperm samples of all patients evaluated for elevated disomy levels of 24 chromosomes using multicolor sperm fluorescence in situ hybridization and all embryos were cultured and biopsied at the blastocyst stage for PGT-A.

Main Outcome Measure(s)

The relationship between the whole genome of sperm disomy rate and PGT-A outcome and the predictive effect of the whole genome of sperm disomy rate on PGT-A outcome.

Result(s)

A statistically significant correlation was observed between the sperm disomy rate and PGT-A outcome. Many confounders were considered, such as patients’ factors, semen or laboratory characteristics, which may affect PGT-A outcome. Regression analysis excluding these confounding factors indicated a 2.071-fold decrease in odds of probability of not obtaining any euploid embryo to transfer for every 1% decrease in total disomy rate. Based on a total disomy rate threshold of 4.84%, the prediction ability of total disomy rate on PGT-A outcome reached 75.6%.

Conclusion(s)

There is a negative correlation between the whole genome of sperm disomy rate and PGT-A outcome. It is a potential role for whole genome of sperm disomy rate in the PGT-A patients as a predictor, as well as in future genetic counselling. Based on these results, genetic counselors can advise couples on the risk of not obtaining any euploid embryo and help them choose the best reproductive and diagnostic method.

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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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