Prevention Of Genetic Disease

Question 1

How many levels of prevention

Answer 1

3
Primary prevention
Secondary prevention
Tertiary prevention

Question 2

Primary prevention

Answer 2

Methods to avoid occurrence of disease either through
eliminating disease agents or increasing resistance to
disease.
Examplesinclude immunization against disease, maintaining
a healthy diet and exercise regimen, and avoiding smoking

Question 3

Secondary prevention

Answer 3

Methods to detect and address an existing disease prior to
the appearance of symptoms.
Examples include treatment of hypertension (a risk factor for
many cardiovascular diseases), cancer screenings.

Question 4

Tertiary prevention

Answer 4

Methods to reduce negative impact of symptomatic disease,
such as disability or death, through rehabilitation and
treatment.
Examplesinclude surgical procedures that halt the spread or
progression of disease

Question 5

Methods of Prenatal diagnosis:

how can we detect the abnormalities during the pregnancy?

Answer 5

Ultrasonography (with 3D and transvaginal US)
• Amniocentesis
• Chorionic villous sampling (CVS)
• Cordocentesis (umbilical cord)
• Fetoscopy
• Foetal cells in maternal circulation
• Radiography

Question 6

There are three purposes of prenatal diagnosis:

Answer 6

to enable timely medical or surgical treatment of a
condition before or after birth
(2) to give the parents the chance to abort a fetus with
the diagnosed condition
(3) to give parents the chance to “prepare”
psychologically, socially, financially, and medically for a
baby with a health problem or disability, or for the
likelihood of stillbirth or abortion.

Question 7

Biomarkers

Answer 7

They are biochemical substances that are altered in different fetal abnormalities

Chemical substances that can be changed when detected fetal abnormalities

Question 8

Biomarkers they can be measured in

Answer 8

1- amniotic fluid (for better result )
2- maternal serum (safer but less sensitive)

Question 9

Biomarkers

Answer 9

Alpha fetoprotein
Beta-HCG
UNconjugated estriol uE3
Inhibin A

HCG HUMAN CHORIONIC GONADOTROPIN

Question 10

Causes of raised maternal serum AFP LEVEL

Answer 10

Anencephaly
Open spina bifida
Incorrect gestational age
Intrauterine fetal bleeding
Threatened miscarriage
Multiple pregnancy
Congenital nephrotic syndrome
Abdominal wall defect