Chromosome Analysis, Amniotic Fluid Tips

Down syndrome is a genetic disorder that develops when an error or abnormality in the cell divisions leads to an extra copy of Chromosome 21. The condition affects a person s physical growth and cognitive abilities, causing moderate to mild developmental issues. Many of the developmental disabilities last for a lifetime and possibly reduce life expectancy.

One out of every 700 pregnancies results in the birth of a child with Down syndrome. Children born with this condition have distinctive features small head, short neck, flattened face, protruding tongue, and upward slanting eyelids.

Most often, Down syndrome is not inherited it is rather caused by an error in the cell division during the early development of the foetus. Some parents are at a higher risk of having a child with this genetic disorder. The risk factors include

Old-age pregnancy The chances of having a baby with Down syndrome increase as you grow older. This is because the more you age, the more risk the eggs have of improper chromosome division. Studies show that the risk of conceiving a baby with this condition goes up after age 35. Nevertheless, most children with genetic syndrome are born to people below 35 years of age since younger mothers are likely to give birth to more babies.

Genetic predisposition to Translocation Down syndrome Both women and men may pass the genetic translocation for the condition on to their kids.

Having had a baby with Down syndrome Parents, who themselves have a translocation or have had a baby with Down syndrome, have a greater risk of giving birth to a second child with the genetic condition.

How to prevent Down syndrome?

Down syndrome cannot be prevented. However, parents can take certain steps to lower the risk of having a child with this condition. Here are some steps to follow

Plan an early pregnancy If you wish your baby to be born healthy, it is best to start planning ahead of conception. In the majority of cases, birth defects happen during the initial 3 months of pregnancy, when the organs of the foetus are developing. Being ready from the beginning of the process can improve the chances of your baby s good health.

Avoid toxic substances Exposure to harmful substances, such as alcohol, tobacco, drugs, as well as substances found in the workplace, home, or environment may have severe consequences on the unborn child during pregnancy. These may also affect the mother s health and ability to give birth. The best way to avoid risks is to stave off toxic substances. For example quitting smoking can improve the likelihood of a mother giving birth to a healthy baby and avoiding certain birth defects, such as Down syndrome.

Turn to a healthy lifestyle The health of the mother during pregnancy directly affects the health of the unborn child. There are several things, which you can do to keep yourself and your baby in the best of health during this time and lower the risk of birth defects in the baby. The key to opting for a healthy lifestyle starts with regular exercising, maintaining ideal body weight, and following a healthy diet that mainly includes vegetables, fruits, whole grains, healthy fats, lean proteins, and low-fat dairy.

Even if you cannot prevent Down syndrome, you can certainly ensure that your child is at the minimal risk of being born with the genetic disorder by following the above precautionary measures.

Most importantly, consult and discuss with your doctor about planning your pregnancy while you are still in your late 20s or early 30s, as well as about avoiding toxic substances, and opting for a healthy lifestyle.

21st March is observed as World Down Syndrome Day annually all across the globe. The day marks the importance of raising awareness about the genetic disorder, Down syndrome, among the public. The General Assembly summons all organizations and the Member States of the United Nations, as well as NGOs to celebrate World Down Syndrome Day in a proper manner.

The prevailing low expectations, negative attitudes, exclusion and discrimination ensure that those born with Down syndrome fall behind and lack opportunities to take part fully in decision making about all matters in life. This happens in society, as also within the Down syndrome community and disability community.

At the root of this exclusion and discrimination is a lack of knowledge of the challenges people face throughout their lifetimes and the failure to back them with the tools and opportunities required to participate in a meaningful way.

The 2020 theme of World Down Syndrome Day focuses on We Decide everyone with Down syndrome should have complete participation in decision making regarding the matters affecting, or relating to their lives. Meaningful and effective participation is the basic human rights principle backed by the UN Convention on the Rights of Persons with Disabilities.

As we strive to make people at large wary of Down syndrome, let us know some more about the disorder.

What is Down syndrome?

Down syndrome occurs when a child is born with an extra copy of the 21st chromosome. This is a genetic condition, which alters the course of normal development of the child, causing developmental delays and affecting their cognitive abilities.

Characteristics of Down syndrome

Children born with Down syndrome share some common distinctive physical characteristics.

Upward slanting eyelids

Short neck and small stature

Flat nose

A protruding tongue

A wide gap between the second and large toe

These people also have moderate to mild intellectual disability, for instance learning disabilities, or delay in fine motor skills.

Unfortunately, Down syndrome cannot be cured or prevented. However, leading a healthy lifestyle during pregnancy can help reduce the risk of having a baby with a chromosomal condition.

Screening and Diagnosis

Early diagnosis and screening are recommended for people at an increased risk of giving birth to a child with Down syndrome. Screening tests can evaluate the propensity of the disease being present. A few diagnostic tests can also reveal if the child will be born with Down syndrome.

Women aged between 30 and 35 years, or above, may receive genetic testing during pregnancy since the likelihood of having a baby with the disorder increases with age.

Living with Down syndrome

An encouraging home environment, premium educational programs, support from family, friends, and community, and good healthcare can help people with Down syndrome lead productive and fulfilling lives.

Down Syndrome refers to a genetic condition, where a person is born with an extra copy of a chromosome. Usually, a child is born with 23 pairs of chromosomes but those with Down syndrome are born with an additional copy of one of the chromosomes Chromosome 21. The genetic disorder causes mental and physical disabilities and developmental delays in the child. Here we check out some tests and methods to diagnose down syndrome problems.

Types of Down Syndrome
Trisomy 21 This is the most common of all three types, with an extra copy of the 21st chromosome in each cell
Mosaicism This happens when the baby is born with an additional chromosome is some but not all the cells
Translocation This occurs when a child is born only with one extra part of the 21st chromosome
Some parents are more likely to have a child with Down syndrome. As per the Centres for Disease Control and Prevention, pregnant women above age 35 have a higher chance of having a child with this genetic disorder, as compared to those in their late 20s or early 30s. The chances of giving birth to a child with Down syndrome rise as the mother ages. Screening during pregnancy can help you understand if your child is likely to have Down syndrome or not.

Screening of Down Syndrome During Pregnancy
Screening for Down syndrome could be a part of your routine prenatal care. If the mother is over 35 years, the father is over 40 years, or if there is a family history of Down syndrome, then you should go for an evaluation.

First trimester Blood tests and ultrasound can check for the down syndrome in your foetus. These tests have a greater positive-false rate than tests performed at later stages of pregnancy. If the results are not normal, the doctor will most likely follow up with an amniocentesis after the 15th week of pregnancy.
Second trimester A QMS test and ultrasound can help recognize Down syndrome, as well as other abnormalities or defects in the spinal cord and brain. The test is performed between 15 and 20 weeks of pregnancy. If the test results show some abnormality, you could be at high risk for birth defects.
Additional Prenatal Test for Down Syndrome
The doctor may recommend a few additional tests to diagnose Down syndrome in the child. These may include

Amniocentesis The test, typically performed after 15 weeks of pregnancy, involves taking a sample of the amniotic fluid to check for the number of chromosomes the baby has.

CVS (Chorionic villus sampling) The doctor takes cells from the placenta to evaluate foetal chromosomes. The test is conducted between week 9 and week 14 of pregnancy.

PUBS (Percutaneous umbilical blood sampling) For this, the doctor draws blood from the umbilical cord to check for any chromosomal defects. The test is conducted after week 18 of pregnancy.

However, some women hesitate to undergo these tests due to an increased risk of miscarriage.

Tests to Diagnose Down Syndrome at Birth

The doctor will most likely perform the following at birth

A thorough physical examination of the child

A certain type of blood test, known as Karyotype, to confirm the diagnosis

Although Down syndrome cannot be cured or prevented, the risks of having a child with this genetic disorder can be reduced with some lifestyle changes. Nevertheless, if you are giving birth to a child with Down syndrome, you will need to work closely with a medical professional to understand the unique challenges of the condition.

A genetic disorder, Down s Syndrome is caused due to extra genetic material during cell division. It is the faulty arrangement of chromosomes which results in the Down s Syndrome. It approximately affects one in 800 births around the world, across a wide spectrum of race, gender, region, and socio-economy. Since it is a naturally occurring condition whose underlying cause cannot be controlled or regulated, there is nothing one can do to undo this condition. Instead, people with Down s Syndrome, because they are generally socially and intellectually underdeveloped, are equipped with learnings and interventions related to life-skills from very early in life and striving towards making them independent. Various therapies can be incorporated for improving the overall quality of life of the people born with Down s Syndrome.

Occupational Therapy and Down s Syndrome -

Development of motor skills is delayed in the children born with Down s Syndrome. This is due to their certain physical characteristics like low muscle tone (hypotonia), loose ligaments or ligamentous laxity making the joints extra flexible, and decreased strength.

The aim of the Occupational Therapy for children born with Down s Syndrome is to facilitate or enable the development of movement patterns optimally, as against accelerating the rate of development which is a general assumption. It helps in achieving developmental milestones in an efficient manner. Occupational Therapy hence helps children in developing a good or correct posture, aligning their foot properly for proper balance and movement, improving their walking pattern, and helping them generally through developing fine and gross motor skills for carrying out daily activities.

Moreover, Occupational Therapy helps in teaching self-care skills like getting dressed, eating, toileting writing, using a computer, etc. For teenagers, Occupational Therapy helps in identifying suitable skills, careers, jobs, and vocations to match with strengths, capabilities, and interests. Sensory integration activities help in teaching the child to produce an appropriate response to any situation, and in developing attention and concentration.

Occupational Therapy Assessment -

Children with Down s Syndrome have delayed gross and fine motor skills, and lack basic cognitive and communication skills among many other issues they face due to their condition. Occupational Therapy addresses all these shortcomings of development for comprehensive management of the disease.

Occupational Therapy checks the sensorimotor components like muscular tone, strength, endurance, coordination, balance, range of motion, hand function, and posture. It also checks the perceptual and cognitive components like memory, attention, figure-ground, and directionality. For checking social skills, areas like peer relationship, verbal and non- verbal communication, and group interaction are assessed.

According to the assessment results, intervention strategies and fun activities are devised for the child to promote optimal function of motor senses.

Take Away -

Down s Syndrome cannot be cured but can be managed through methods like Occupational Therapy which helps in teaching basic life skills for making the patients confident and independent to face the world on their own.

Down syndrome is a chromosomal disorder that is caused by the presence of an extra chromosome. A genetic condition, it causes physical and cognitive impairments and can lead to disabilities and increase the risk of a number of health problems.

Causes:

Each cell in our body contains 23 pairs of chromosomes where one chromosome in the pair comes from the mother and the other comes from the father. But in the individuals with Down syndrome, the chromosome 21 has an extra copy. This means that there are three copies instead of the usual two. The reasons behind this genetic abnormality remains unknown as of yet, but there are a few risk factors that might increase the chances of the condition.

Women who are older than 35 years of age have a higher risk of their children being born with Down syndrome.
If a woman has a child with Down syndrome, then chances are that the next child might be born with the condition as well.
Though uncommon, Down syndrome has been seen to have been passed from parent to child.
Symptoms:

Children born with Down syndrome exhibit certain characteristic symptoms which include flattened facial features, a short neck and eyes that slant upwards. Ears that are atypically shaped and muscles that lack tone are also symptoms of Down syndrome. Physical growth and development of the child are also hindered by the condition. A child with Down syndrome might also display social and mental disabilities that include a short span for attention, a lack of judgment and issues with impulse control.

Complications:

Down syndrome can lead to a number of medical complications that include but are not limited to visual impairment, leukemia, chronic constipation, dementia, hypothyroidism and Alzheimer s disease in the later stages of life.

Homeopathic Treatments:

Homeopathic treatment methods of Down syndrome focus on the development and improvement of the behavioral and cognitive abilities of a child with Down syndrome. The treatment that is usually prescribed includes homeopathic medicines and bio-neural supplements that help remedy the disorder. These also reduce the effects that the condition might exert on the physical growth and intellectual development of the child.

A child with Down syndrome might find it difficult to communicate and recognize objects and people. Homeopathic treatment can help remedy these shortcomings. Homeopathic treatment for Down syndrome should be initiated at the earliest possible in order to help the child with behavioral and physical development.

Alzheimer s disease is a neurological, irreversible, progressive brain disorder. It is a chronic neurodegenerative dementia that causes the death of brain cells, causing memory loss and cognitive decline. It affects a person s thinking and behavior. The symptoms develop slowly and get worse as time passes.

Causes:
As it is a kind of dementia, Alzheimer s is caused by the death of brain cells. Over a course of time, brain cells die progressively and at the end, the tissue is left with fewer nerve cells and connections. As a result, the total brain size shrinks. Tiny inclusions called plaques and tangles can be seen in the postmortem. These cannot be seen or tested in a living Alzheimer s affected brain. These plaques are given the name amyloid plaques because they are found among the dying cells of the brain when a protein called beta-amyloid builds. The tangles stay in the neurons; they are formed from a protein called tau.

There are several reasons behind all this, some of which are listed below-

Anti-anxiety medications
Hitting on the head too many times
Regularly sleep-deprived
Loneliness
Diabetes in the brain
Old age
Genetic line
Down s syndrome
Cardiovascular diseases
Symptoms:
Alzheimer s disease damages the brain, so the clinical signs and symptoms begin to show very early. The symptoms are-

Memory loss
Agitation and mood swings
Poor judgment
The trouble with money calculations
Difficulty doing familiar tasks
Trouble in planning or solving a problem
Confusion with time and place
Difficulty in communicating
Loss of motivation
Inappropriate behavior
Aggressive personality
Childlike behavior
Preventing Alzheimer s disease:
Alzheimer s disease ultimately results in death. Even if there are treatments, they cannot fully cure it. So it s better to try to prevent it before it happens. Ways to prevent Alzheimer s disease are-

Eating more fruits and vegetables.
Eating berries every day.
Increasing omega-3 fatty acids.
Taking folic acid supplements.
Drinking grape juice or red wine with evening meal.
Doing the Mediterranean style diet.
Controlling the blood pressure.
Having strong social support.
Treatment of Alzheimer s disease:

Treatment of Alzheimer s disease is a long time process.
First of all, doctors perform a physical exam to check the overall neurological health. By this, they check muscle strength, reflexes, walking ability, sense of sight and hearing, coordination and balance.
Then comes the blood test to find the cause of confusion and memory loss by checking the thyroid disorder and vitamin deficiency.
Then they perform the neuropsychological test and check the mental status.
Then there are other tests, like MRI, CT, and PET.
After all this, drugs are given and a safe and supportive environment is created with proper exercise and nutrition.
Alzheimer s disease is undoubtedly the worst kind of disease. Hence, it is highly recommended to contact a doctor as soon as any symptom is noticed.

Hyperdontia is an oral condition where people may have an overcrowding of teeth in their mouths due to the growth of extra teeth which are known as supernumerary teeth, in dental terms. This problem may hit people of any gender, background and medical history. This is caused when an extra tooth bud is found in the tissue from which the teeth typically grow. The most common cases are those that affect children who are already suffering from Down's Syndrome.

This article will tell you all about coping with and correcting the issue:

Problems Experienced: Let us first understand the various problems that a patient may experience. To begin with, there may difficulty when it comes to eating and chewing as too many teeth will make this task cumbersome. Also, this condition may prevent the normal teeth eruption process. Further, these teeth may fuse with the permanent teeth in the mouth of the patient. And finally, all this can also lead to the formation of a cyst or tumour.
Check Ups and Diagnosis: In order to treat this problem, the dentist will first of all conduct a thorough check up of the mouth of the patient and try to find the exact cause of the ailment. This will also be done with the help of lab tests based on blood samples as well as a dental X-ray. Further, the most important thing that the dentist will try to check is whether or not the supernumerary teeth are affecting the growth of the permanent teeth, in any way.
Tooth Extraction: Once the dentist has had a look at the problem, he or she will be in a better position to take a call regarding whether or not the supernumerary teeth need to be removed. In most cases, these teeth will not be removed unless the said tooth is loose, which in turn can present the risk of choking by passing into the lungs. If tooth extraction has been decided upon, then the orthodontist or the dentist will do so by administering local anaesthesia first. Depending on the severity of the condition, the tooth may have to be cut and removed in pieces while the doctor has to ensure that there is enough space left for the permanent teeth to grow and find a place for themselves.
Alignment: After the process of extraction is done, the dentist has to ensure that there is proper alignment of the teeth with the help of proper orthodontic methods for the remaining teeth to grow in a proper manner. Endodontic treatment will be used for fused treat in order to work on the tooth pulp and tissue in the surrounding area.

Chromosomal abnormality happens when a cell has too many or too few chromosomes. The most common form of chromosomal anomaly is Down s syndrome. If a parent has a chromosomal anomaly, she/he will pass it on to the child. PGD or Pre-implantation Genetic Testing aims to select only the embryos with normal chromosomal count and only these embryos are implanted to achieve a healthy pregnancy and bring down the number of children affected with a chromosomal anomaly.

The risk of Aneuploid pregnancy:

The older a woman is when she tries to conceive (aged 35 or more), the higher the risk of Aneuploid pregnancy (carrying a baby with genetic or chromosomal abnormality). Most of these pregnancies end in miscarriages and the few that come to term produce babies with chromosomal abnormalities.

Causes of Chromosomal Abnormality:

Usually, chromosomal abnormalities occur due to an error in the cell division. Meiosis refers to the cell division, which the sperm and the egg undergo during the development procedure. Normally, meiosis breaks the chromosomal material into two equal halves, so that each of the parents contributes 23 chromosomes to the pregnancy. However, when the number of chromosomes in the cell goes up or down than the normal, it results in genetic/chromosomal anomalies.

PGD Procedure for a Chromosomal Anomaly:

If a couple elects to go for Pre-implantation Genetic Diagnosis, they have to undergo ICSI Cycle. ICSI cycle initiates a fertilization cycle to produce embryos. When the embryos reach upto day 5 and blastocyst are formed, they are biopsied and further sent to genetic lab for detecting the chromosomal abnormalities. The embryos are incubated for the entire duration of the genetic screening. Only the embryos that the genetic test clears are implanted. PGD never reveals the gender of the embryo.

PGD can help detect the single genetic disorders that may lead to the following ailments:

Cystic fibrosis
Muscular dystrophy
Tay-Sachs
Sickle cell anaemia
Thalassemia
Turner syndrome

PGD is a revolutionary science that can help root out incurable disorders linked to genetics. It ensures that pregnancy is sustained until term and a healthy baby is born.

Testicular cancer is mostly witnessed among young adults in the age range of 24 35. It results from the growth of abnormal cells in the testes. It is not the most common type of cancer found in the body, but can pose a serious threat to an individual if not treated early. The cure rate is one of the highest among all kinds of cancer found in the body. This being said, the rate of cure is totally dependent on the stage of detection.

Risk Factors for Testicular Cancer
The historical trend of testicular cancer suggests that white men are prone to this type of cancer than their African, Asian and Latino counterparts. A person with a family history of testicular cancer of HIV is at higher risk of getting this disease. Some other risk factors include Klinefelter s syndrome and cryptorchidism.

Protection from Testicular Cancer
There is no hard and fast rule of protection. It is suggested that the testicles get evaluated while routine medical check-up. A person with a family history of testicular cancer should opt for a periodic checkup after every three months. In case a patient has already recovered from testicular cancer, routine medical tests are a must to ensure non-recurrence.

Symptoms of Testicular Cancer
The common symptom is a swelling in the testicle. It feels like a thickening of the testicle and is mostly painless. Minor discomfort in the swelling region is often reported. Some other symptoms include back pain, ache in the scrotum and groin, change in the size of the testicle, bloating of the lower abdomen and heavy sensation of the scrotum. There is a rare form of this cancer, which produces a female hormone called estrogen in a man s body. This disease results in a lack of sexual desire, lump in the affected area, etc. Even less serious testicular cancer might show these symptoms. An oncologist should be immediately consulted if one or more of these symptoms surfaces.

What are the treatment options?
Testicular cancer is mostly cured with the help of a surgery. A follow-up radiation and chemotherapy is suggested by doctors to destroy the surrounding cells. It is done to ensure that the cancer cells do not spread easily and the chance of recurrence is minimal. The rate of cure depends on early detection.

Does testicular cancer affect sexuality?
In most of the cases, testicular cancer is detected in one testicle. If this is the case, the other testicle produces all the hormones needed for sexual drive. It also does not affect sex drive, beard and muscularity. There is also a large section of patients who reported of a difficult sexual life after the surgery. There can be some discomfort in the scrotum as well.

Former Union Defence Minister and an epitome in Indian politics, George Fernandes, passed away on Tuesday morning owing to a prolonged illness, confirmed his family members.

He was 88 and suffering from Alzheimer's disease, a neurological, irreversible, progressive brain disorder, since long. Recently, he contracted swine flu, which is quite prevalent across the country these days. Fernandes, an anti-Emergency crusader and an arch-enemy of Indira Gandhi, had been bedridden for the past few years.

Here we will be discussing about Alzheimer's and Swine flu to help you stay away from the complications of these diseases.

Alzheimer's Disease:

It is a chronic neurodegenerative dementia that leads to death of brain cells, triggering memory loss and cognitive decline. It affects the patient's thinking and behaviour. The symptoms develop slowly & worsen with time.

Causes of Alzheimer's Disease:

Being a kind of dementia, brain cells die progressively and eventually, the tissue is left with fewer nerve cells and connections.

As a result, the brain size starts shrinking. Tiny inclusions known as plaques and tangles cannot be seen in a living Alzheimer's affected brain but they are visible in the postmortem.

These plaques are known as 'amyloid plaques' as they are found among the dying cells of the brain when a protein called beta-amyloid builds. The tangles stay in the neurons and are formed from a protein called tau.

There are many reasons behind this problem. Some of those are mentioned below:

Anti-anxiety medications
Hitting on the head too many times
Regularly sleep-deprived
Loneliness
Diabetes
Old age
Genetics
Down's syndrome
Cardiovascular diseases
Symptoms of Alzheimer's Disease:

As Alzheimer's damages the brain, hence, the clinical signs start showing up very early. The symptoms include:

Memory loss
Agitation and mood swings
Poor judgment
The trouble with money calculations
Difficulty doing familiar tasks
Trouble in planning or solving a problem
Confusion with time and place
Difficulty in communicating
Loss of motivation
Inappropriate behaviour
Aggressive personality
Childlike behaviour
Prevention of Alzheimer's Disease:

The medical science has evolved a lot over the years but still, there is no permanent cure for Alzheimer s disease. It ultimately results in death. Hence, it is better to try and prevent it before developing. Discussed below are the preventive measures for Alzheimer s disease:

Eating more fruits and vegetables
Eating berries every day
Increasing Omega-3 fatty acids
Taking folic acid supplements
Having grape juice or red wine with evening food
Doing the Mediterranean style diet
Controlling the blood pressure
Having strong social support
In most of the cases, the treatment only keeps the condition of the patient under control as there is no treatment which can completely reverse Alzheimer's Disease. Hence, prevention is the best way possible to keep this deadly ailment at bay.

George Fernandes had recently contracted Swine Flu and the disease only worsened his condition. Here is everything you should know to stay safe:

Swine Flu:

Swine flu, or H1N1 infection, is a respiratory disease which is caused by influenza viruses that infect the respiratory tract of pigs and eventually result in a barking cough, nasal secretions, decreased appetite and listless behaviour. It gets transmitted to humans swiftly and takes shape of a pandemic.

How does it prevail?

It spreads in a very similar manner as seasonal flu. People release tiny drops of virus into the air while sneezing or coughing. Whenever any person comes in contact with these viruses, he/she also gets infected by it. It can also spread by using or touching the things used by the infected person.

H1N1 Symptoms:

The symptoms of this disease are also very similar to the seasonal flu. They include:

Cough
Fever
Sore throat
Body aches
Headache
Running nose
Fatigue
Chills
Breath shortness
Frequent vomiting
Dizziness
Pain in the belly region
Swine flu can potentially lead to more serious complications such as pneumonia, lung infection and other breathing problems. In diabetes and asthma patients, it can make the situation even worst.

Can vaccination keep swine flu at bay?

The flu vaccine which keeps away seasonal flu also protects against N1H1 infection.

How to prevent H1N1 infection?

Apart from vaccinations, there are some other ways also to keep yourself healthy:

Wash your hands with soap and water
Use alcohol-based hand-sanitizer
Do not touch your eyes, mouth or nose
Try to maintain a safe distance from infected people
Prevention is always better than cure! At the time when the pandemic is quickly spreading across the country, people should be more cautious about their health. If you also have the symptoms of the disease, you should immediately visit a doctor to diagnose it and start with the treatment.