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

Suhua Jiang; Xiangjie Peng; Fei Gong; Chuan Huang; Yangqin Peng; Xingyu Long; Ge Lin; Wenbing Zhu

doi:10.1016/j.fertnstert.2020.02.004

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

Fertil Steril. 2020 Jun;113(6):1196-1204.e1. doi: 10.1016/j.fertnstert.2020.02.004. Epub 2020 May 13.

Authors

Suhua Jiang¹, Xiangjie Peng², Fei Gong³, Chuan Huang², Yangqin Peng², Xingyu Long², Ge Lin³, Wenbing Zhu⁴

Affiliations

¹ Institute of Reproductive and Stem Cell Engineering, Basic Medicine College, Central South University, Changsha, Hunan, People's Republic of China.
² Reproductive and Genetic Hospital of China International Trust and Investment Corporation-Xiangya, Changsha, Hunan, People's Republic of China.
³ Institute of Reproductive and Stem Cell Engineering, Basic Medicine College, Central South University, Changsha, Hunan, People's Republic of China; Reproductive and Genetic Hospital of China International Trust and Investment Corporation-Xiangya, Changsha, Hunan, People's Republic of China.
⁴ Institute of Reproductive and Stem Cell Engineering, Basic Medicine College, Central South University, Changsha, Hunan, People's Republic of China; Reproductive and Genetic Hospital of China International Trust and Investment Corporation-Xiangya, Changsha, Hunan, People's Republic of China. Electronic address: zhuwenbing0971@sina.com.

PMID: 32416980
DOI: 10.1016/j.fertnstert.2020.02.004

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.

Keywords: Pre-implantation genetic screening (PGT-A); chromosome; disomy rate; sperm fluorescence in situ hybridization (FISH).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aneuploidy*
Chromosomes, Human*
Embryo Culture Techniques
Female
Genetic Testing*
Humans
In Situ Hybridization, Fluorescence
Infertility, Male / diagnosis*
Infertility, Male / genetics
Male
Predictive Value of Tests
Preimplantation Diagnosis*
Reproducibility of Results
Retrospective Studies
Spermatozoa*