genetics and fertility

Understanding How Genetics Play a Major Part in Fertility & Reproduction

Understanding how genetics plays a major part in fertility and reproduction is very important. Many couples are completely unaware that their fertility issues and inability to conceive may in fact be from genetic, or hereditary issues that have not been screened for.

When it comes to fertility and being able to conceive more and more couples are now struggling. Some of this is due to increased stress levels, poor diet and lifestyle, increase alcohol consumption, lack of preconception care and many other factors. However, one key area that is not often talked about, or even known to many is genetic factors, chromosomal factors and DNA issues passed on through our sperm and eggs.

Fertility and reproduction is one of the hardest areas of medicine to understand. I am sure many people think that they understand it, but even with years of study and clinical experience, some questions just cannot be answered at this present time. No amount of “Dr Google” searching is going to bring answers for many couples and this is something that needs to be discussed more. Unless you have done years of study and clinical research into fertility and reproduction, you cannot understand the finer details and intricacies of conception. Even then, some answers are just not available to anyone at this present time.

The Reality of Fertility and Reproduction

The reality of fertility and reproduction is that just because an egg and sperm are put together, it does not mean that an embryo will be formed. Even if an embryo is formed, it does not mean that it will become a baby. Even if an embryo meets scientific grading categories (grade 1-4 etc), it still does not mean that the inner make up of that embryo is chromosomally viable. Even if the embryo is tested to be chromosomally viable (via PGD/PGS testing), it still does not mean that the embryo will go on to become a baby. This is the hardest thing for people to get their heads around and why we need to discuss this more. Quite simply, something that is supposed to seem easy really isn’t that easy at all. Reproduction and having babies is not as easy as many have led us to believe.

Chromosomal Errors

One of the biggest factors in embryos not developing, or IVF cycles failing, or even natural conception not working is chromosomal errors at the embryo stage. Even if both parents have normal karyoptype (46XX and 46XY) it does not mean that they cannot produce random chromosomal and genetic errors in their sperm and eggs. The thing is, the older we get, the more these errors occur and the harder it is to fall pregnant. An abnormal embryo with and abnormal number is cells is called aneuploidy. When an embryo has the correct number of cells it is called euploidy. Unfortunately, many couples are producing high numbers of aneuploidy embryos and this is why they are struggling to conceive. As mentioned before, just because the outer features of the embryo look fine, it does not mean the inner workings (chromosomes and DNA) are fine.

The Important of Genetic Screening

Speaking about chromosomal and genetics, when couples are struggling with fertility and being able to conceive, one of the biggest factors I see is that couples are not being screened properly. This is screening on all aspects, not just the standard blood tests and fertility investigations. Many couples that come to see me for help for fertility often believe that they have had everything done, yet most times I am finding that they have only had the basics done. Many couples have not even had basic genetic screening for karyoptype and genetic issues such as cystic fibrosis.

Understanding the Coding on DNA

Understanding the coding on the DNA is now having a profound practical impact on the practice of medicine today. This is particularly important in the area of infertility. There is increasing knowledge that there is frequently a major genetic component both from nuclear and mitochondrial DNA in couples with infertility or subfertility.

Significant examples include:

  • The demonstration of microdeletions on the Y chromosome in men with low sperm count (oligozoospermia)
  • The identifications of mutations in the Cystic Fibriosis gene in those with congenital bilateral absence of the vas deferens
  • The high rate of aneuploidy in normally dividing embryos after fertilisation in older infertile couples
  • The presence of an expanded triplet repeat in the androgen receptor in some men with low sperm counts.

Without seeing someone who has all this  knowledge of the molecular and genetic basis  of fertility many couples will continually have troubles trying to fall pregnant and may possible end up with repeated failed cycles in IVF too. There is so much to genetics and it is often overlooked in all areas of fertility these days. No amount of “Dr Google” is going to give you this information, nor will it give you understanding, unless you have a degree in reproductive medicine, or genetics. I do understand that people get desperate for answers, but unfortunately, sometimes these answers cannot be found by an internet search.

Other Genetic Factors Affecting Fertility

There are also other genetic conditions and chromosomal errors such as balanced translocations, reciprocal translocations, Robertsonian translocations, Turner’s syndrome, Kleinfelter’s syndrome, fragile X syndrome and many more. Again, many who are struggling with fertility issues and struggling to have a baby may not have even had some of these genetic screening done.

When I see couples, I also recommend advanced genetic carrier screening which tests for several hundred more genetically inherited mutations. Many fertility clinics do not recommend couples to do advanced carrier screening. Given that 1 in 22 couples are at risk of a hereditary gene mutation, it is really important to screen couples properly and not just do the basics.

Mutations in Genes

A mutation is a change in the information encoded in the DNA sequence. Such a change may result in the production of an abnormal protein, produce a truncated protein, reduce the levels of that protein, or cause it not to be made at all.

A single gene genetic disorder is one where an alteration in the DNA sequence of only one of the genomes 40,000 genes has resulted in significant pathology and disorders that affect the human body.

Such disorders include cystic fibrosis, Duchenne muscular dystrophy, Huntington disease and familial breast cancer. Although individually these disorders are rare, as a group, they are numerous and therefore important.

Cystic fibrosis, one of the most common autosomal recessive conditions affecting people of Northern European decent has a population incidence of 1 in 2,500.

To date up to 6,000 single gene disorders have been characterized and it is estimated that 14 per 1,000 people suffer from one of these conditions. A person who inherits a mutation in a single gene will carry that mutation in every cell of their body.

Mutations occur when a cell is dividing. The task of correctly copying 6 billion “bits” of information, the number of base pairs in the human genome, is huge and mistakes do occur. It has been established experimentally that these mistakes occur and are uncorrected in one in one billion base-pairs copied (or about 6 errors per cell division).

When a mutation occurs in the coding DNA sequence of a gene it may be a polymorphism with no effect or it may significantly impair the gene function. All mutations are thereafter inherited. Inherited or germ line mutations must be present in the egg or sperm. They are twice as common in sperm as eggs.

 Male Sperm Quality is a Big Part of Fertility Issues

Before everyone jumps to the conclusion that all failed cycles are related to women’s egg quality, I need to make it absolutely clear that men are half of the fertility equation. They are not exempt when conception does not take place, or an IVF cycle fails. As mentioned above many genetic mutations are twice more likely to be present in sperm than eggs. Up to 85% of miscarriage and chromosomally defective embryos are related to chromosomal errors that men have passed through their sperm.

Women’s eggs do have more errors as they get older, and eggs are not as viable as they get older, but men’s sperm are exactly the same. If men are not having their sperm quality managed while trying to fall pregnant, there is half your problem then and there. This is why all men are treated and managed on all levels of their health when doing my fertility program.

Sperm quality is variable and each time a man ejaculates the quality of that sperm can vary by as much as 20% at a given time. This is why men need to be continually looking after their health and sperm health while trying to conceive. Men are actually the bigger part of conception not taking place and we need to talk about this more. Men are not exempt when it comes to making babies.

Creating Life

Life does not begin with conception, but is simply a continuum from living cell to living cell with genetic information being transmitted through the genome from one generation to the next. A failure to achieve this is recognised as infertility.

At conception we are a single fertilized cell resulting from the fertilization of the egg by the sperm. The sperm contributes one copy of nuclear DNA, the egg the other copy and the mitochondrial DNA. That cell proceeds to divide, and over the course of 9 months (32 cell divisions) billions of cells are created, with specialized functions, forming complex tissues and organs that constitute the working human body. That first cell therefore must contain all the information necessary for embryological development, growth from fetus and then growth through to adult life. Without all the right coding and necessary information, life does not get created. This is also the answer to why so many couples are having problems trying to conceive.

The Importance of Seeing a Reproductive Medicine Expert

There are many factors to fertility and reproduction and why it is important that couples see someone who is a fertility expert. The fertility profession is largely unregulated and many who are now practicing in that profession are not experts at all. Many actually do not have further training and qualifications in reproductive medicine and are some of the reason why people are struggling to fall pregnant.

Final Word

Lastly, while we cannot change our chromosomes, or change genetic mutations, we can do things to change and improve our cellular DNA. This is why proper preconception care and preconception programs are so important. Everything we do, we ingest, we think etc, can be passed on to our future offspring via sperm and eggs. Health parents produce healthy sperm and eggs, thus producing healthy babies.

If you need help with being able to conceive, give my friendly staff a call and find out how my fertility program may be able to assist you. I use a ‘No Stone Left Unturned’ approach to assisting couples with fertility issues and will look at every aspect of a couples lives, including genetic and hereditary issues, to help them have the best chance of having a baby.

Regards

Andrew Orr

-No Stone Left Unturned

-Master of Reproductive Medicine

-The International Fertility Experts

Copy of Fertility Facts Being Overweight or underweight can adversely affect fertility

Being Overweight, or Underweight Can Adversely Affect Fertility

It is important to have healthy weight and waist size when trying to conceive. It is know that being underweight, or underweight can adversely affect fertility.

Healthy Waist Size

Healthy waist range for a woman is 80cm (from the belly button around) Healthy waist range for a man is 94cm (from the belly button around)

If a woman’s waist size is about 88cm and a man’s waist size if above 102cm then they are in what we call “metabolic syndrome”

Metabolic Syndrome

Metabolic syndrome increases their chances of the following:

  • diabetes
  • heart disease
  • depression
  • gynaecological conditions (PCOS, endometriosis etc)
  • sperm issues,
  • egg quality issues
  • reproductive issues,
  • increased miscarriage
  • increased risk of certain cancers
  • infertility

Excess body fat (now known as obestrogens) can disrupt hormones and fertility and can have a negative effect on egg and sperm quality.

Similarly being underweight and low body fat can affect fertility outcomes too.

Body fat has a regulatory role in reproduction

Body fat has a regulatory role in reproduction and a moderate loss of fat, from 10% to 15% below normal weight for height, may delay the menstrual cycle, completely stop the menses altogether and inhibit ovulation. Both dieting and excessive exercise can reduce body fat below the minimum amount and lead to infertility. But this is reversible with weight gain, increased body fat and reduction of intensive exercise, or both.

A moderate reduction in body fat, not just weight, for those overweight, can increase fertility and chances of pregnancy exponentially.

Similarly an increase in body fat for those that are underweight, and who don’t have enough body fat, can increase their fertility and chances of pregnancy as well.

This goes for men too. Increased body fat, or not enough body fat can affect hormone production and fertility and can affect sperm quality and sperm production.

The importance of preconception care

This is why preconception care and healthy screening and weight and waist management is so important before trying to conceive. This should also be a part of any fertility program and is definitely part of my fertility program for all couples.

Are you in healthy waist range?

Regards

Andrew Orr

– No Stone Left Unturned

-Master of Reproductive Medicine

-The International Fertility Experts

Chill Pill

A Special Kind of Pill for Better Health and Increased Fertility

Previously I have mentioned that I was going to talk to you all about a special medicine and a special kind of pill, that can not only help you with gynaecological and other healthy issues, but it can also help with fertility and being able to fall pregnant.

I was going to post this up straight away, but then I had to think more about it, because I know when you mention this subject, people can take a message with the intention of helping the wrong way.

So what is this special pill that I am talking about and not yet available on the market?

Well, it’s called a “Chill Pill” and many of us need to be taking it often, or learning to administer it often.

Now, before anyone gets all up in arms about this and what I am about to say, I need you to listen and take the personal out of this and just hear the reasons why.

I have been on the other end of stress, where it almost killed me, literally and I know how it then affected my health and then exacerbated pre-existing health complaints I had. So I am coming from a place of understanding, but also a place of wanting to help people through my own experienced personally, but also what I see in clinical practice daily. I was one of those people who kept saying that weren’t stressed, or that I don’t feel stressed, yet all the while my body signs were saying something different.

Like any change we need to make, the first part is admitting there may be something wrong in order to enact that change.

The sad fact is that 9 out of 10 people report being stressed and 41% of people feel they experience unhealthy levels of stress. Stress and the body’s response to it, can affect people in different ways. Small amounts of stress that are easily resolved can help to keep us motivated and achieve our goals.

The difference with long term or chronic stress is that it can affect the whole body in a negative way. It is the long grade, low grade stress (or busyness) that often creeps up on us and causes issues. Many people do not even know they are stressed, or that stress is a big factor in their current health issues, because they are either so used to it, or their health issues takes over and they cannot even begin to see the correlation.

The harsh reality of many problems in life is that we are ultimately responsible for our own well-being. Not all people will want to accept this, as it is so much easier to blame someone or something else for our dilemmas.

Nearly every problem we experience in life may have an element of stress to it bought on by ourselves and our busy lives, with many of us not consciously knowing it is at play. That means everything from a common cold to a long-standing illness. Everyone reading this will be by now squirming in his or her seats as the harsh reality of such a statement hits home. But the real problem with this is that it is true. I know I had to face this reality with my own health issues. We can and do cause many of our own health problems, or exacerbate them, either consciously, or subconsciously.

The problem with any health matter is getting people to become responsible for their own self. So much illness is completely preventable if we would just take responsibility for our own actions. It is so much easier to blame someone, or something else with comments such as “ I have tried everything”, “That didn’t work for me”, or “I’ve been everywhere and nothing can help me”.

The problem with many of these blanket statements is that they are all just excuses not to take responsibility for our actions. Maybe it isn’t that the methods you are trying aren’t working. Maybe it is simply a matter of nothing will ever work unless we make that all important change for ourselves first.

Sure, some disease states are hereditary, or someone have a predisposition for them, but even so, once the illness, or disease is expressed in the body, it is our responsibility to do what we can to control it.

Yes, sometimes it doesn’t seem fair, I get that, but sometimes you just have to admit there is an issue that isn’t going away in a hurry, or keeps being flared up, because you need to make some changes in your life to better manage this issue.

I know this is something I had to learn myself. Boy did I fight the reality of this in the beginning too. But, I also acknowledge that some people have seen some pretty shitty healthcare practitioners who have missed and dismissed their issues too. It all compounds and just makes everything seem so much worse. But, at the end of the day you can also find good practitioners who can help you too.

Stress is also a major factor in many couples not being able to conceive. Stress affects cortisol levels and the adrenals and this then has an effect on testicular and ovarian function.

Stress can affect both sperm and egg quality and high stress levels also affects our hormones and our immune system. Stress also has an effect on the uterine environment, which can affect implantation, affect circulation in the uterine lining, and also increase the risk of miscarriage. High stress levels also exacerbate, or fuel many gynaecological and men’s reproductive health issues too.

Looking for the ‘Off ’ Butt on

Stress can affect each of us differently. Perhaps you are suffering from anxiety, feeling worried, depressed or irritable; even feeling exhausted and overwhelmed can indicate you are under stress. As well as affecting your ability to cope, stress may also be causing a disruption to your health. When under stress for a length of time, you may be more susceptible to tension headaches, high blood pressure, frequent colds and flus, digestive disorders or a worsening of an existing condition.

So you can see, there are many reasons why it is so important to manage your stress now, take that “Chill Pill” before it starts impacting your health and wellbeing.

How Resilience Begins

Some people seem to deal with stress better than others. That doesn’t mean that the rest of us need to continue suffering. The ability to increase your resilience to stress is something that can be learned and helped with talking to a counsellor, or psychologist etc.

There are supplements, nutrients, and vitamins to support your body’s individual stress response system too. Many people are lacking key nutrients because of our highly processed diets now and we also know that gut health, and a healthy microbiome is integral to psychological wellbeing and our moods.

Taking a strain specific probiotic and a prebiotic daily can improve gut health and improve your immune system and psychological wellbeing. Omega 3 oils, multivitamins, melatonin, St John’s wort, passion flower, chamomile and many other herbs and nutrients can assist with coping with stress and its impact on the body.

Don’t buy vitamins or supplements off the shelf at the chemist or supermarket as these are so inferior and contain lots of fillers and additives that aren’t good for you. Always see a qualified healthcare practitioner to get proper advice on what nutrients and supplements are needed for your health complaint.

By the way, Dr Google is banned in my clinic. Dr Google is not a reliable way to find out about healthcare products and illnesses. Only a trained healthcare professional should be giving you that advice. But, in saying that, researching where to find a good practitioner is great and also developing and understanding of ones health issues is great too, as long as it doesn’t become an obsession and that is all you focus on. It is about a balance. There is nothing wrong with trying to be informed. But, trying to self diagnose, or self prescribe is not a good thing at all.

Some people may be in such a bad state that medication may be needed to get them over their first hurdles and develop some resilience and coping skills. This should always be done in conjunction with talk therapy as well. To be honest, most of us could do with talking to a good counsellor or psychologist to get some coping strategies to deal with work, business, health, or life better.

Lifestyle Tips to Help Manage Stress

Managing your stress is essential for long-term health and vitality. With proper support, a variety of stress relief techniques can be introduced, in conjunction with a

healthy eating plan to help assist you in stressing less. These may include:

  1. Exercise: Daily movement is essential for brain health. Aerobic exercise including running, swimming or walking is proven to decrease stress hormones. Resistance exercise is also great for stress relief, burning fats, increasing lean muscle and keeping you healthy.
  2. Enjoy the benefits of spending some time in the sun. Being in nature for 30 minutes per day can help reduce stress hormones and assist recovery after a stressful situation.
  3. Meditation and/or yoga can help to increase relaxation whilst benefiting not just the mind, but also the body. Learning to unwind is important for reducing stress.
  4. Favourite pastime: create time for YOU! Do something that you love, like listening to music, enjoying a candle lit bath, watching a movie, or starting a creative project – these fun activities can help you become more tolerant of everyday stress.
  5. Get creative and express yourself in as many different ways as feels good; singing, dancing, and art projects are but a few ways to do this.
  6. Eat seasonally, fresh and organic as much as possible. Include protein at every meal with a variety of fruit and vegetables.
  7. Include good fats such as omega 3s from fish, nuts and seeds, and olive oil to help with brain health and mood regulation.
  8. Drink plenty of water, a minimum of eight glasses per day and avoid excessive alcohol, caffeine, sugar and salt.
  9. See a counsellor, or psychologist to get some coping strategies in place.
  10. Acupuncture has been shown to be as effective as medications for stress and equal to the effects of talk therapy in several major studies.

Stress Less for Good Health

Our modern lifestyle is inescapable. The stress of it however, is manageable. This is why I mentioned the magic “Chill Pill”. All people have to do is take the advice and administer it often.

You aren’t born stressed and being stress isn’t a part of you. It is a learnt behaviour that can be changed. You can become more resilient to the symptoms and long term effects of stress through the aid of individualised lifestyle and dietary changes, together with nutrients, supplement and in some cases medicines that your healthcare providers can help you with.

Talk therapy such as counselling and psychology is an integral part of leaning to cope with stress and dealing with it better too. Mindfulness and meditation can also assist with stress.

Supporting a healthy stress response will allow you to feel more energised, resilient and ready to tackle life, so you can maintain the state of health and wellness that you deserve.

I hope that helps everyone and please remember to take off those superwoman/superman capes regularly, allow space to just breath and shut off the mind and just have some you time. It is OK to just sit there and not feel guilty about it. People need to learn to switch off the “busyness” and close down the 100 boxes they have open. It is Ok just to sit in peace and quietness and not feel guilty about it. Actually, your body needs to do this to maintain your inner health, but also your psychological health.

Every persons health, or disease state is different and while stress may not be the cause of ones particular issue, it can certainly exacerbate it. This is why it is so important to look at every aspect of ones life, not just a small isolated portion of it.

When was the last time you allowed yourself the space to just be, just take some quite time and let the world pass by for a little while without worrying about it?

Take care and relax and don’t work too hard. We work to live, not live to work.

Regards

Andrew Orr

-No Stone Left Unturned

-Women’s and Men’s Health Advocate

weight loss 2036966 1920

Being Overweight, or Underweight, Can Adversely Affect Fertility

As mentioned in previous posts about fertility and weight, it is important to have healthy weight and waist size when trying to conceive. It is important to address dietary and lifestyle issues in order to be in health weight and waist range before trying to conceive.

Healthy Waist Size

Healthy waist range for a woman is 80cm (from the belly button around)

Healthy waist range for a man is 94cm (from the belly button around)

If a woman’s waist size is about 88cm and a man’s waist size if above 102cm then they are in what we call “metabolic syndrome”

This increases their chances of diabetes, heart disease, depression, gynaecological conditions (PCOS, endometriosis etc), sperm issues, egg quality issues, reproductive issues, increased miscarriage, increased risk of certain cancers and of course…. infertility.

Body fat and how it affects fertility

Excess body fat (now known as obestrogens) can disrupt hormones and fertility and can have a negative effect on egg and sperm quality.

Similarly being underweight and low body fat can affect fertility outcomes too. Body fat has a regulatory role in reproduction and a moderate loss of fat, from 10% to 15% below normal weight for height, may delay the menstrual cycle, completely stop the menses altogether and inhibit ovulation. Both dieting and excessive exercise can reduce body fat below the minimum amount and lead to infertility. But this is reversible with weight gain, increased body fat and reduction of intensive exercise, or both.

A moderate reduction in body fat, not just weight, for those overweight, can increase fertility and chances of pregnancy exponentially. Similarly an increase in body fat for those that are underweight, and who don’t have enough body fat, can increase their fertility and chances of pregnancy as well.

This goes for men too. Increased body fat, or not enough body fat can affect hormone production and fertility and can affect sperm quality and sperm production.

This is why preconception care and healthy screening and weight and waist management is so important before trying to conceive. This should also be a part of any fertility program and is definitely part of my fertility program for all couples.

Are you in healthy waist range?

Regards

Dr Andrew Orr

-No Stone Left Unturned

-Master of Reproductive Medicine and Women’s Health Medicine

-Women’s and Men’s Health Advocate

01 Dr Andrew Orr 1