Sperm DNA fragmentation testing: Summary evidence and clinical practice recommendations

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Abstract

We herein summarise the evidence concerning the impact of sperm DNA fragmentation in various clinical infertility scenarios and the advances on sperm DNA fragmentation tests. The collected evidence was used to formulate 41 recommendations. Of these, 13 recommendations concern technical aspects of sperm DNA fragmentation testing, including pre‐analytical information, clinical thresholds and interpretation of results. The remaining 28 recommendations relate to indications for sperm DNA fragmentation testing and clinical management. Clinical scenarios like varicocele, unexplained infertility, idiopathic infertility, recurrent pregnancy loss, intrauterine insemination, in vitro fertilisation/intracytoplasmic sperm injection, fertility counselling for men with infertility risk factors and sperm cryopreservation have been contemplated. The bulk evidence supporting the recommendations has increased in recent years, but it is still of moderate to low quality. This guideline provides clinicians with advice on best practices in sperm DNA fragmentation testing. Also, recommendations are provided on possible management strategies to overcome infertility related to sperm DNA fragmentation, based on the best available evidence. Lastly, we identified gaps in knowledge and opportunities for research and elaborated a list of recommendations to stimulate further investigation.

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A unique view on male infertility around the globe

Ashok Agarwal, Aditi Mulgund, Alaa Hamada … (2015)

Background Infertility affects an estimated 15% of couples globally, amounting to 48.5 million couples. Males are found to be solely responsible for 20-30% of infertility cases and contribute to 50% of cases overall. However, this number does not accurately represent all regions of the world. Indeed, on a global level, there is a lack of accurate statistics on rates of male infertility. Our report examines major regions of the world and reports rates of male infertility based on data on female infertility. Methods Our search consisted of systematic reviews, meta-analyses, and population-based studies by searching the terms “epidemiology, male infertility, and prevalence.” We identified 16 articles for detailed study. We typically used the assumption that 50% of all cases of infertility are due to female factors alone, 20-30% are due to male factors alone, and the remaining 20-30% are due to a combination of male and female factors. Therefore, in regions of the world where male factor or rates of male infertility were not reported, we used this assumption to calculate general rates of male factor infertility. Results Our calculated data showed that the distribution of infertility due to male factor ranged from 20% to 70% and that the percentage of infertile men ranged from 2·5% to 12%. Infertility rates were highest in Africa and Central/Eastern Europe. Additionally, according to a variety of sources, rates of male infertility in North America, Australia, and Central and Eastern Europe varied from 4 5-6%, 9%, and 8-12%, respectively. Conclusion This study demonstrates a novel and unique way to calculate the distribution of male infertility around the world. According to our results, at least 30 million men worldwide are infertile with the highest rates in Africa and Eastern Europe. Results indicate further research is needed regarding etiology and treatment, reduce stigma & cultural barriers, and establish a more precise calculation.

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The International Glossary on Infertility and Fertility Care, 2017 † ‡ §

Fernando Zegers-Hochschild, G David Adamson, Silke Dyer … (2017)

Abstract STUDY QUESTION Can a consensus and evidence-driven set of terms and definitions be generated to be used globally in order to ensure consistency when reporting on infertility issues and fertility care interventions, as well as to harmonize communication among the medical and scientific communities, policy-makers, and lay public including individuals and couples experiencing fertility problems? SUMMARY ANSWER A set of 283 consensus-based and evidence-driven terminologies used in infertility and fertility care has been generated through an inclusive consensus-based process with multiple stakeholders. WHAT IS KNOWN ALREADY In 2006 the International Committee for Monitoring Assisted Reproductive Technologies (ICMART) published a first glossary of 53 terms and definitions. In 2009 ICMART together with WHO published a revised version expanded to 87 terms, which defined infertility as a disease of the reproductive system, and increased standardization of fertility treatment terminology. Since 2009, limitations were identified in several areas and enhancements were suggested for the glossary, especially concerning male factor, demography, epidemiology and public health issues. STUDY DESIGN, SIZE, DURATION Twenty-five professionals, from all parts of the world and representing their expertise in a variety of sub-specialties, were organized into five working groups: clinical definitions; outcome measurements; embryology laboratory; clinical and laboratory andrology; and epidemiology and public health. Assessment for revisions, as well as expansion on topics not covered by the previous glossary, were undertaken. A larger group of independent experts and representatives from collaborating organizations further discussed and assisted in refining all terms and definitions. PARTICIPANTS/MATERIALS, SETTING, METHODS Members of the working groups and glossary co-ordinators interacted through electronic mail and face-to-face in international/regional conferences. Two formal meetings were held in Geneva, Switzerland, with a final consensus meeting including independent experts as well as observers and representatives of international/regional scientific and patient organizations. MAIN RESULTS AND THE ROLE OF CHANCE A consensus-based and evidence-driven set of 283 terminologies used in infertility and fertility care was generated to harmonize communication among health professionals and scientists as well as the lay public, patients and policy makers. Definitions such as ‘fertility care’ and ‘fertility awareness’ together with terminologies used in embryology and andrology have been introduced in the glossary for the first time. Furthermore, the definition of ‘infertility’ has been expanded in order to cover a wider spectrum of conditions affecting the capacity of individuals and couples to reproduce. The definition of infertility remains as a disease characterized by the failure to establish a clinical pregnancy; however, it also acknowledges that the failure to become pregnant does not always result from a disease, and therefore introduces the concept of an impairment of function which can lead to a disability. Additionally, subfertility is now redundant, being replaced by the term infertility so as to standardize the definition and avoid confusion. LIMITATIONS, REASONS FOR CAUTION All stakeholders agreed to the vast majority of terminologies included in this glossary. In cases where disagreements were not resolved, the final decision was reached after a vote, defined before the meeting as consensus if passed with 75%. Over the following months, an external expert group, which included representatives from non-governmental organizations, reviewed and provided final feedback on the glossary. WIDER IMPLICATIONS OF THE FINDINGS Some terminologies have different definitions, depending on the area of medicine, for example demographic or clinical as well as geographic differences. These differences were taken into account and this glossary represents a multinational effort to harmonize terminologies that should be used worldwide. STUDY FUNDING/COMPETING INTERESTS None. TRIAL REGISTRATION NUMBER N/A.

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Rate of de novo mutations, father’s age, and disease risk

Augustine Kong, Michael L. Frigge, Gisli Masson … (2012)

Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. We conducted a study of genomewide mutation rate by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage. Here we show that in our samples, with an average father’s age of 29.7, the average de novo mutation rate is 1.20×10−8 per nucleotide per generation. Most strikingly, the diversity in mutation rate of single-nucleotide polymorphism (SNP) is dominated by the age of the father at conception of the child. The effect is an increase of about 2 mutations per year. After accounting for random Poisson variation, father’s age is estimated to explain nearly all of the remaining variation in the de novo mutation counts. These observations shed light on the importance of the father’s age on the risk of diseases such as schizophrenia and autism.

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Author and article information

Contributors

Sandro C. Esteves:

ORCID: https://orcid.org/0000-0002-1313-9680

s.esteves@androfert.com.br

Journal

Journal ID (nlm-ta): Andrologia

Journal ID (iso-abbrev): Andrologia

Journal ID (doi): 10.1111/(ISSN)1439-0272

Journal ID (publisher-id): AND

Title: Andrologia

Publisher: John Wiley and Sons Inc. (Hoboken )

ISSN (Print): 0303-4569

ISSN (Electronic): 1439-0272

Publication date (Electronic): 27 October 2020

Publication date (Print): March 2021

Volume: 53

Issue: 2 , An Update on Clinical Utility and Diagnostic Value of Various Andrological Techniques ( doiID: 10.1111/and.v53.2 )

Electronic Location Identifier: e13874

Affiliations

[ ¹ ] ANDROFERT, Andrology and Human Reproduction Clinic Referral Center for Male Reproduction Campinas SP Brazil

[ ² ] Department of Surgery (Division of Urology) University of Campinas (UNICAMP) Campinas SP Brazil

[ ³ ] Faculty of Health Aarhus University Aarhus Denmark

[ ⁴ ] Division of Urology Department of Surgery St. Mary's Hospital McGill University Montreal Québec Canada

[ ⁵ ] Department of Urology University of North Carolina Chapel Hill NC USA

[ ⁶ ] UNC Fertility Raleigh NC USA

[ ⁷ ] SCSA Diagnostics Brookings SD USA

[ ⁸ ] Sanford Medical School University of South Dakota Sioux Falls SD USA

[ ⁹ ] Unit of Genetics Department of Biology Universidad Autónoma de Madrid Madrid Spain

[ ¹⁰ ] Queens University Belfast Belfast UK

[ ¹¹ ] Examenlab Ltd. Belfast UK

[ ¹² ] American Center for Reproductive Medicine Cleveland Clinic Cleveland OH USA

[ ¹³ ] Fertility Clinic Skive Skive Regional Hospital Skive Denmark

Author notes

[*] [* ] Correspondence

Sandro C. Esteves, ANDROFERT, Andrology and Human Reproduction Clinic, Av. Dr. Heitor Penteado, 1463, Campinas 13075‐460, SP, Brazil.

Email: s.esteves@ 123456androfert.com.br

Author information

Sandro C. Esteves https://orcid.org/0000-0002-1313-9680

Armand Zini https://orcid.org/0000-0002-2194-5578

Robert Matthew Coward https://orcid.org/0000-0002-7698-1912

Donald P. Evenson https://orcid.org/0000-0002-5361-8299

Jaime Gosálvez https://orcid.org/0000-0003-3624-4261

Sheena E. M. Lewis https://orcid.org/0000-0001-5665-1572

Rakesh Sharma https://orcid.org/0000-0002-9664-6978

Peter Humaidan https://orcid.org/0000-0001-6884-5366

Article

Publisher ID: AND13874

DOI: 10.1111/and.13874

PMC ID: 7988559

PubMed ID: 33108829

SO-VID: 20f4f1ec-d923-421a-a48b-04ae3fd974b7

License:

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

History

Date revision received : 06 September 2020

Date received : 25 June 2020

Date accepted : 13 September 2020

Page count

Figures: 7, Tables: 5, Pages: 41, Words: 31585

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source-schema-version-number 2.0

cover-date March 2021

details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.0.0 mode:remove_FC converted:24.03.2021

Keywords: assisted reproductive technology,male infertility,practice guideline,semen analysis,sperm dna fragmentation

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Keywords: assisted reproductive technology, male infertility, practice guideline, semen analysis, sperm dna fragmentation

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Sperm DNA fragmentation testing: Summary evidence and clinical practice recommendations

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Most cited references 311

A unique view on male infertility around the globe

The International Glossary on Infertility and Fertility Care, 2017 † ‡ §

Rate of de novo mutations, father’s age, and disease risk

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