Genetic screening in couples experiencing recurrent assisted procreation failure (original) (raw)
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The Infertile Male Patient with a Genetic Cause
Challenges and Management Options, 2012
Case History: A couple was referred to an assisted reproduction techniques (ART) clinic with a 7-year history of primary male factor infertility. The 31-year-old male partner had two abnormal semen analyses (SA) at an accredited laboratory before referral. His sperm concentration was 1.5 million/mL, with 5% total motility and 1% normal forms (strict criteria) on both occasions. A repeat SA at the ART clinic confirmed the previous findings. The female partner's workup was normal. Their provider suggested intracytoplasmic sperm injection (ICSI) as an option to achieve fertility, but before consenting to the procedure, the couple wanted to know the possibility of their male offspring inheriting the infertility phenotype. They were particularly concerned because the man's two brothers also had abnormal SA and infertility.
2015
Infertility in 20 % of involuntary childless couples is attributable to purely male factors. In about 30% of such males the underlying cause is genetic. Male infertility problems tend to aggregate in the families and a decline of ~ 50 % in the sperm concentration has occurred in the past 50 years. The mutations and microdeletions in the MSY region, especially those involving AZF, can cause oligospermia or azoospermia. The use of various assisted reproductive techniques by infertile men with microdeletions would significantly increase the incidence of male infertility.
A treatment algorithm for couples with unexplained infertility based on sperm chromatin assessment
Journal of Assisted Reproduction and Genetics, 2018
Objective To design a reproductive treatment algorithm based on the sperm DNA fragmentation (SDF) for couples with unexplained infertility following a poor intrauterine insemination (IUI) outcome. Design Couples that failed IUI with no apparent reproductive issue in both partners were allocated to diverse reproductive treatments on the basis of SDF. Setting Reproductive medical center in an academic setting. Patient(s) Over 4 years, couples with an unexpected poor IUI outcome and no apparent female or male partner reproductive issues were recruited. Intervention(s) IUI, IVF, and ICSI were performed in the standard fashion following sperm SDF assays. Main outcomes measure(s) Fertilization rate, implantation rate, pregnancy characteristics, and delivery rates. Result(s) A total of 354 couples with unexplained infertility and normal semen parameters underwent 1133 IUI cycles. Clinical pregnancy rate (CPR) with IUI at our center in an age-matched cohort is 23.9% while the study cohort had 1.8%. Following SDF assessment, couples with failed IUI attempts but normal SDF (SCSA 9.8 ± 4.6%; TUNEL 11.8 ± 6.2%) underwent IVF with a CPR of 12.7%; those with abnormal SDF underwent ICSI with ejaculated spermatozoa, resulting in a CPR of 18.7%. This group included couples with normal SDF that had failed IVF. Couples with abnormal SDF that failed ICSI with ejaculated spermatozoa achieved a CPR of 31.0% with surgically retrieved spermatozoa. Conclusion(s) Couples with unexplained infertility that present with unexpectedly poor IUI outcomes can be funneled into a treatment algorithm guided by the integrity of the sperm genome for higher chances of pregnancy using an alternate method of insemination.
Infertility: Practical Clinical Issues for Routine Investigation of the Male Partner
Journal of Clinical Medicine, 2020
About one-fifth of couples has fertility problems in Western countries. Male factors are present in about half of them, either alone or in combination with female causes. Therefore, both partners should be evaluated simultaneously. The fertility status and/or specific conditions of each partner influence the clinical and treatment approach. This article summarizes in a practical way when, how, and why the male partner of an infertile couple should be investigated. The available evidence and international guidelines were used, interpreting, discussing, and expanding them from personal decades-long experience in this field. The aim is to delineate the most appropriate clinical approach for the male partner of infertile couples, considering traditional and emerging technologies and laboratory analyses in the context of their clinical significance. Components of the initial evaluation in men without known risk factors for infertility should include at minimum medical history, physical examination, and semen analysis. Semen microbiological examination, endocrine assessment, scrotal ultrasound, and transrectal ultrasound are suggested in most men and are mandatory when specific risk factors for male infertility are known to be present or when the initial screening demonstrated abnormalities. Full examination, including genetic tests, testicular histology, or additional tests on sperm, is clinically oriented and/or suggested after the results of initial investigations.
Endokrynologia Polska, 2020
Male infertility is the cause of couples' infertility in about 50% of cases. Current recommendations on the diagnosis and treatment of male infertility advance thorough medical history taking and physical examination, to provide the basis for further genetic evaluation. The extent of genetic testing itself depends on the semen analysis results, which allow the risk of inheritance of chromosomal aberrations to be determined and the root causes of habitual miscarriages to be explained. In azoospermia, once the type of microdeletion has been identified, a decision can be made as to whether a testicular biopsy is required to obtain sperm for the artificial reproductive technology (ART) procedure. The physical examination, genetic interview, and hormonal results are helpful in deciding which genetic tests to perform. Our research facilitates genetic testing in the diagnosis of male infertility.
An update on the management of male infertility
The Obstetrician & Gynaecologist, 2020
Key content Male infertility underlies or contributes to up to 50% of infertility cases; current therapeutic interventions rely on assisted reproductive technology (ART), as medical or surgical treatments have limited value in enhancing semen quality or parameters. Lifestyle factors that affect male fertility could offer a therapeutic opportunity; however, their modification seems to be of variable benefit. In the quest for sperm functional assessment and selection tests, there is controversy over which patients, if any, should be tested for sperm DNA fragmentation, as well as which test to perform. Sperm selection techniques for intracytoplasmic sperm injection do not appear to significantly improve treatment outcomes or live birth rates. Routinely performed genetic tests are effective in determining aetiology in approximately 20% of infertile men; however, newer genetic tests could enhance diagnosis and change the future management of male infertility. Learning objectives To summa...
Contemporary genetics-based diagnostics of male infertility
Expert Review of Molecular Diagnostics, 2019
Introduction Thousands of genes are implicated in spermatogenesis, testicular development and endocrine regulation of testicular function. The genetic contribution to male infertility is therefore considerable, and basic and clinical research in last years found a number of genes that could potentially be used in clinical practice. Research has also been pushed by new technologies for genetic analysis. However, genetic analyses currently recommended in standard clinical practice are still relatively few. Areas covered We review the genetic causes of male infertility, distinguishing those already approved for routine clinical application from those that are still not supported by adequate clinical studies or those responsible for very rare cause of male infertility. Genetic causes of male infertility vary from chromosomal abnormalities to copy number variations (CNVs), to single-gene mutations. Expert opinion Clinically, the most important aspect is related to the correct identification of subjects to be tested and the right application of genetic tests based on clear clinical data. A correct application of available genetic tests in the different forms of male infertility allows receiving a better and defined diagnosis, has important role in clinical decision (treatment, prognosis), and allows appropriate genetic counselling especially in cases that should undergo assisted reproduction techniques.