“CDC states:

• Over 60 million women (44%) in the United States are living with some form of heart disease.1 Heart disease is the leading cause of death for women in the United States and can affect women at any age.
• Heart disease is the leading cause of death for women in the United States and can affect women at any age.
• High blood pressure is a major risk factor for heart disease.
• In 2021, it was responsible for the deaths of 310,661 women—or about 1 in every 5 female deaths.2 Only about half (56%) of US women recognize that heart disease is their number 1 killer.
• Knowing the facts about heart disease—as well as the signs, symptoms and risk factors—can help you take steps to protect your health and seek proper treatment if you need it.”

Center for Disease Control and Prevention – CDC

(About Women and Heart Disease | Heart Disease | CDC)

Many many women and their doctors don’t know that heart disease is the number one killer of women. Furthermore, the heart disease that is seen in women is often not quite the same as heart disease in men.

Let’s remember that Heart disease is an umbrella term that includes heart failure, coronary artery disease (CAD), arrhythmias, angina, and other heart-related infections, irregularities, and birth defects

These facts lead to two common (and sometimes tragic) misapprehensions held by many women and their doctors: That women don’t really get much heart disease, and when they do, it behaves pretty much like the heart disease that men get.

The truth is that not only is heart disease very common in women, but also, when women get heart disease it often acts quite differently than it does in men. Failing to understand these two fundamental truths leads to a lot of preventable deaths and disability in women with heart disease.

If you are a woman, you need to know the basics about heart disease – especially heart disease as it behaves in women.

When women have angina, they are more likely than men to experience “atypical” symptoms. Instead of chest pain, they are more likely to experience a hot or burning sensation, or even tenderness to touch, which may be located in the back, shoulders, arms or jaw – and often women have no chest discomfort at all. An alert doctor will think of angina whenever a patient describes any sort of fleeting, exertion-related discomfort located anywhere above the waist, and they really shouldn’t be thrown off by such “atypical” descriptions of symptoms. However, unless doctors are thinking specifically of the possibility of CAD, they are all too likely to write such symptoms off to mere musculoskeletal pain or gastrointestinal disturbances.

Women are more likely than men to have heart attack symptoms unrelated to chest pain, such as:

• • • Neck, jaw, shoulder, upper back or abdominal discomfort.
    • Shortness of breath.
    • Right arm pain.
    • Nausea or vomiting.
    • Sweating.
    • Lightheadedness or dizziness.
    • Unusual fatigue.

Heart attacks (or myocardial infarctions)  also tend to behave differently in women.

Frequently, instead of the crushing chest pain that is considered typical for a heart attack, women may experience nausea, vomiting, indigestion, shortness of breath or extreme fatigue – but no chest pain. Unfortunately, these symptoms are also easy to attribute to something other than the heart. Furthermore, women (especially women with diabetes) are more likely than men to have “silent” heart attacks – that is, heart attacks without any acute symptoms at all, and which are diagnosed only at a later time, when subsequent cardiac symptoms occur.

The Diagnosis of CAD in Women Can Be More Difficult.

Diagnostic tests that work quite well in men can be misleading in women. The most common problem is seen with stress testing – in women, the electrocardiogram (ECG) during exercise can often show changes suggesting CAD, whether CAD is present or not, making the study difficult to interpret. Many cardiologists routinely add an echocardiogram or a thallium study when doing a stress test in a woman, which greatly improves diagnostic accuracy.

In women with typical CAD, coronary angiography is every bit as useful as in men; it identifies the exact location of any plaques (i.e., blockages) within the coronary arteries, and guides therapeutic decisions. However, in women with atypical coronary artery disorders (to be discussed in the next section), coronary angiograms often appear misleadingly normal. Thus, in women angiography is often not the gold standard for diagnosis, as it is for most men.

CAD In Women Can Take Atypical Forms.

At least four atypical coronary artery disorders can occur in women, usually in younger (i.e., pre-menopausal) women. Each of these conditions can produce symptoms of angina with apparently “normal” coronary arteries (that is, coronary arteries that often appear normal on angiogram). The problem, obviously, is that if the physician trusts the results of the angiogram, he/she is likely to miss the real diagnosis.

DALLAS, February 19, 2013 — A new study show women’s heart disease awareness is increasing.  A study with the number of women aware that heart disease is the leading cause of death nearly is doubling in the last 15 years, but that this knowledge still lags in minorities and younger women, according to the American Heart Association (AHA).

Among the study’s major findings, researchers comparing women’s views about heart disease in 1997 and today found:

• In 2012, 56 percent of women identified heart disease as the leading cause of death compared with 30 percent in 1997.
• In 1997, women were more likely to cite cancer than heart disease as the leading killer (35 percent versus 30 percent); but in 2012, only 24 percent cited cancer.
• In 2012, 36 percent of black women and 34 percent of Hispanic women identified heart disease as the　top killer — awareness levels that white women had in 1997 (33 percent).
• Women 25-34 years old had the lowest awareness rate of any age group at 44 percent.

Among the women surveyed in 2012, researchers found:

• Racial and ethnic minorities reported higher levels of trust in their healthcare providers compared with whites, and were also more likely to act on the information provided—dispelling the myth that mistrust of providers contributes to disparities.
• Compared with older women, younger women were more likely to report not discussing heart disease risk with their doctors (6 percent among those 25-34 versus 33 percent for those 65 and older).

Risk Factors for Heart Disease in Women – Those we can’t change = Nonmodifiable Factors:

Age and Family History, Gender, Ethnicity.

The risk of having heart disease increases with age and this is due to stiffening of heart muscles which makes the heart less efficient in pumping blood around the body. You can determine your heart age by using this tool, developed by the British Heart Foundation: https://www.bhf.org.uk/heart-health/risk-factors/check-your-heart-age.

Another risk factor you cannot change is if you have a history of heart disease among family members. This can double your risk, so if your mother, father, sister or brother has suffered from heart disease before the age of 60 you are at a greater risk of developing heart disease.

Modifiable Risk Factors – Those we can change are:

1-Smoking is the single largest preventable cause of death in Australia, and approximately 40% of women who smoke die due to heart disease, stroke or blood vessel disease. Smokers are 2-4 times more at risk of developing heart disease compared to non-smokers. In 2011/2012, over 1.3 million women in Australia smoked, and 89% of them did this on a daily basis. While these numbers are for women aged 15 and over, the largest group were in the 25-34 age group.

Passive smoking (exposure to the cigarette smoke of others) also causes an increase in the risk of developing heart disease, which increases further in people having high blood pressure or high cholesterol. Women who smoke and also take the contraceptive pill have a 10 times higher risk of having a heart attack.

2-Alcohol. Do you know that drinking too much alcohol increases the risk of heart disease? Excessive drinking causes more weight gain (due to increased calories!), increase in blood pressure and blood lipids. Over a long period of time it can weaken the heart muscle and cause abnormal heart rhythms. Try and not drink alcohol every day, limit it to two standard drinks at a time and aim for at least two alcohol free days a week and make sure you don’t increase the amount you drink on the other days. Periodically take a break from any alcohol for a week or more and you will notice many benefits including a better nights sleep.

3.High Blood Pressure or Hypertension. Your blood pressure is a measurement of how ‘hard’ your heart is working to push blood around your body, through the blood vessels. It can be a ‘silent’ killer and if you do not know your blood pressure then it is worth having it checked by your GP. Changing your lifestyle will reduce your blood pressure. A recent study suggests that keeping your blood pressure under 140/90 can increase your life expectancy by 5 years at the age of 50 years. You can assess your high blood pressure through your MD monthly or less expensive buy a b/p machine and check your b/p everyday especially if your on antihypertensive meds to make sure your b/p isn’t under 100/60 to prevent hypotension.

4.Diabetes. Do you have diabetes and if so, is it under control?

Diabetes doubles your risk of having heart disease. People who have uncontrolled diabetes are at risk of having heart disease at an earlier age. For pre-menopausal women, having diabetes cancels the protective effects of hormone present in women and significantly increases the risk of heart disease. Taking steps to find out what your blood sugar is and keeping it well-controlled is essential.

5.Obesity- Do you know your body fat content? 　If you think that you are overweight then you put yourself at risk of having heart disease. Being overweight will increase your blood pressure and contribute to developing diabetes. In addition to that, women who carry weight around their middle (belly fat) as opposed to their hips are twice as likely to develop heart disease.

By taking the steps to reduce your weight, you can reduce your risk of heart disease. A great tool developed by National Heart Foundation of Australia calculates if you might be at risk: http://www.heartfoundation.org.au/healthy-eating/Pages/bmi-calculator.aspx

6- INACTIVE-Are you physically active every day? Recent research indicates that “sitting is the new smoking” and being physically inactive can double your risk of having heart disease. It is important to get some exercise every day, such as a 30 minute walk where you raise your heart rate. It also raises your serotonin levels (feel-good hormone) and can reduce depression

7- STRESS-We could almost ask – do you know anyone who is not stressed?! However, while everyday life is stressful, those people who are almost constantly stressed are at risk of adopting unhealthy behaviours in order to reduce their stress levels. Examples include increasing their alcohol intake or smoking in order to relax; or tending to eat more junk food because they are often short of time. All of these factors increase their risk of heart disease.

Women, stress and the risk of heart disease

Along with poor diet, lack of exercise and smoking, unmanaged stress may increase the risk for heart disease. Now medical experts are discovering that mental stress affects women in different, and in some cases, more devastating ways, especially if they already have coronary conditions. One study that…

Heart disease is the leading cause of death for men and women in the United States. Every year, 1 in 4 deaths are caused by heart disease. The good news? Heart disease can often be prevented when people make healthy choices and manage their health conditions. Communities, health professionals, and families can work together to create opportunities for people to make healthier choices. Make a difference in your community: Spread the word about strategies for preventing heart disease and encourage people to live heart healthy lives

“MS itself is not usually fatal. However, the disorder may increase the risk of life-threatening complications, such as severe infections or swallowing difficulties, that can set the stage for pneumonia.

On average, the lifespan for people with MS is about five to 10 years shorter than for the general population, but this gap is getting shorter as treatments and care continue to improve.\

Most people with MS experience two stages of disease. The first stage is relapsing-remitting MS (RRMS), which is characterized by episodes of new or worsening symptoms (relapses), interspersed with periods of partial or complete recovery from symptoms (remission).

Most RRMS patients will gradually enter a progressive phase of disease, called secondary progressive MS (SPMS), in which symptoms continually worsen over time, even when no relapses occur.

The time it takes to progress from RRMS to SPMS often varies substantially from person to person and potentially can be influenced by the use of disease-modifying therapies (DMTs). If left untreated, about half of RRMS patients would progress to SPMS within 10 years of disease onset. But when most patients received treatment, only about 10% converted to SPMS, and over a median of 32 years.”

MULTIPLE SCLEROSIS news today (MS prognosis and life expectancy)

Treatment for Multiple Sclerosis:

Today multiple sclerosis (MS) is not a curable disease. Effective strategies can help modify or slow the disease course, treat relapses (also called attacks or exacerbations), manage symptoms, improve function and safety, and address emotional health.

The model of comprehensive MS care involves the expertise of many different healthcare professionals — each contributing in a unique way to the management of the disease and the symptoms it can cause. Sometimes this team works within a single center, offering “one-stop shopping” for people with MS. More often, people are referred by their MS physician to other specialists in the community.

In either case, the goal is comprehensive=coordinated care to manage the disease and promote comfort, function, independence, health and wellness to its OPTIMAL LEVEL.

There are several types of MS:

For an acute exacerbation of multiple sclerosis that can result in neurologic symptoms and increased disability or impairments in vision, strength or coordination, the preferred initial treatment is usually a type of steroid called a glucocorticoid. Patients who do not have a good response to steroidal therapy are often treated with plasma exchange. Plasma exchange is an extreme therapy that removes antibodies to myelin from the blood.

Some patients have disease that will have an acute exacerbation followed by a prolonged quiet period, which can last years or decades. This form of disease is referred to as relapsed remitting MS, or RRMS. Patients with relapsing MS=RRMS are often treated with immune-modulating drugs such as interferon or glatiramer acetate. Glatiramer is an exciting drug. It is a series of small proteins that are similar to myelin protein. It is thought to prompt the immune system to avoid attacking myelin.

Others have a disease that gets progressively worse over time.

There are two types of progressive disease:

1 In primary progressive MS, or PPMS, symptoms steadily worsen over time from the very beginning.

Progressive MS also referred to as disease-modifying therapies (DMTs).

Presently, these include 15 drug therapies to slow MS activity and progression, each of which is approved by the United States Food and Drug Administration (FDA) for relapsing forms of MS (and some are also approved for clinically isolated syndrome, prior to the diagnosis of MS). One of the medications, Ocrevus™ (ocrelizumab) is also approved for primary-progressive MS. In nearly all instances, these drugs are prescribed individually, so a patient only takes one DMT during any time period. Of these 15 approved drugs, eight are given at home via injection; four are given by a medical professional via intravenous (IV) infusion; and three are taken orally.

In brief, no clinical trial has shown convincing evidence of benefit in the treatment of primary progressive MS. All suggested treatments for PPMS are empiric. Several drugs that are more commonly used in the treatment of malignancy, cladribine and mitozantrone, appear to have some activity.

2 Secondary progressive MS, known as SPMS, begins as relapsed remitting disease and becomes progressive over time.

Available treatments of primary and secondary progressive MS are of limited efficacy and have significant side effects. An additional fact to consider is that most trials have not lasted longer than two or three years and give only hints about long-term results of treatment.

In brief, no clinical trial has shown convincing evidence of benefit in the treatment of primary progressive MS. All suggested treatments for PPMS are empiric. Several drugs that are more commonly used in the treatment of malignancy, cladribine and mitozantrone, appear to have some activity.

In contrast, there is definite modest benefit in some treatments for secondary progressive MS. These treatments include various regimens of steroid therapy (the anti-inflammatory effect) and the use of some drugs that modulate the immune system. Many of these drugs are more commonly used in treatment of cancer and rheumatoid arthritis such as cyclophosphamide, methotrexate and interferon.

MS should be treated by a neurologist who majors in MS with experience in managing it for years.  The doctor with knowledge is so important regarding the specific disease.  Do your research on experts treating this from NY to CA.

Remember the MS treatment is in parts to make up a whole plan:

1 Modifying the disease:

More than a dozen disease-modifying medications have been approved by the U.S. Food and Drug Administration (FDA) to treat relapsing forms of MS. These medications reduce the frequency and severity of relapses (also called attacks or exacerbations),  reduce the accumulation of lesions in the brain and spinal cord as seen on magnetic resonance imaging (MRI) and may slow the accumulation of disability for many people with MS. No medications have yet been approved to treat primary-progressive MS.

2 Treating the Exacerbations:

An exacerbation of MS is caused by inflammation in the central nervous system (CNS) that causes damage to the myelin and slows or blocks the transmission of nerve impulses. To be a true exacerbation, the attack must last at least 24 hours and be separated from a previous exacerbation by at least 30 days. However, most exacerbations last from a few days to several weeks or even months. Exacerbations can be mild or severe enough to interfere with a person’s ability to function at home and at work. Severe exacerbations are most commonly treated with high-dose corticosteroids to reduce the inflammation.

 3 Managing symptoms

In MS, damage to the myelin in the CNS and to the nerve fibers themselves interferes with the transmission of nerve signals between the brain and spinal cord and other parts of the body. This disruption of nerve signals produces the symptoms of MS, which vary depending on where the damage has occurred. MS symptoms can be effectively managed with a comprehensive treatment approach that includes medication(s) and rehabilitation strategies.

4 Promoting function through rehabilitation

Rehabilitation programs focus on function — they are designed to help you improve or maintain your ability to perform effectively and safely at home and at work. Rehabilitation professionals focus on overall fitness and energy management, while addressing problems with accessibility and mobility, speech and swallowing, and memory and other cognitive functions. Rehabilitation is an important component of comprehensive, quality healthcare for people with MS at all stages of the disease. Rehabilitation programs include cognitive and vocational rehabilitation, physical and occupational therapy, therapy for speech and swallowing problems, and more. 

5 Providing emotional support

Comprehensive care includes attention to emotional health as well as physical health. Mental health professionals provide support and education, as well as diagnose and treat the depression, anxiety and other mood changes that are so common in MS. Neuropsychologists assess and treat cognitive problems.

MS is only part of overall health for a pt diagnosed with this disease!  Comprehensive MS care is only a part — but not all — of a person’s overall health management strategies.

Like the general population, people with MS are subject to medical problems that have nothing to do with their MS — which means that regular visits with a primary care physician and age-appropriate screening tests are just as important for them as they are for everyone else. And the same goes for family members — your health and well-being are important too.

Updated 3/16/2023

“Multiple sclerosis (MS) is one of the most widespread disabling neurological conditions of young adults around the world. It affects almost 1 million people in the United States, and about 2.9 million people worldwide.

There are relapsing-remitting and progressive types of MS, but the course is rarely predictable. Researchers still don’t fully understand the cause of MS or why the rate of progression is so difficult to determine.”

Healthline (Multiple Sclerosis: Facts, Statistics, and You)

Disease course

Most people with MS have a relapsing-remitting disease course. They experience periods of new symptoms or relapses that develop over days or weeks and usually improve partially or completely. These relapses are followed by quiet periods of disease remission that can last months or even years.

Small increases in body temperature can temporarily worsen signs and symptoms of MS, but these aren’t considered disease relapses.

About 60 to 70 percent of people with relapsing-remitting MS eventually develop a steady progression of symptoms, with or without periods of remission, known as secondary-progressive MS.

The worsening of symptoms usually includes problems with mobility and gait. The rate of disease progression varies greatly among people with secondary-progressive MS.

Some people with MS experience a gradual onset and steady progression of signs and symptoms without any relapses. This is known as primary-progressive MS.

Causes

The cause of multiple sclerosis is unknown. It’s considered an autoimmune disease in which the body’s immune system attacks its own tissues. In the case of MS, this immune system malfunction destroys myelin (the fatty substance that coats and protects nerve fibers in the brain and spinal cord).

Myelin can be compared to the insulation coating on electrical wires. When the protective myelin is damaged and nerve fiber is exposed, the messages that travel along that nerve may be slowed or blocked. The nerve may also become damaged itself.

It isn’t clear why MS develops in some people and not others. A combination of genetics and environmental factors appears to be responsible.

Risk factors

These factors may increase your risk of developing multiple sclerosis:

• Age. MS can occur at any age, but most commonly affects people between the ages of 15 and 60.
• Sex. Women are about twice as likely as men are to develop MS.
• Family history. If one of your parents or siblings has had MS, you are at higher risk of developing the disease.
• Certain infections. A variety of viruses have been linked to MS, including Epstein-Barr, the virus that causes infectious mononucleosis.
• Race. White people, particularly those of Northern European descent, are at highest risk of developing MS. People of Asian, African or Native American descent have the lowest risk.
• Climate. MS is far more common in countries with temperate climates, including Canada, the northern United States, New Zealand, southeastern Australia and Europe.
• Certain autoimmune diseases. You have a slightly higher risk of developing MS if you have thyroid disease, type 1 diabetes or inflammatory bowel disease.
• Smoking. Smokers who experience an initial event of symptoms that may signal MS are more likely than nonsmokers to develop a second event that confirms relapsing-remitting MS.

Complications

People with multiple sclerosis also may develop:

• Muscle stiffness or spasms
• Paralysis, typically in the legs
• Problems with bladder, bowel or sexual function
• Mental changes, such as forgetfulness or mood swings
• Depression
• Epilepsy

“In MS, the immune system attacks the protective sheath that covers nerve fibers, known as myelin. This interrupts communication between the brain and the rest of the body. Eventually, the disease can cause permanent damage of the nerve fibers.

There’s no cure for multiple sclerosis. However, there are treatments to help speed the recovery from attacks, modify the course of the disease and manage symptoms.”

MAYO CLINIC  (Multiple sclerosis – Symptoms and causes – Mayo Clinic)

To understand Multiple Sclerosis (MS) lets understand first it attacks the nervous system at the what we call the myelin shealth.  The myelin sheath does this first the Myelin is a fatty white substance that surrounds the axon of some nerve cells, forming an electrically insulating layer. It is essential for the proper functioning of the nervous system. It is an outgrowth of a type of glial cell. The production of the myelin sheath is called myelination or myelinogenesis.  The myelin sheath is a multi-layered membrane, unique to the nervous system, that functions as an insulator to greatly increase the efficiency of axonal impulse conduction.

Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system).

In MS, the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes communication problems between your brain and the rest of your body. Eventually, the disease can cause the nerves themselves to deteriorate or become permanently damaged.

There’s no cure for multiple sclerosis. However, treatments can help speed recovery from attacks, modify the course of the disease and manage symptoms.

Multiple sclerosis signs and symptoms may differ greatly from person to person and over the course of the disease depending on the location of affected nerve fibers. They may include:

• Numbness or weakness in one or more limbs that typically occurs on one side of your body at a time, or the legs and trunk
• Partial or complete loss of vision, usually in one eye at a time, often with pain during eye movement
• Prolonged double vision
• Tingling or pain in parts of your body
• Electric-shock sensations that occur with certain neck movements, especially bending the neck forward (Lhermitte sign)
• Tremor, lack of coordination or unsteady gait
• Slurred speech
• Fatigue
• Dizziness
• Problems with bowel and bladder function

When to see a doctor

See a doctor if you experience any of the above symptoms for unknown reasons.

“Edwards syndrome, also known as trisomy 18, is a very severe genetic condition that affects how your child’s body develops and grows. Children diagnosed with trisomy 18 have a low birth weight, multiple birth defects and defining physical characteristics.

Edwards syndrome (trisomy 18) can affect anyone. The condition occurs when a person has an extra copy of chromosome 18, which is random and unpredictable. The likelihood that a parent will have a child with Edwards syndrome (trisomy 18) increases with maternal age at the time of pregnancy. If a parent had a child with Edwards syndrome (trisomy 18) and becomes pregnant again, it’s unlikely they’ll have another child diagnosed with the same condition (no more than 1%).”

Cleveland Clinic (https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome)

Trisomy 18, also known as Edwards syndrome, is a condition which is caused by a error in cell division, known as meiotic disjunction.  When this happens,  instead of the normal pair, an extra chromosome 18 results (a triple) in the developing baby and disrupts the normal pattern of development in significant ways that can be life-threatening, even before birth.  A Trisomy 18 error occurs in about 1 out of every 2500 pregnancies in the United States and 1 in 6000 live births.  The numbers of total births is much higher because it includes significant numbers of stillbirths that occur in the 2nd and 3rd trimesters of pregnancy.

Unlike Down syndrome, which also is caused by an extra chromosome, the developmental issues caused by Trisomy 18 are associated with more medical complications that are more potentially life-threatening in the early months and years of life.  Studies have shown that only 50% of babies who are carried to term will be born alive, and baby girls will have higher rates of live birth than baby boys.

What are Related Conditions?

The most common trisomy is Trisomy 21, also known as Down syndrome, where a baby has three of the twenty-first chromosome. Trisomy 18 is the second most common trisomy and occurs when a baby has three of the eighteenth chromosome. This results in 47 chromosomes instead of the normal 46 in the affected cells. It is this extra genetic material that causes the problems associated with Trisomy 18. The third most common is Trisomy 13, also known as Patau syndrome.

While there are different types of Trisomy 18, this does not mean one is better for a child than another.  With each type, there is a range of possibilities. Some children are medically fragile while others thrive; some children walk while others are confined to wheelchairs. It is hard to say how the extra chromosome will impact an individual child from the genetic diagnosis alone.

Types of Trisomy 18:

• Full Trisomy 18: The most common type of Trisomy 18 (occurring in about 95% of all cases) is full Trisomy. With full Trisomy, the extra chromosome occurs in every cell in the baby’s body. This type of trisomy is not hereditary. It is not due to anything the parents did or did not do—either before or during pregnancy. It is just an unfortunate error in nature.
• Partial Trisomy 18: Partial trisomies are very rare.  They occur when only part of an extra chromosome is present. Some partial Trisomy 18 syndromes may be caused by hereditary factors. Very rarely, a piece of chromosome 18 becomes attached to another chromosome before or after conception. Affected people have two copies of chromosome 18, plus a “partial” piece of extra material from chromosome 18.
• Mosaic Trisomy 18: Mosaic trisomy is also very rare. It occurs when the extra chromosome is present in some (but not all) of the cells of the body.  Like full Trisomy 18, mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division.The extra genetic material from the extra eighteenth chromosome can cause a wide variety of problems (sometimes referred to as birth defects) in the developing child in the mother’s womb and after birth. Just as children with Down syndrome can range from mildly to severely affected, the same is true for children with Trisomy 18. This means that there is no hard and fast rule about what Trisomy 18 will mean for a specific child. Each child has their own unique profile of how Trisomy 18 is affecting their developing body and organs. However, all studies on survival rates show that there is a high mortality rate for children with Trisomy 18 before or shortly after birth.
• Common Problems associated with Trisomy 18 can include:
• Impact of Trisomy 18 on Baby?

• Heart defects:
  • VSD (Ventricular Septal Defect): a hole between the lower chambers
  • ASD (Atrial Septal Defect): a hole between the upper chambers
  • Coarctation of the aorta: a narrowing of the exit vessel from the heart
• Kidney problems
• Part of the intestinal tract is outside the stomach (omphalocele)
• The esophagus doesn’t connect to the stomach (esophageal artesia)
• Excess amniotic fluid (polyhydramnios)
• Clenched hands
• Pocket of fluid on the brain (choroid plexus cysts)
• Rocker bottom feet
• Delayed growth
• Small jaw (mycrognathia)
• Small head (microcephaly)
• Low-set ears
• Strawberry-shaped head
• Severe developmental delays
• Umbilical or inguinal hernia

How is Trisomy 18 Diagnosed?

Most cases of Trisomy 18 are diagnosed prenatally in the United States.  Regardless of whether the diagnosis is made prenatally or postnatally (after birth) the process is the same.  A sample of the baby’s dna is extracted from a blood sample or other bodily cells or tissue and is cultured to examine a picture of the chromosomes called a karyotype.    A karyotype is simply a picture of a person’s chromosomes.  In order to get this picture, the chromosomes are isolated, stained, and examined under the microscope. Most often, this is done using the chromosomes in the white blood cells. A picture of the chromosomes is taken through the microscope.  A visible extra 18th chromosome confirms a Trisomy 18 diagnosis.

Treatment varies

Treatment will depend on what conditions the child ends up with into adulthood and how it impacts the individual in adulthood.