Abstract: PD13-01
Sources of Funding: AWP is a K12 scholar supported by a Male Reproductive Health Research (MRHR) Career Development Physician-Scientist Award (Grant # HD073917-01 to DJL) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Program. This work is also supported in part by the Burnett Research Fund.

Introduction

Embryos conceived by men with sperm aneuploidy are at increased risk for implantation failure (IF) or spontaneous abortion (SAB) and can be assessed using fluorescent in situ hybridization (FISH). The relationship between sperm FISH findings and risk of SAB or IF is unclear. Here we investigate the reproductive outcomes of couples with abnormal sperm FISH results._x000D_ _x000D_

Methods

Telephone survey and chart review of men with sperm FISH testing and semen analysis was performed. Male age, female age, and female reproductive factors were recorded for each live birth, SAB, and IF. Sperm aneuploidy was defined using FISH, which examines autosomes 13, 18, 21, and the sex chromosomes. We performed linear regression to assess the impact of sperm aneuploidy FISH results on pregnancy outcomes. _x000D_

Results

Data were collected from 99 men with 434 reproductive outcomes. Of 99 sperm FISH tests, 94 were abnormal. Mean±SD male age was 37.1±7.3 years, female age was 33.4±5.0 years, and length of infertility was 47.4±33.9 months. Total number of abnormal FISH components (range 0-4, with each chromosomal abnormality considered an abnormal FISH component) was found to best model SAB risk. Controlling for female age and semen parameters, the total number of abnormal FISH components significantly predicted SABs (p=0.001). Each additional abnormal FISH component increased the risk of SAB by 9.33% (p=0.001) for all reproductive outcomes. When only pregnancies achieved through natural conception were considered, the risk of SAB increased by 10.4% with each abnormal FISH component (p=0.003). Female age approached significance in both models; each year increased the risk of SAB by 1.2% (p=0.081). Sperm disomy, male age, female reproductive factors, semen volume, sperm density, and sperm motility did not predict SABs (p>0.05) (Figure 1). Abnormal FISH testing did not predict IF (p=0.259). The overall pregnancy rate in men with abnormal sperm FISH was 0.95% using IUI, 10.2% using IVF, 14.8% using IVF/ICSI, and 50% when preimplantation genetic screening (PGS) was added to IVF. _x000D_

Conclusions

The incidence of aneuploid abnormalities of chromosomes 13, 18, 21, and the sex chromosomes on sperm FISH testing predicts SABs. Couples with abnormal sperm FISH results should be counseled regarding the potential negative pregnancy outcomes, and IVF with PGS discussed._x000D_ _x000D_

Funding

AWP is a K12 scholar supported by a Male Reproductive Health Research (MRHR) Career Development Physician-Scientist Award (Grant # HD073917-01 to DJL) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Program. This work is also supported in part by the Burnett Research Fund.