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DNA of fetus revealed through risk-free testing

Scientists have pieced together the entire DNA sequence of an 18-week-old fetus without having to use any invasive tests that could result in a miscarriage — an advance that offers a glimpse of the future of prenatal testing.

Using blood drawn from the mother and a sample of saliva from the father, the researchers were able to scan the fetus’ genome and determine whether it contained any of the myriad single-letter changes in the DNA code that can cause a genetic disorder. They could even pinpoint which mutations were inherited from Mom, which came from Dad, and which were brand-new.

If the technique is refined and the technology becomes inexpensive — as many experts anticipate — this type of prenatal testing could provide prospective parents with a simple, risk-free way to screen for a broad array of simple genetic disorders, according to the authors of a report in Thursday’s edition of Science Translational Medicine.

Read full article.

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Online Tool Helps Track Menopause Symptoms

A full 72 percent of women experiencing menopausal symptoms have not received treatment for them, according to a new survey by the Endocrine Society.  The poll, conducted in mid-April, also found that 60 percent of women exhibiting symptoms of menopause have not talked to their primary health providers about possible treatment.

The statistics prompted the Endocrine Society and its Hormone Health Network to develop a so-called Menopause Map — an interactive online quiz that helps women and their doctors discuss what treatment options (hormonal or nonhormonal) might be the most effective for them.

Menopausal women who are about to or have already stopped menstruating may also experience hot flashes, sweating, insomnia, mood swings, fatigue, depression and vaginal dryness, among others. Although the tool does not encourage women to pursue one avenue of treatment over another, it prompts women to consider a range of options to alleviate menopausal symptoms, including hormone therapy.

Read the full article.

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Gender Selection – How and Why?

Gender selection is a fairly new option in the field of fertility treatment. Patients undergoing IVF can now choose whether to use a male or female embryo. Here are some frequently asked questions about this process.

What Technology is Used?

Preimplantation Genetic Diagnosis (PGD) is the only reliable method for selecting the gender of a child. Sperm sorting is sometimes used by couples in the hope of increasing the chances of conceiving a child of the desired sex. However, the effectiveness of this method is unproven lacking data from large, multicenter trials.

How Does PGD Work?

After an egg has been fertilized in an IVF dish, it is allowed to develop for 3 days. After this, a single cell is removed from the embryo. It is evaluated for Y chromosome (the male chromosome) markers. If these genetic markers are present, the embryo is male. If not, the embryo is female.

Is This Process Safe and Reliable?

The process of PGD does not prevent an embryo from developing normally. The results of the evaluation are available after about 2 days. This means the embryo is transferred to the mother’s womb on the 5th day instead of the 3rd day. This is still within the time frame for successful embryo transfer. This method of determining the sex of an embryo has been shown to be 99% accurate.

Why Might Patients Choose this Option?

Patients sometimes use gender selection if they already have children of one gender and wish to balance their family with a child of the opposite gender. Or, the family may have a history of genetic disorders that are passed down through the X chromosome. These recessive traits typically affect male children because they have only one X chromosome. Choosing to have a girl makes it unlikely that this disease will affect the child. Some patients simply prefer to have a child of a specific gender.

Are There Ethical Concerns about Gender Selection?

Some people feel that selection of non-essential characteristics like gender is not an appropriate use of medical technology. Others believe gender selection is an aspect of reproductive rights and parents should be allowed to make this decision. The use of this technology to prevent genetic disease or to provide family balancing is typically viewed as less controversial than other uses.

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What Is The Process For Fertility Testing?

Nine out of ten couples with a female partner under the age of 35 who are actively trying to get pregnant succeed within one year. The chance of a pregnancy is about 20% per month. For couples who fail to achieve pregnancy after one year (and for women over the age of 35 after 6 months) fertility testing is recommended to identify any obstacles that could prevent pregnancy.

A full medical history and physical examination can reveal problems related to pelvic surgery, cancer treatment, or menstrual disturbances that cause infertility.

Fertility testing is done to rule out specific problems in four areas:

Sperm Testing

For approximately one out of four couples, the quality or quantity of the male partner’s sperm is the underlying cause of infertility. Semenalysis can reveal issues with the sperm count, the motility of sperm (its ability to swim), and the morphology (shape) of the sperm.

Ovulation

For women with a history of irregular menses who do not ovulate regularly, underlying medical conditions may be the cause of low fertility. Common problems include thyroid imbalances, high levels of a hormone called prolactin, or polycystic ovarian syndrome (PCOS). Blood tests and ultrasound exams are used to diagnose these conditions.

Uterus and Fallopian Tubes

Fallopian tubes that are closed can interfere with fertility by making it impossible for an embryo to reach the uterus. Causes of blockage may include previous pelvic surgery or complications from STDs. The uterus may also contain fibroids or polyps that limit the chances of pregnancy. An exam called a hysterosalpingogram (HSG) is used to detect structural problems with the fallopian tubes and uterus. It involves the injection of a contrast dye into the cervix to make the patient’s internal reproductive organs visible in x-rays.

Eggs

The quality and quantity of a woman’s eggs plays a vital role in fertility. Egg quality cannot be determined with fertility testing, but it is strongly correlated with age. The quantity of eggs can be estimated using blood tests such as the FSH (follicle stimulating hormone) and AMH (anti-mullerian hormone). AFC (antral follicle count) is an ultrasound test that can also assist in estimating the number of eggs available.

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Waiting for Motherhood

Late motherhood is a growing trend in the United States with 8 times as many women giving birth to their first child beyond the age of 35 as compared to four decades ago.

The most important predictor of fertility is female age. As women age, egg counts and egg quality, defined as the egg’s ability to create a chromosomally normal embryo, both decline. This results in higher rates of infertility, miscarriage and childlessness.

Women are born with a set number of eggs. Every month, eggs are lost through ovulation and natural egg death. By age 30, women lose 88% of their life supply of eggs and by age 40, egg loss reaches 97%. The chance of a live birth from natural conception on a monthly basis declines from 20% at age 30 to 15% at age 35, 10% at age 40 and only 1-2% at age 45.

Based on the above, women should consider having children earlier in life in order to prevent infertility and childlessness. Those who are not ready to have children should consider a fertility check-up to estimate the number of remaining eggs and identify health factors that could impact later efforts to conceive. Women may also wish to consider fertility preservation by freezing eggs or embryos while they are still reproductively young.

Fertility Treatments

A variety of fertility treatments are available for women in their late 30’s and early 40’s who are having difficulty conceiving. In general, fertility treatments increase the chance of pregnancy by stimulating the ovary to grow multiple eggs as opposed to the one egg that typically grows each month. Multiple egg recruitment can be achieved by taking a fertility pill called clomiphene citrate or by daily injections of the hormone FSH.

Fertilization occurs by natural intercourse, artificial insemination or by harvesting the eggs and fertilizing them in a laboratory, a procedure called in vitro fertilization (IVF). For women over the age of 44, the only viable fertility option is to use egg donation. Surrogacy, whereby another woman carries the pregnancy, is usually reserved for cases where pregnancy poses a significant medical risk to the intended mother.

The chance of a live birth is primarily based on female age. Live birth rates per embryo transfer using in vitro fertilization, the most advanced fertility treatment, are approximately 40% for women under 35 and 20% for women age 40. After age 40, live birth rates per embryo transfer drop by 5% each year to a low of 1-2% by age 45. The live birth rate from egg donation is 55-65% per embryo transfer. Miscarriage rates rise from a low of 15% at age 30, to 30-40% between ages 40-44, to over 60% after age 45.

The underlying reason for these poor rates is waning egg quality, which leads to higher rates of chromosomal abnormalities within the embryo. For these reasons, egg donation is often recommended for women over 44 and those who continue to fail IVF treatments.

In 2009, almost 30,000 cycles of IVF were performed in the US on women over 40. There were approximately 18,000 egg donation cycles that same year. The costs of fertility treatments are high. This is primarily due to the lack of insurance coverage. In general, a cycle of artificial insemination costs $500-1000, a cycle of IVF $15,000, a cycle of egg donation $30,000 – 40,000, and a surrogacy cycle $80,000 – 100,000.

Maternal and Fetal Risks

There are increased risks associated with pregnancy as women age. Maternal risks include increased incidences of high blood pressure in pregnancy, gestational diabetes, and Cesarean section. Risks to the fetus include higher rates of miscarriage and birth defects, preterm labor and delivery, and low birth weight.

A lot of controversy surrounds the question of whether fertility treatments such as IVF contribute to maternal and fetal risks. There are reports demonstrating an association between fertility treatments and ovarian cancer, autism and some very rare genetic conditions called imprinting disorders. However, it is becoming clear that infertile women are different biologically than fertile women and that some of the maternal and fetal risks outlined above are attributable to being infertile and not to fertility treatments. There is also emerging evidence that older fathers may contribute to some of these adverse outcomes.

In order to properly interpret risks, women should remember that even though risk is quoted as multiple folds of a baseline value, overall risk still remains low when dealing with rare conditions. For example, if the baseline risk for a condition is 1 per 10,000 women, a 3-fold increase in risk would be 3 per 10,000, which is still pretty rare.

It should be remembered that over 4 million babies have been born worldwide from advanced fertility treatments over the past 30 years. Many of these children have reached adolescence and beyond and do not demonstrate an increase in developmental or cognitive deficiencies. Improved surveillance of women who undergo fertility treatment, including egg donors and the children born from these treatments will help to better define and quantify the true risks.

Women are seeking motherhood later in life and will continue to do so as they take on greater leadership roles in business and household. Women are not being adequately counseled on the seriousness of age-related infertility. Fertility treatments offer some opportunity, but come with high cost, low success rates, and the possibility of increased maternal and fetal risks.

Women can inform their reproductive choices by seeking good information on age-related infertility, undergoing a fertility check-up, and most importantly, by having children earlier in life.

by: Dr. John Jain

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The Effect of Alcohol on Fertility

The data regarding the effects of moderate alcohol intake on fertility is inconclusive at this time. The largest prospective studies conducted in Europe indicate that high levels of alcohol consumption are associated with greater difficulty conceiving.

One small Danish study identified a slight delay in conception even with alcohol ingestion of 5 drinks or less per week. However, this research relies on self-reporting of alcohol consumption which may be inaccurate. In many cases, the studies do not fully account for other factors that could be affecting fertility.

Don’t Overdo It

When you are attempting to conceive, taking a moderate approach to alcohol consumption is the wisest course of action. If having an occasional beer or glass of wine once or twice a week is part of your normal lifestyle, this is unlikely to have a significant effect on your ability to conceive. Drinking every day or consuming several drinks at one sitting is behavior you should avoid. High levels of alcohol can negatively affect many aspects of your health and is probably not good for eggs or sperm development either.

Alcohol and Pregnancy

If you think you might be pregnant, it’s time to stop consuming alcohol. Fetal harm from exposure to alcohol in the womb can lead to lifelong health problems. In fact, Fetal Alcohol Syndrome (FAS) caused by maternal alcohol consumption is the leading identifiable cause of neuro-developmental disorders and birth defects in babies. No “safe level” of prenatal alcohol exposure has been identified, so pregnant women are advised to abstain from alcoholic beverages altogether.

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Pregnancy Myths

Getting pregnant is not easy for every couple. There are some steps women can take to promote optimal fertility through better health. However, there are also many myths about how pregnancy and fertility work. Knowing what works and what doesn’t can keep couples from wasting time and money on unproven and unscientific remedies.

Here are several myths about pregnancy that many people believe:

Myth: Some sexual positions boost your chances of getting pregnant.

Fact: No sexual position increases the likelihood of pregnancy. Neither does having the female partner stand on her head or lie with her legs up in the air after intercourse. The natural angle of the vagina promotes pooling of semen right where it is supposed to be. Changes in cervical mucus leading up to ovulation help sperm move efficiently into the uterus.

Myth: There are techniques you can use to make sure you conceive a baby that is the gender you want.

Fact: It is not possible to consistently select the sex of a baby through any means when conceiving naturally. It is possible to increase the likelihood of having a baby of the desired gender through sperm sorting prior to artificial insemination. The only way to be certain of selecting the desired gender is by screening embryos prior to transfer during IVF treatment.

Myth: Guys need to rest up for a day or more between sexual encounters to increase the potency of their sperm.

Fact: Men with normal sperm can have sexual intercourse daily. This doesn’t decrease the likelihood of a couple achieving a pregnancy.

Myth: There are pills and supplements you can take to increase male or female fertility.

Fact: There is no magic supplement that enhances fertility. No herb, vitamin, dietary supplement, or wonder food will increase your chances of getting pregnant or help you get conceive sooner.

Myth: Infertility is a problem for women but not for men.

Fact: Actually, in 25% or more of infertility cases, it’s the male factor that is the underlying cause. This is why both partners are tested during fertility treatment.

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Preconception Health

Getting pregnant and carrying a pregnancy to term is easiest when a woman’s overall health is optimized through appropriate self care. Here are the 5 main factors women can control to increase their fertility:

 

 

Nutrition
Eating a balanced diet promotes ideal health. In general, whole foods are the best choice. Women who avoid certain food groups due to dietary restrictions for health or other reasons may wish to consult with a nutritionist to ensure that they are still getting all the nutrients their body needs. Supplements such as prenatal rich in folic acid are recommended for women who want to get pregnant.
 
Harmful Substances
Women who smoke should stop as soon as possible since smoking delays the time to conception and can lead to early onset of infertility. Women who consume alcohol or caffeine in substantial quantities should cut back or cease using these substances to increase their overall wellbeing and lower the chance of miscarriage.
 
Weight Management
Maintaining a healthy body weight increases the chances of getting pregnant. It can also decrease the risk of miscarriage, birth defects, and gestational diabetes. Eating a moderate amount of nutritious food and exercising regularly is the best way to achieve sustainable weight loss and prepare for pregnancy.
 
Stress Reduction
High levels of chronic stress affect hormone levels in the body and may interfere with fertility. There are a variety of relaxation techniques that can help with stress reduction including yoga, acupuncture, and acupuncture massage. In general, simply taking time out to relax is a good course of action for relieving stress in preparation for getting pregnant.
 
Frequency and Timing of Intercourse
An egg is viable for less than 24 hours after ovulation. This means there is a narrow window of opportunity for fertilization. Couples who are trying to conceive should have sex daily or every other day during the 7 day time period ending on the day of ovulation.
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What Is Polycystic Ovary Syndrome

Polycystic Ovary Syndrome (PCOS) is a common hormonal disorder that affects millions of women in the U.S. The underlying cause of this condition is not known.
 
Like most medical problems that are referred to as “syndromes”, PCOS is made up of a cluster of signs and symptoms. Women with polycystic ovary syndrome may have some or all of the following features:
 
  • Irregular or skipped menstrual periods
  • Obesity and difficulty controlling weight gain
  • Male pattern hair growth
  • Acne and other chronic skin conditions
  • Dark brown or black patches on the skin
 
Various hidden health problems such as diabetes or uterine cancer may be discovered with medical tests. Diagnosis is made by evaluating the presence of multiple symptoms and ruling out other conditions.
 
Polycystic Ovary Syndrome and Infertility
PCOS is the most common hormonal abnormality causing infertility in women. It affects fertility by suppressing ovulation. Egg follicles may begin to mature but do not ovulate or release the egg into the fallopian tube. These follicles remain as cysts in the ovaries. In women with PCOS, the ovaries also produce excessive amounts of testosterone (male hormone) that can lead to acne and hair growth. In the fat cells, testosterone is converted to estrogen, leading to excessive buildup of the uterine lining which may contribute to heavy or irregular bleeding.
 
Fertility Treatment for PCOS
High levels of insulin associated with obesity interfere with ovulation and also worsen PCOS symptoms. Minimizing insulin resistance via a healthy, safe weight loss regimen is a common first step for patients with PCOS who want to make conception more likely. Insulin regulating medications may also be prescribed. Some women are able to begin ovulating more normally at this point and may be able to conceive naturally.
Fertility enhancing drugs such as Clomid, Metformin and gonadotropins may be used to stimulate ovulation. This approach is tried after other potential causes of infertility have been ruled out. In-Vitro-Fertilization can also be used for some women with PCOS.
 
by: Dr. John Jain
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Infertility Terms You Should Know

If you are seeking fertility treatment, you will hear many new words you may not be familiar with. The following are infertility terms you may need to know to fully understand your treatment options:
 
 

Aneuploidy – An abnormal chromosome count. This is an indication of serious defects in a fertilized egg that usually lead to early miscarriage.

Artificial Insemination – Introduction of sperm into a female patient’s reproductive tract through means other than intercourse.

Basal Body Temperature – The low body temperature reached after a night of sleep before a person gets up and begins moving around. A slight increase in this temperature usually occurs upon ovulation.

Basal Body Temperature Charting – Recording each daily temperature, plotted onto a graph in order to ultimately recognize a pattern. Your body temperature can rise gradually, suddenly or in steps. These patterns can differ from cycle to cycle.

Clomiphene Citrate (Clomid) – Clomid is a drug that stimulates ovulation by increasing production of gonadotropins (pituitary gland hormones). This is a commonly prescribed medication for infertility that involves menstrual cycle irregularities.

Egg Donation – Young women who wish to assist an infertile couple in achieving a pregnancy may undergo a course of hormone injections to stimulate a large number of eggs to mature at once. These donated eggs are retrieved and may be used immediately or frozen.

Egg Retrieval – Eggs are removed from a patient’s ovaries for use in vitro fertilization. This outpatient procedure involves the use of a long needle inserted through the vaginal wall to suction the eggs from the ovaries.

Embryo – A fertilized egg is referred to as an embryo until about week 8 of gestational development. After this, the term fetus is used instead of embryo.

Embryo Biopsy – A diagnostic test used to identify chromosomal abnormalities. This procedure is done by removing a single cell from an embryo that is developing in an IVF dish. The biopsy does not interfere with normal development.

Embryo Cryopreservation – Freezing of fertilized eggs for future use. This step sometimes allows multiple IVF attempts to be carried out from a single follicle stimulation/egg retrieval cycle.

Embryo Transfer – Introducing embryos that have developed for several days in an IVF dish into a woman’s uterus. The embryos are transferred via a flexible tube inserted through the cervix.

Endometriosis – A painful medical condition that causes abnormal growth of endometrial tissue (the type of tissue that lines the uterus). Endometriosis can cause fallopian scarring and other issues that lead to infertility

Fibroid – A non-cancerous tumor that grows on the wall of the uterus. Fibroids can occasionally interfere with fertility.

FSH Injections (Gonadotropins) – Follicle Stimulating Hormones trigger the maturation of eggs in the ovaries and make them ready for retrieval. These hormones are injected just under the skin.

Gender Selection – Selection of the desired gender either through sperm sorting or the much more accurate method of inspecting a developing embryo prior to transfer into the uterus.

Hydrosalpinx – Blockage of the fallopian tube with a clear liquid that prevents the passage of an egg and results in infertility. This medical condition is typically caused by infection with an STD that damages the fallopian tube at the end nearest the ovary.

Intracytoplasmic Sperm Injection – Injection of a single sperm directly through the protective outer shell of an egg into the cytoplasm. The fertilized egg is kept in the IVF dish and observed to ensure fertilization and normal development before transfer.

Intrauterine Insemination – Sperm is collected from the male partner and processed to remove the semen components and concentrate the sperm. This sample is introduced into the female partner’s uterus. From there, the sperm travels to the fallopian tubes to fertilize an egg.

In-Vitro Fertilization – Sperm are introduced into an IVF dish that contains an egg so that fertilization occurs outside the patient’s body. The term In-Vitro Fertilization is often used to refer to the whole cycle of follicle stimulation, egg retrieval, fertilization, and transfer into the uterus.

MESA – Micro Epididymal Sperm Aspiration is a surgical procedure performed to retrieve sperm from the duct that stores sperm as it matures. It involves making a very small incision in the scrotum.

Oocyte Cryopreservation – Retrieval, freezing, and storage of a woman’s eggs for use in future fertility treatment.

Ovarian Reserve – The number of viable eggs a woman has remaining.

Ovulation – Release of a mature egg from the ovary into the fallopian tube where it can be fertilized. This normally happens once every 28 days about halfway through each menstrual cycle.

Ovulation Monitor – A device that measures hormones in the urine, sweat or other body fluids to determine when an egg is about to be released and can be used to pinpoint the best days for intercourse to achieve pregnancy.

Polyp – Excessive growth of endometrial tissue on stalks protruding from the lining of the uterus into the uterine cavity. These may cause miscarriage.

Pre-Implantation Genetic Diagnosis – Genetic screening of embryos for abnormal chromosome counts or mutations while they are developing in an IVF dish. PGD increases the success rate of IVF by detecting and screening out any embryos that cannot survive.

Semen Analysis – Evaluation of a semen sample to determine if the number, movement, and shape of a male partner’s sperm are normal.

TESE – Testicular Sperm Extraction is a surgical biopsy technique used to retrieve viable sperm from the testicles of men who cannot give a sperm sample by other methods.

Varicocele – A varicose vein occurring in the scrotum. When the valve in the vein fails, blood accumulates causing the vein to swell – potentially affecting fertility.

Vasectomy Reversal – Surgical reconnection of the vas deferens (ducts that carry sperm from the testicles to the point where the sperm is mixed with semen). This procedure may be used to restore normal fertility to a male partner.

Zygote Intrafallopian Transfer – Placement of a newly fertilized egg (zygote) directly into the fallopian tube. Returning the egg to its natural environment increases the chances of successful development and implantation.