Genetic Testing of Y-Chromosome Microdeletion
Nicolás Garrido, Rocio Rivera in A Practical Guide to Sperm Analysis, 2017
Semen analysis is a useful tool in understanding male infertility and is used as an indication for genetic testing. The AUA practice guideline for infertility recommends that genetic testing be ordered in nonobstructive azoospermic or oligozoospermic (sperm count less than 5 million/mL) men.67 Despite the clinical usefulness of the semen analysis, it is not a direct measure of fertility.70 Patients with semen values below World Health Organization recommended ranges can conceive without the help of assisted reproductive technologies. On the other hand, men with semen variables within the same reference values may be infertile. The only true independent predictor of fertility potential from a semen sample is azoospermia. Other means to determine more precise male reproductive potential such as adjunctive blood or nonspermatic semen analysis are being explored; however, findings from these tests are not significant enough to impact clinical management.71–74 Despite these predictive limitations, semen analysis is still regarded as one of the most useful clinical tools in the diagnosis of infertility.
The Infertility Workup
Steven R. Bayer, Michael M. Alper, Alan S. Penzias in The Boston IVF Handbook of Infertility, 2017
Once the sperm sample is collected and analyzed, the provider can determine if further testing or treatment is required. Most authorities use the World Health Organization’s reference for defining the lower limits of the parameters of a normal semen analysis [46] (Table 3.1). These values have changed throughout the years and reflect the change in sperm parameters observed in men worldwide. This reference range includes values for overall ejaculate volume, sperm concentration, count, motility, and morphology. It is important to realize that the semen analysis is a quantitative assessment of the semen sample. Further, the normal ranges established for the various parameters are somewhat arbitrary and a previous study confirmed overlap between the semen parameters in a fertile and infertile population (Table 3.1).
Gynaecological Problems – Questions
Rekha Wuntakal, Madhavi Kalidindi, Tony Hollingworth in Get Through, 2014
For each clinical scenario below, choose the single most appropriate intervention from the above list of options. Each option may be used once, more than once or not at all. 7. A 28-year-old woman with a previous ectopic pregnancy and endometriosis has been trying to conceive for more than 18 months. Her GP has initiated the investigations for the couple and the hormonal profile, pelvic ultrasound and semen analysis were normal. You would like to establish the tubal patency.8. A 30-year-old nulliparous woman attends with her 40-year-old partner for a follow-up fertility clinic appointment. They were referred with a history of primary subfertility and all the baseline investigations were requested at the initial visit. Semen analysis results are as follows: semen volume, 3 ml; sperm concentration, 12 million/ml; total sperm number, 36 million; normal forms, >30%; normal motility, 60%; progressive motility, 40%.9. A 28-year-old woman with a BMI of 38 attends the fertility clinic with a history of primary subfertility. Her menstrual cycles were irregular once in every 35 to 60 days but she has had 35-day cycles during the last 3 months. You would like to establish the ovulation status of these cycles and ask her to do one of the above tests.
Current updates and future perspectives in the evaluation of azoospermia: A systematic review
Published in Arab Journal of Urology, 2021
Nahid Punjani, Caroline Kang, Dolores J. Lamb, Peter N. Schlegel
Semen analysis is one of the first laboratory diagnostic tests performed as part of an infertility evaluation. The AUA practice guidelines recommend two separate analyses of semen for the initial evaluation of an infertile man [15]. Although abnormal semen parameters do not necessarily indicate infertility, the complete absence of sperm in the ejaculate precludes a man from conceiving a child naturally. A diagnosis of azoospermia requires confirmation of a lack of sperm in the ejaculate following an analysis of the pellet from two separate centrifuged semen samples [12]. The WHO defined the normal ranges for semen parameters derived from analysing semen of a cohort of fertile men [16–18]. Critical components of a thorough semen analysis are shown in Table 1 [17].
The effect of micronutrient supplementation on spermatozoa DNA integrity in subfertile men and subsequent pregnancy rate
Published in Gynecological Endocrinology, 2021
Markus Lipovac, Verena Nairz, Judith Aschauer, Claus Riedl
Infertility is defined as failure to conceive after one year of regular and unprotected intercourse, and is defined as no pregnancy within six cycles. Up to 15% of couples suffer from primary or secondary infertility, a situation that may increase relationship break-up [1]. A 25–30% of subfertility/infertility cases are caused by male factors, which can be diagnosed through semen analysis [2]. Semen analysis provides an overview of its quality: motility, morphology, vitality, and sperm cell concentration. Causes of pathological semen analysis include hypogonadism, varicoceles, genital tract infections, or sperm cell autoantibodies. Despite this, in more than half of cases the underlying causes for a pathological semen analysis are unknown [3]. In fact, in nearly 15% of all couples with male factor subfertility/infertility, the standard semen analysis does not reveal abnormalities. Perhaps these cases are related to decreased sperm DNA integrity [4]. Current studies have shown that DNA integrity plays an important role during fertilization and early pregnancy. A direct correlation has been observed between decreased sperm DNA integrity and decreased pregnancy rates (natural and artificial) [5–8], and higher miscarriage rate [9]. DNA damage can be caused by intrinsic (i.e. pathological sperm cell maturation or oxidative stress) or extrinsic factors (i.e. varicoceles, infections, or advanced age) [10]. In 8% of males with decreased sperm DNA integrity, no abnormality can be found upon conventional sperm analysis [5].
The impact of varicocelectomy on sperm DNA fragmentation and pregnancy rate in subfertile men with normal semen parameters: A pilot study
Published in Arab Journal of Urology, 2021
Atef Fathi, Omar Mohamed, Osama Mahmoud, Gamal a Alsagheer, A.M. Reyad, Ahmed Abolyosr, Mohamed Sayed Abdel-Kader, Mohammed Saber-Khalaf
Semen analysis is an important infertility test for infertile couples. However, the 2010 WHO reference limits were defined according to the statistical fifth centile value for each semen parameter. Thus, it is important to understand that the WHO reference limits should not be used as a strict indicator for male fertility, and more complex tests should be used especially in patients with idiopathic infertility [3]. Sperm DNA fragmentation (SDF), which is the percentage of spermatozoa with denatured DNA, is an important parameter that might contribute to male subfertility [4]. SDF, which is measured by the percentage of DNA fragmentation (DNA fragmentation index [DFI]), is more common in subfertile men than fertile men [5]. Recent studies proved the effect of SDF and oxidative stress on varicoceles-related subfertility. Loss of DNA integrity leads to arrest of embryo development, implantation, and early pregnancy loss [6].