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Preventing Familial Cancer With Preimplantation Genetic Diagnosis

Emily Mounts, MS, CGC, genetic counselor and Director of Genomic Services at Oregon Reproductive Medicine, leads the largest clinical genomics program of any US IVF clinic and helps explain how IVF with preimplantation genetic diagnosis can help reduce the chance of passing on a known genetic cancer risk.

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Preventing Familial Cancer With Preimplantation Genetic Diagnosis

Emily Mounts, MS, CGC, genetic counselor and Director of Genomic Services at Oregon Reproductive Medicine, leads the largest clinical genomics program of any US IVF clinic and helps explain how IVF with preimplantation genetic diagnosis can help reduce the chance of passing on a known genetic cancer risk.

Genetic technologies are rapidly reshaping many areas of medical practice, but perhaps no field has been more widely impacted by these advances than cancer. Dramatic improvements in diagnosis and monitoring of cancer have been facilitated by the genomic revolution, and treatments now in development hold immense promise.

Meanwhile, advances in DNA testing are allowing more patients with a personal or family history of cancer to identify whether they have a hereditary form of cancer and, importantly, to understand the risk for their offspring to be similarly affected. Yet patients and clinicians alike are frequently unaware of one of the most powerful tools to prevent cancer from persisting in families: preimplantation genetic diagnosis (PGD) with in vitro fertilization (IVF).

While most patients accessing fertility treatments such as IVF are doing so for assistance in becoming pregnant, preventing the transmission of cancer to future generations of a family is another compelling application of IVF.

What is Preimplantation Genetic Diagnosis?
PGD is a reproductive process that allows potential parents to avoid passing certain hereditary disorders to their offspring. Patients undergo in vitro fertilization (IVF), a process in which eggs are retrieved from a woman’s ovaries and fertilized with sperm in the lab. The resulting embryos develop in a sterile and womb-like environment in the laboratory for five to six days, after which a handful of cells are safely removed from each embryo.

The cells undergo genetic testing that has been customized to accurately detect the family’s particular mutation(s). An embryo identified as not having inherited the genetic condition is transferred into a woman’s uterus in the hopes of achieving pregnancy. Any resulting children are at very low risk of having inherited the familial gene mutation(s).

In experienced hands, PGD is usually straightforward and low-risk. Current expert consensus is that there are few risks to the embryo, the resulting fetus/baby, or the mother. While rare misdiagnoses have been reported and patients should understand this possibility, the overall accuracy of PGD is high and the vast majority of patients will have children who are free of the tested condition.

What is a hereditary cancer syndrome?
Most cancer is sporadic, meaning that it happens by chance. About 10% of cancers are related to hereditary cancer syndromes. Individuals with a hereditary cancer syndrome have an inherited predisposition to develop certain types of cancer. The risk of developing cancer in these individuals is significantly higher than in the general population.

Hereditary cancer syndromes are caused by harmful variants, or mutations, in genes that usually prevent cancer. These genetic variants are typically inherited in a dominant pattern. This means that first-degree relatives (parents, siblings, and children) of an affected individual each have a 50% chance to also have the genetic variant and cancer predisposition.

Features that suggest that a family has a hereditary cancer syndrome include having multiple relatives with the same or related type of cancer, multiple affected generations, young ages of diagnosis, or an individual with multiple primary cancers. Individuals with hereditary cancer syndromes are typically at a high risk (50%) of passing on the condition, and often have a strong desire to preclude their children from living under the threat of cancer.

Does my family have a hereditary cancer syndrome?
Genetic counseling and testing is available for families with features suggestive of hereditary cancer syndromes. In some cases, testing for hereditary cancer genes may be offered in lower risk cases without the typical “red flags” that indicate that such a gene may be present.

For those wondering whether they have a hereditary cancer syndrome, genetic testing is typically done through either a blood test or a saliva test. If this testing identifies a genetic variant that is linked to the specific cancer in the family, other family members may choose to be tested to determine whether they also have an increased risk to develop cancer. There are pros and cons to genetic testing, which are best discussed with a genetic counselor or physician in the context of one’s medical and family history and family planning wishes.

Patients who are recognized to carry a heritable form of cancer based on DNA testing most often have a 50% chance of having a child who inherits their mutation. Knowing that their child could experience the same medical challenges other family members with cancer have endured, such patients, when in their 20-40s, are increasingly choosing to invest in IVF with PGD to avoid transmission of the condition to the next generation.

Patients who have family histories suggestive of a cancer syndrome should consider having cancer genetic counseling prior to conceiving or beginning a fertility treatment process in case they should wish to consider PGD.

For which conditions can PGD be performed?
PGD can be performed for hundreds of conditions – including hereditary cancer syndromes – for which there is an identified, serious, disease-causing mutation.

Examples of hereditary cancer syndromes for which PGD has been performed:

Hereditary Breast and Ovarian Cancer (BRCA1 and 2)
Lynch syndrome (Hereditary Non-Polyposis Colon Cancer)
Familial Adenomatous Polyposis
Hereditary Diffuse Gastric Cancer
Li-Fraumeni syndrome
Multiple Endocrine Neoplasia
Von-Hippel Lindau
Retinoblastoma

Growth of PGD
From the inception of PGD in 1989 until recently, PGD was primarily used for rare congenital genetic disorders. This led to a widespread belief that PGD is an obscure, seldom-used, even boutique treatment option.

But the increasing use of DNA testing in many medical specialties is creating a new, broader segment of PGD candidates. This includes individuals with hereditary cancer syndromes and other adult-onset conditions, who are increasingly aware of the risk of disease transmission to their children and are accessing the technology.

Recent improvements in embryo biopsy and vitrification (freezing), IVF success rates, and PGD accuracy are all contributing to wider acceptability of and use of PGD.

Why do people choose PGD?
For people with heritable cancer gene mutations, undergoing IVF with PGD can dramatically increase the chance for their children to be cancer-free. PGD therefore offers hope to individuals or couples who are concerned about how a certain cancer gene could impact the quality of life of their offspring.

Patients with hereditary cancer syndromes often shoulder a large emotional burden as they cope not only with their own medical challenges, but also with the fear that they could transmit their disorder to their children. Some couples remain childless because of this fear and/or due to the anxiety of invasive prenatal diagnosis, after which the only fully preventative option is pregnancy termination.

Some families have already been significantly impacted by a cancer gene in multiple family members and may be motivated to stop the gene from being further transmitted through the family. PGD can provide peace of mind during pregnancy and after birth, and can lead to better long-term outcomes for the family and their children.

Those who choose PGD report that they did so to avoid being in the stressful and emotional position of not knowing whether their child inherited their cancer gene mutation. PGD has been shown to “rekindle optimism” and provide a sense of control and hope, and is psychologically and ethically preferred by future parents. Moreover, cost–benefit analysis demonstrates that IVF with PGD may be the most economical way for couples at risk of transmitting certain genetic disorders to build their families.

What are the barriers to PGD?
Although access to genetic counseling and testing for hereditary cancer has grown exponentially, many patients of reproductive age are still not advised of the availability of PGD – one of the most effective tools for genetic disease prevention – by their providers.

Potential PGD patients are therefore frequently unaware of PGD, which is unfortunate because the vast majority of patients believe that information about PGD should be routinely provided along with their cancer genetic test results, and a significant proportion indicate that they would be interested in using PGD to create their families. Others are aware of PGD but are confused by misinformation, reporting fears of potential damage to embryos and concerns regarding test reliability, the IVF procedure, and success rates.

Although most of these concerns could be largely alleviated by healthcare providers, clinicians outside the fertility clinic cite having insufficient knowledge to educate patients, and in many cases do not feel comfortable offering, interpreting, or counseling on genetic testing. This is problematic considering that some patients express a preference to discuss PGD with a physician with whom they have an ongoing relationship, such as their oncologist or obstetrician.

Until the wider medical community is better educated regarding the facts about PGD, patients may need to be their own advocates and identify experienced specialists who can answer their PGD questions.

The Future of PGD for Cancer
Many factors will ultimately influence the reproductive plan for those with hereditary cancer syndromes: the specific cancer gene; treatment options and life expectancy; religious background; insurance coverage and finances; and acceptability of the alternatives.

As genomic advances continue to reform medical practice, patients with hereditary cancer syndrome will increasingly be able to access PGD and begin the journey to parenthood with optimism and hope.
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Learn More
Oregon Reproductive Medicine (ORM) has the largest clinical genomics program of any US IVF clinic with four full-time, in-house board-certified genetic counselors. The integration of the latest advances in genomic care is a distinguishing feature of every IVF cycle at ORM. ORM offers complementary PGD case review with a genetic counselor to patients who are considering PGD.

Emily Mounts, MS, CGC, board-certified genetic counselor and Director of Genomic Services at ORM, and Dr. Elizabeth Barbieri, board-certified specialist in reproductive endocrinology and infertility, will host two free webinars dedicated to explaining how IVF with PGD can benefit those that have a chance of passing on a hereditary cancer syndrome to their children.

To register for this free webinar and for more information visit the ORM and ORM Genomics websites oregonreproductivemedicine.com and ormgenomics.com.

Click here for loads more information about Preimplantation Genetic Diagnosis information.

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Fertility 360

NEWS: Get access to adult photos of the Cryos sperm donors

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Adult Cryos Sperm Donors Photos

Viewing adult photos of Cryos sperm donors is now a reality. Visit dk.cryosinternational.com today and get access to the new feature.

At Cryos it is now possible to access adult photos of sperm donors on our website, thus adding another dimension to your search for the perfect donor.

The unique chance to see both childhood and adult photos of your sperm donor, provides you with a more comprehensive idea of who your sperm donor is and moreover of the features of your future child. We hope that this extra dimension will upgrade your experience making your decision of a sperm donor easier.

The 5-6 adult photos are taken by a professional photographer and are a part of the donors extended profile where you also have access to childhood photos, an audio recording of the donor’s voice, a handwritten message, an emotional intelligence profile, and finally our staff impressions of the donor, amongst other exclusive features.

The adult photos require special access on our website. Visit our website and find out more and get access to this new feature now.

Please note that the person in the photos is a model and not a Cryos donor.
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Fertility And Sex: Why Her Orgasm Matters

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Why her orgasm matters

For many couples, trying to conceive can make sex feel less fun and more pressured. Instead of being an intimate and enjoyable experience, baby-making sex can start to seem like a finely choreographed routine. Often, the female orgasm is one of the first things to go, but the maleorgasm is not the only orgasm that matters when it comes to fertility.

Before I dive into discussing the potential benefits of the female orgasm for fertility, it’s important to note that reaching climax is not technically essential for conception. If you never, or rarely, achieve orgasm, don’t worry, you can still get pregnant! Around 1 in 10 women don’t experience orgasm, ever. What’s more, the exact nature of the female orgasm remains somewhat elusive. Some experience orgasm through clitoral stimulation, some through vaginal intercourse, some through both, and others through something else entirely, or not at all.

Even without reaching orgasm, sexual arousal is itself beneficial to fertility. Like an orgasm, arousal is, first and foremost, a good indication that sex is enjoyable. Sexual arousal and climax causes significant changes in your levels of neurotransmitters including noradrenaline, oxytocin, prolactin, dopamine, and serotonin. These ‘reward’ neurohormones help you bond to a sexual partner and make it more likely that you’ll have sex more often, thereby increasing your chances of conception.

Second, orgasm and arousal have a range of physiological effects that might aid conception, which I’ll discuss in a moment. And, third, sexual arousal and orgasms for everyone can help sperm-producing partners avoid feeling like they’re being used just for their sperm. In fact, some studies show that male partners who engage in cunnilingus prior to vaginal intercourse have greater sexual arousal and produce more semen!

HOW ORGASMS ENHANCE FERTILITY

The female orgasm can help relieve stress, and promote healthy circulation and balance in the body. Stress is a key cause of diminished libido and may also reduce the chances of conception by raising levels of the stress hormone cortisol. Conversely, good sex can help raise levels of oxytocin and the other neurohormones mentioned above. These help you to relax and bond to your partner.

Published in 1967, the author even went as far as suggesting that the increase in these hormones after orgasm help support conception by temporarily incapacitating you. Put simply, this ‘poleax’ effect means you’ll feel so relaxed that you’ll stay lying down, which may increase your chance of conceiving. Whether staying supine does make conception more likely is still under debate, but I’m all for promoting relaxation, so if this theory provides added motivation, go for it!

CERVICAL TENTING

There is some suggestion that orgasm affects the shape and function of the cervix. These effects, which may include cervical ‘tenting could enhance the likelihood of conception by promoting the movement of sperm into the uterus and beyond. If you are curious as to what your cervix looks like during different stages of your cycle, check out these photos.

THE ‘UP-SUCK’ THEORY

One of the main ways in which female orgasm has been linked to fertility is something called the ‘upsuck’ theory (or, sometimes, the ‘insuck’ theory). This theory proposes that the female orgasm causes uterine and vaginal contractions that actively draw semen up into the uterus and towards the fallopian tubes, thereby increasing the chances of an egg being fertilized.

Scientific evidence to support this theory is rather inconsistent, but there’s certainly no harm in trying! One proposed underlying mechanism of this theory is oxytocin-mediated uterine peristalsis, i.e. the same mechanism that causes uterine contractions during labour could be partially responsible for increasing the likelihood of conception. Indeed, some research has found higher pregnancy rates in women shown to experience this ‘insuck’ phenomenon.

SPERM RETENTION AND FERTILITY

More recently, one small study found that orgasm may increase sperm retention. This study involved women using a syringe to insert a sperm simulant (lube) prior to external stimulation to orgasm. As such, the study’s findings may be especially applicable to anyone undergoing artificial insemination (IUI).

The take-away: Chances are that if you orgasm 1 minute before or up to 45 minutes after insemination (whether artificial or otherwise), you will probably retain more sperm, which may increase your chance of conceiving.

IN CONCLUSION

To sum up, the female orgasm might enhance fertility in a variety of ways, but it isn’t essential to conception.

The take home message is that orgasm and sexual arousal itself have many benefits to fertility, partner relationships and stress relief. Don’t worry though, if you have a low libido, conception can still happen even in the absence of arousal and orgasm!

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What Is Polycystic Ovary Syndrome (PCOS)?

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Polycystic Ovary Syndrome

Polycystic Ovary Syndrome or PCOS is a hormonal imbalance that affects 5 to 10 percent of women of reproductive age across the world, and results in irregular or absent periods, acne, excess body hair and weight gain. It is also a major cause of infertility and yet is frequently misdiagnosed and often missed completely.

PCOS gets its name because under an ultrasound scan, the ovaries can look like a bunch of grapes, each one covered in what look like multiple cysts. In fact, these aren’t cysts at all, but are small, undeveloped follicles.

Symptoms

Not every woman with PCOS will get the same symptoms, but common signs to look out for include:

  • Few or no periods
  • Excess hair on the face or breasts or inside of the legs or around the nipples
  • Acne
  • Oily skin
  • Scalp hair thinning or loss (male pattern baldness)
  • Skin tags (known as acrochordons)
  • Skin discolouration (known as acanthosis nigricans) where the skin looks ‘dirty’ on the arms, around the neck and under the breasts
  • Mood swings
  • Depression
  • Lack of sex drive
  • Weight gain especially around the middle of the body
  • Difficulty in losing weight
  • Cravings and binges
  • Irregular or no ovulation
  • Difficulty in becoming pregnant
  • Recurrent miscarriages

PCOS creates a vicious cycle of hormone imbalances, which has huge knock-on effects throughout the rest of your body. With PCOS, the problem often starts with the ovaries, which are unable to produce the hormones they should, and in the correct proportions. But linked to this is the very common problem of insulin resistance. Women with PCOS very often have difficulties with blood sugar levels which can cause weight gain and the excess insulin can stimulate your ovaries to produce yet more testosterone. Half of all women with PCOS do not have any problems with their weight, yet they can still have higher insulin levels than normal.

How is Polycystic Ovary Syndrome diagnosed?

The most widely accepted criteria for the diagnosis of PCOS says that you should have two out of these three problems:

  • Infrequent or no ovulation
  • Signs (either physical appearance – hirsutism or acne – or blood tests) of high levels of male hormones
  • Polycystic ovaries as seen on an ultrasound scan

The Seven Nutritional Steps to beat Polycystic Ovary Syndrome

Good nutrition is the foundation of your health and you should never underestimate how powerful it can be. It is the fuel that provides you with the energy to live your life and it gives your body the nutrients it needs to produce your hormones in the correct balance. The better the supply of those nutrients, the more healthily your body will function.

The fundamental aim of my nutritional approach to PCOS is to target a number of areas simultaneously so that you get the maximum effect in the minimum amount of time.  

Here’s how:

  1. Switch to unrefined carbohydrates (eaten with protein) and never go more than 3 hours without food to keep your blood sugar levels balanced
  2. Eat oily fish and foods rich in Omega 3s to help your body to become more sensitive to insulin so it can overcome insulin resistance
  3. Cut out all dairy products for 3 months to bring levels of male hormones under control
  4. Eat more vegetables and pulses to which helps control male hormones
  5. Cut right back on or cut out alcohol for 12 weeks to allow your liver function to improve
  6. Cut down on caffeine to give your adrenal glands a rest
  7. Cut down on saturated fats and eliminate trans fats to help control the potentially damaging inflammatory processes PCOS causes in the body

PCOS Symptons

Best Supplements for PCOS

The use of certain vitamins and minerals can be extremely useful in helping to correct Polycystic Ovary Syndrome, along with a good diet.

Chromium

Chromium helps to encourage the formation of glucose tolerance factor (GTF), which is required to make insulin more efficient. A deficiency of chromium can lead to insulin resistance.  It also helps to control cravings and reduces hunger. Can help to reduce insulin resistance associated with PCOS

B vitamins

The B vitamins are very important in helping to control the symptoms of PCOS. Vitamin B2 helps to burn fat, sugar and protein into energy. B3 is a component of GTF which is released every time blood sugar rises, and vitamin B3 helps to keep the levels in balance. Vitamin B5 has been shown to help with weight loss and B6 is also important for maintaining hormone balance and, together with B2 and B3, is necessary for normal thyroid function.

Zinc

Zinc helps with PCOS as it plays a crucial role in the production of your reproductive hormones and also regulates your blood sugar.

Magnesium

Magnesium is an important mineral for dealing with PCOS because there is a strong link between magnesium levels and insulin resistance – the higher your magnesium levels the more sensitive you are likely to be to insulin.

Co-Enzyme Q10

Co-Q10 is a substance that your body produces in nearly every cell.  It helps to balance your blood sugar and lowering both glucose and insulin.

Alpha lipoic acid

This powerful antioxidant helps to regulate your blood sugar levels because it releases energy by burning glucose and it also helps to make you more insulin sensitive. It also has an effect on weight loss because if the glucose is being used for energy, your body releases less insulin and you then store less fat.   

Omega 3 fatty acids

Omega 3 fatty acids taken in supplement form have been found to reduce testosterone levels in women with Polycystic Ovary Syndrome.

Amino Acids

Certain amino acids can be very helpful for PCOS as they can improve your insulin sensitivity and also can have an effect on weight loss.

N-Acetyl cysteine

In women with PCOS this amino acid helps reduce insulin levels and makes your body more sensitive to insulin. Study using NAC in women who were clomiphene resistant and had ovarian drilling.  After ovarian drilling, the women given NAC compared to a placebo showed a significantly higher increase in both ovulation and pregnancy rates and lower incidence of miscarriage.

Arginine

Arginine can be helpful in reversing insulin resistance. In one study, a combination of both arginine and N-acetyl cysteine were given to women with Polycystic Ovary Syndrome.  The two amino acids help to improve blood sugar and insulin control and also increased the number of menstrual cycles and ovulation with one women becoming pregnant on the second month.

Carnitine

Carnitine helps your body break down fat to release energy and can help improve insulin sensitivity.

Tyrosine

Tyrosine is helpful for women with PCOS who are overweight as it helps to suppress the appetite and burn off fat.

Glutamine

This amino acid is useful for helping with sugar cravings as it can be converted to sugar for energy and so takes away the need to eat something sweet.  It also helps to build and maintain muscle which is important for fat burning.

Branched Chain Amino Acids (BCAAs)

BCAAs include three amino acids leucine, isoleucine and valine. They are important in PCOS because they help to balance blood sugar and having good levels of these BCAAs can have a beneficial effect on your body weight

Inositol

A study used inositol (2,000mg) in combination with NAC (600mg), a significant increase in ovulation rates.

Having a good diet, regular exercise, controlling stress and taking key nutrients will help in getting your hormones back in balance and reducing the negative symptoms associated with PCOS.

More information can be found on www.naturalhealthpractice.com

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