Facing fertility challenges can be a daunting journey, but a well-structured approach to fertility investigations can provide clarity and pave the way for effective treatments. In this blog post, I will take a deep dive into the essential tests that should mark the beginning of your fertility investigations, differentiating between male and female evaluations. I'll also explore advanced tests in greater detail, highlighting why each test is valuable in understanding and addressing fertility concerns.
FOUNDATIONAL / ESSENTIAL TESTS
For BOTH
Sexually transmitted infections (STI) check because, if present, these can impact fertility in a number of ways, including blocked fallopian tubes.
For Men / sperm providers
1. Semen Analysis: The Vital Snapshot of Sperm Health
- Why: Semen analysis is a foundational test that assesses crucial sperm parameters, including sperm count, motility, morphology, and volume. It provides essential information about the overall health of sperm, their ability to swim and fertilize an egg, and the quantity produced during ejaculation. One thing most people are not aware of is that it is recommended to have at least TWO semen analyses carried out at least 3 months apart, due to the effect that varied lifestyle factors can have on the quality of a sample.
2. Physical Examination: Uncovering Anatomical Abnormalities
- Why: If the semen analysis shows up a very low sperm count, or even absent sperm, a thorough physical examination is recommended. This can reveal anatomical issues such as blockages or a varicocele (enlarged veins in the testicles), which may impair sperm production and quality. Addressing these structural problems can significantly improve fertility.
3. Hormone Profile: Balancing Male Hormones
- Why: Again, if the semen analysis came back with a really low concentration of sperm, it is advised to investigate hormones like testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH), sex hormone binding globulin (SHBG), and prolactin as they can play pivotal roles in male fertility. An imbalanced hormonal profile can affect sperm production and quality, making this test essential for diagnosing and addressing hormonal issues.
4. Karyotype: Checking chromosomal arrangement
- Why: If someone is not producing sperm, it may be due to a genetic factor such as an extra Y chromosome, amongst other reasons. By carrying out a karyotype, it is possible to check that the correct number and size of chromosomes are present.
For Women / Egg providers / Embryo recipients
1. Hormone Panel: The Hormonal Symphony
- Why: Hormone levels, including estradiol, testosterone, progesterone, LH, FSH, SHBG, and prolactin, play pivotal roles in regulating the menstrual cycle and ensuring proper egg development and release. An imbalance in these hormones can disrupt fertility. With the exception of progesterone which should be checked around 7 days post ovulation, all other markers should be analysed between days 2-5 of the menstrual cycle (ideally Day 3). This is often called a 'Baseline assessment'.
2. Transvaginal Ultrasound: Visualizing the Reproductive Organs
- Why: This ultrasound provides insights into the condition of the ovaries and uterus, helping identify structural abnormalities, ovarian cysts, or polyps that may hinder conception. You may have an antral follicle count (AFC) carried out to inform you of the number of follicles that are seen on your ovaries. This may be used, along with some hormonal markers, to gain an idea of your ovarian reserve. It may also be used to assess endometrial thickness.
3. Hysterosalpingogram (HSG): Checking Tubal Patency and Uterine Health
- Why: HSG is crucial for assessing the fallopian tubes' patency and the health of the uterine cavity. Blockages or abnormalities in these areas can hinder the journey of the egg and sperm meeting for fertilization. You may also be advised to have a HyCoSy or a laparoscopy / hysteroscopy if further investigations are warranted. This decision would be made based on your clinical history and the facilities available at the clinic.
FURTHER INVESTIGATIONS (I still deem some of these as essential!)
For Men / sperm providers
1. Sperm DNA Fragmentation Test: Assessing Genetic Integrity
- Why: A routine semen analysis can tell you about how the sperm look, however, it can't tell you anything about what the DNA of the sperm is like. 'Normal' looking sperm may have broken and fragmented DNA inside that could contribute to poor embryo development and increased risks of miscarriage. This advanced test evaluates the integrity of sperm DNA. High DNA fragmentation levels can negatively impact fertilization and embryo development, contributing to infertility or recurrent pregnancy loss.
2. Semen / Urine Culture: Detecting Infections and Sperm Quality
- Why: Semen culture helps identify infections in the reproductive system that can compromise sperm quality and overall fertility. If one partner harbours an infection then it is very likely that the other partner does as well, if they are being intimate. Infections within the male reproductive tract may increase chances of poor sperm morphology, and potentially increase inflammation that may negatively impact on sperm DNA integrity. They are sometimes seen alongside a varicocele presentation.
3. Functional / Further blood tests: Exploring further
- Why: There are a number of other areas that may negatively impact the male reproductive system, including hormonal balance and nutrient availability. Dependant on clinical history and the individual's presentation, further testing may be recommended to investigate for any imbalances. Gut health can indirectly influence fertility through its impact on overall health, reduced nutrient absorption, and potentially increased inflammation levels if gut health is poor. Assessing the gut microbiome can provide valuable insights into potential contributing factors. If there was a significant exposure to toxins within the workplace / environment, this may be area to delve further in, due to the effect that toxins can have on many metabolic, and developmental processes.
For Women / Egg providers / Embryo recipients
1. Comprehensive Thyroid Testing: Uncovering Thyroid Disorders
- Why: Thyroid disorders, especially hypothyroidism, may go unnoticed for many years, yet can disrupt menstrual cycles and ovulation. Comprehensive thyroid testing, including fT3, fT4, and thyroid antibodies, is essential for diagnosing and managing these issues. It is frequently seen that GPs may measure TSH and T4, but they rarely take a full picture, and it is actually fT3 that is the predominant active thyroid hormone carrying out the work (yet it goes unchecked!).
2. Vaginal Microbiome Analysis: Balancing Vaginal Bacteria
- Why: The vaginal microbiome plays a vital role in reproductive health. Imbalances are very frequently seen, and can lead to conditions like bacterial vaginosis, and thrush, potentially impacting fertility and pregnancy outcomes. Often these may go unnoticed as not everyone has symptoms. If you've experienced an early miscarriage, or repeated implantation failures despite good quality embryos, this is something to definitely be checking. To be honest - I ask ALL of my clients to investigate this, because who would want to replace an embryo, or try to get pregnant, if you are unsure if the environment is not optimum for conception??
3. Coeliac Disease Screening: Addressing Autoimmune Factors
- Why: Untreated coeliac disease can lead to nutrient deficiencies and inflammation, potentially affecting fertility. Screening is crucial if there are suspicions of gluten intolerance, however, not everyone with coeliac disease presents with digestive symptoms.
4. HbA1c Test: Monitoring Blood Sugar Levels
- Why: Elevated HbA1c levels can indicate insulin resistance, which may contribute to infertility. Early detection and management are key to optimizing fertility. If blood sugar levels are imbalanced, this may lead to inflammation which has negative impacts on egg quality, menstrual regularity, and health.
5. Genetic Investigations for Methylation: Unraveling Miscarriage Causes
- Why: Methylation is a process that happens within the body and it is crucial for DNA synthesis and cellular growth, amongst many other functions. Around 50% of the population are not very efficient at carrying out the methylation pathway due to common genetic variations (for example, the MTHFR gene). In cases of recurrent miscarriages, investigating methylation-related genetic variants can provide insights into potential genetic factors contributing to pregnancy loss.
6. DUTCH Test for Hormonal Imbalances: A Deeper Hormonal Insight
- Why: The DUTCH test provides a comprehensive view of hormone metabolites throughout the day, aiding in diagnosing hormonal imbalances that may affect fertility. Taking a more in depth look at the levels of oestrogen, progesterone, and other hormones, and how they are metabolised, may shed light on how best to support and balance them.
7. Nutrient Sufficiency Assessment: Nourishing Fertility
- Why: Ensuring sufficient nutrients like folate, iron, and vitamin D is crucial for a healthy pregnancy. Nutrient deficiencies can impact fertility and pregnancy outcomes and it is important to ensure someone is replete prior to becoming pregnant. For example, vitamin D plays roles in follicular development, implantation and placental function.
This is not an exhaustive list; dependant on an individual's situation, there may be other areas that need investigating.
It is a very personalised process.
A thorough understanding of fertility investigations, from essential tests to advanced evaluations, empowers individuals and couples to navigate their fertility journey with confidence. Each test serves a unique purpose, allowing healthcare professionals to diagnose specific issues and tailor treatments effectively. By addressing the root causes of fertility challenges, you can increase your chances of achieving your dream of starting or expanding your family.
If you would like to discuss your situation, or any of the tests mentioned above, please reach out to me at sarah@theembryologistnutritionist.co.uk, or contact me through my Instagram channel. You can also book in for a free Fertility Review where we can discuss all of this as well.
Sarah
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