Health Screening

Outline

❑Definition of health
❑Definition of screening
❑Aims of screening
 What is health?

• Health is a state of complete physical, mental

and social well-being and not merely the
absence of disease or infirmity (WHO)
 What is health screening?

• Health screening is important to everyone. It

involves the use of tests, physical
examinations or other procedures to detect
disease early in people who look or feel well.
• This is different from diagnostic tests which
are done when someone is already showing
signs and/or symptoms of a disease.
 Aim of health screening

• Detect early disease before it becomes

symptomatic

• Assess risk of future medical problems

• Encourage healthy life style

 Why should I go for health screening?
• Helps to find out if you have a particular disease or
condition even if you feel perfectly well, without any
symptoms and/or signs of disease.
• Early detection, followed by treatment and good
control of the condition can result in better
outcomes, and lowers the risk of serious
complications.
• It is therefore important to get yourself screened
even if you feel perfectly healthy.
 What kind of screening tests should I go for?

There are 3 types of screening tests

Type 1
• Beneficial for everyone: These tests are listed in Table A.
Type 2
• Beneficial for some but not others: Decision to be made on
an 'individual' level, based on your individual risk factors
e.g. self or family history of hereditary or chronic diseases,
exposure to factors that can lead to disease e.g. smoking.
Type 3
• Not recommended for screening: Currently, there is not
enough information to support the use of these tests.
Table A General screening test (beneficial to
everyone)
 Additional test for women
WHO WHAT SCREENING TEST FREQUENCY

Women aged 25-69 Cervical cancer Pap smear Once every three
years, who have years
had sexual
intercourse

Women aged 50-69 Breast cancer Mammogram Once every 2 years

years

Prenatal screening e.g. Down’s Blood test, ultrasound Second trimester

of congenital / syndrome, for high risk
genetic disorder spinal bifida mothers
 General Screening Tests for Newborns
Recommended for To screen for Screening test Screening
frequency

Newborns aged 0-4 Hearing loss Audiometry Once

weeks old

Glucose-6- Screen with Once

Phosphate umbilical cord
Dehydrogenase blood
(G6PD) deficiency

Inborn Errors of Metabolic screen Once

Metabolism (IEM) withTandem Mass
Spectrometry
(TMS)

Primary Thyroid Function Once

hypothyroidism Test (TFT)
 Can screening prevent diseases?

• Screening tests are often advertised with slogans

like “prevention is better than cure.” But most of
them cannot influence whether someone will get
ill.
• Many people wrongly mistake screening for
“prevention,” and some think that having regular
screening tests can protect them from a disease.
But that is not the case: screening tests usually
cannot prevent diseases.
• Sometimes doctors also tend to be too optimistic
when it comes to the benefits of screening.
 Can screening prevent diseases?
• A screening program can only be considered to be a
“preventive” measure if it aims to determine and
influence risk factors or detect and treat abnormal
changes that could later develop into a disease.
• Example of endoscopy of the bowel, which makes it
possible to detect and remove intestinal polyps that
could later develop into cancer. So preventive treatment
can stop diseases from developing in some people.
• Regardless of whether or not you have screening tests: if
you have worrying symptoms, it is important to take
them seriously and have them checked out by a doctor.
When might it be worth having a screening
test?
• Screening should be done only for diseases with
serious consequences, so that screening tests could
potentially have clear benefits to people’s health.
• The test must be reliable enough, and not harmful in
itself.
• There must be an effective treatment for the disease
when detected at an early stage – and there has to
be scientific proof that that treatment is more
effective when started before symptoms arise.
• Neutral information should be made available to the
public, to help people decide for themselves whether
or not to have a screening test.
 Where to go for screening tests

• Private clinics
• Private hospitals
• Private medical laboratories
• Government health clinics
Why
Activity
Metric Units: BMI = Weight (kg)
(Height (m) x Height (m))

Example: Weight = 68 kg, Height = 165 cm (1.65 m)

Calculation: 68 ÷ (1.65 x 1.65) = 24.98

Formula: weight (lb) / [height (in)]2 x 703

Calculate BMI by dividing weight in pounds (lbs) by height in inches (in) squared
and multiplying by a conversion factor of 703.

Example: Weight = 150 lbs, Height = 5’5” (65″)

Calculation: 150 ÷ (65 x 65) x 703 = 24.96
To assess abdominal fat for chronic
disease risk and during weight loss
treatment.

A high waist circumference or a

greater level of abdominal fat is
associated with an increased risk
for type 2 diabetes, high
cholesterol, high blood pressure
and heart disease.
Waist circumferences(cm)

Female : risk is increased at more than

or equal to 80 cm
risk is high at more than or equal to
88 cm

Male :risk is increased at more than

or equal to 94 cm
risk is high at more than or equal to
102 cm for men
 Summary

• Screening is the testing of apparently healthy

populations to identify previously undiagnosed
diseases or people at high risk of developing a
disease.
Hereditary diseases
 Hereditary diseases
• Hereditary diseases are disorders or diseases
that are inherited genetically.
• They are also known as genetic disorders or
inherited diseases and may be passed on
within the family if there is a mutant gene
present.
 Down syndrome
• In every cell in the human body there is a
nucleus, where genetic material is stored in
genes.
• Genes carry the codes responsible for all of our
inherited traits and are grouped along rod-like
structures called chromosomes.
• Typically, the nucleus of each cell contains 23
pairs of chromosomes, half of which are inherited
from each parent.
• Down syndrome occurs when an individual has a
full or partial extra copy of chromosome 21.
 Down syndrome
• Down syndrome is a set of physical and
mental traits caused by a gene problem that
happens before birth. Children who have
Down syndrome tend to have certain
features, such as a flat face and a short neck.
They also have some degree of intellectual
disability.

• Down syndrome is caused by a problem with

a baby's chromosomes. Normally, a person
has 46 chromosomes. But most people with
Down syndrome have 47 chromosomes in the
cells.
Down syndrome
 Common symptoms of Down syndrome
Physical Symptoms
• Common physical signs of Down syndrome include1,2:
• Decreased or poor muscle tone
• Short neck, with excess skin at the back of the neck
• Flattened facial profile and nose
• Small head, ears, and mouth
• Upward slanting eyes, often with a skin fold that comes out
from the upper eyelid and covers the inner corner of the eye
• White spots on the colored part of the eye (called Brushfield
spots)
• Wide, short hands with short fingers
• A single, deep, crease across the palm of the hand
• A deep groove between the first and second toes
Intellectual and Developmental Symptoms
• Cognitive impairment, problems with thinking and learning,
is common in people with Down syndrome and usually
ranges from mild to moderate. Only rarely is Down
syndrome associated with severe cognitive impairment.

• Other common cognitive and behavioral problems may

include:

• Short attention span

• Poor judgment
• Impulsive behavior
• Slow learning
• Delayed language and speech development
Cystic fibrosis
 Cystic fibrosis
• Cystic fibrosis (CF) is an inherited disease that
affects the secretory glands, including the mucus
and sweat glands.
• Cystic fibrosis mostly affects the lungs,
pancreas, liver, intestines, sinuses, and sex
organs.
• CF is characterized by the production of abnormal
mucus that is excessively thick and sticky.
• The abnormal mucus leads to blockages within
the lungs and airways.
• This leads to repeated, serious lung infections
that can damage the lungs.
 Cystic fibrosis
• Lung function often starts to decline in early
childhood in people who have cystic fibrosis.
Over time, permanent damage to the lungs can
cause severe breathing problems.
• The thick, sticky mucus also can block tubes, or
ducts, in the pancreas.
• As a result, the digestive enzymes from the
pancreas can't reach the small intestine, causing
impaired absorption of fats and proteins.
• This can cause vitamin deficiency and
malnutrition.
Cystic fibrosis
Cystic fibrosis
Siblings with cystic fibrosis
 Cystic fibrosis
• Respiratory signs and symptoms
• The thick and sticky mucus associated with cystic
fibrosis clogs the tubes that carry air in and out of your
lungs. This can cause signs and symptoms such as:
• A persistent cough that produces thick mucus (sputum)
• Wheezing
• Breathlessness
• Exercise intolerance
• Repeated lung infections
• Inflamed nasal passages or a stuffy nose
 Cystic Fibrosis
• Digestive signs and symptoms
• The thick mucus can also block tubes that carry
digestive enzymes from your pancreas to your
small intestine. Without these digestive enzymes,
your intestines aren't able to completely absorb
the nutrients in the food you eat.
• The result is often:
• Foul-smelling, greasy stools
• Poor weight gain and growth
• Intestinal blockage, particularly in newborns
(meconium ileus)
• Severe constipation
 Diagnosis
To diagnose cystic fibrosis, doctors may conduct several
tests.
• Newborn screening and diagnosis:
• a blood sample is checked for higher than normal
levels of a chemical (immunoreactive trypsinogen, or
IRT) released by the pancreas.
• Doctors may also conduct genetic tests to test for
specific defects on the gene responsible for cystic
fibrosis.
• Testing of older children and adults may be
recommended for older children and adults who
weren't screened at birth.
WHAT IS THALASSEMIA (VIDEO)
 Thalassemia
• Thalassemia is an inherited blood disorder in
which the body makes an abnormal form of
hemoglobin.
• If both of parents are carriers of thalassemia,
the child have a greater chance of inheriting a
more serious form of the disease.
 Thalassemia
• Hemoglobin is the protein molecule in red
blood cells that carries oxygen.
• The disorder results in excessive destruction
of red blood cells, which leads to anemia.
• Anemia is a condition in which your body
doesn’t have enough normal, healthy red
blood cells.
 Thalassemia

• Person with thalassemia major requires

regular blood transfusions every four-to-six
weeks to top-up hemoglobin in the body.
 Types of Thalassemia
• 1. Alpha Thalassemia disease:
• There are two main types of Alpha Thalassemia
disease.
• Alpha Thalassemia Major is a very serious
disease in which severe anemia begins even
before birth.
• Pregnant women carrying affected fetuses are
themselves at risk for serious pregnancy and
delivery complications.
• Another type of Alpha Thalassemia is
Hemoglobin H disease. There are varying degrees
of Hemoglobin H disease.
 Types of Thalassemia
• 2. Beta Thalassemia disease: Beta Thalassemia
Major (also called Cooley's Anemia) is a
serious illness.
• Symptoms appear in the first two years of life
and include paleness of the skin, poor
appetite, irritability, and failure to grow.
Proper treatment includes routine blood
transfusions and other therapies.
 Symptoms of Thalassemia
• The symptoms of thalassemia can vary. Some of the
most common ones include:

• bone deformities, especially in the face

• dark urine
• delayed growth and development
• excessive tiredness and fatigue
• yellow or pale skin
• Not everyone has visible symptoms of thalassemia.
Signs of the disorder also tend to show up later in
childhood or adolescence.
 How is thalassemia diagnosed?
• Thalassaemia is often detected during pregnancy or
soon after birth.
• Screening during pregnancy: Screening to check if a
baby is at risk of being born with thalassemia is
offered to all pregnant women.
• Testing after birth or later in life: Newborn babies
aren't routinely tested for thalassemia because the
test used isn't always reliable soon after birth and
the condition isn't immediately dangerous.
• Testing for the Thalassemia Trait- A blood test can be
done at any time to find out if you have the
thalassemia trait and are at risk of having a child with
the condition.