CONGENITAL AND HEREDITARY

DISEASES
CONGENITAL DISEASE
definition
A Congenital disorder is a structural or functional
anomaly that occur during intrauterine life. Its Also
called; a birth defect, congenital anomaly or
congenital malformation
this condition develop prenatally and may be
identified before or at birth, or later in life.
•It’s natural to be concerned about congenital
disorders if you’re pregnant or planning a
pregnancy, especially if your family has a
history of a particular disorder. It’s possible to
test for some, but not all disorders during
pregnancy, and there are also things you can do
to reduce the chances of your baby being born
with a congenital disorder.
 SOME COMMON CONGENITAL DISORDERS ARE:

• cleft lip and cleft palate — usually diagnosed during routine scans in pregnancy
• congenital heart disease ­— including a hole in the heart, a valve problem or a
problem with the blood vessels. These are usually diagnosed during routine scans
in pregnancy or during newborn screening.
• cerebral palsy — usually diagnosed in the first few years of life
• Fragile X syndrome — may be diagnosed through genetic testing during
pregnancy or in the first few years of life
• Down syndrome (Trisomy 21) — usually diagnosed through genetic during
pregnancy
• spina bifida — usually diagnosed during routine scans in pregnancy
• cystic fibrosis — usually diagnosed during newborn screening
 What tests for congenital disorders are available in
pregnancy?
• Testing for some congenital disorders, such as Down syndrome, can be
performed using a blood test from 10 weeks of pregnancy onwards. Screening
tests are designed to identify babies who may be at increased risk of a
congenital disorder. If a screening test does not rule out a congenital disorder,
the next step is to have a diagnostic test. Diagnostic tests, such as
ultrasound scans, blood tests and sometimes urine tests, aim to identify babies
who have a congenital disorder and to find out what that disorder is.
cont
• Chorionic villus sampling (CVS)
• Chorionic villus sampling, or CVS, is usually performed between 10 and 13 weeks of
pregnancy if screening tests show your baby may have a congenital disorder. CVS can be
used to diagnose babies with Down syndrome or other genetic conditions. You would be
given a local anaesthetic and a doctor would use a needle to collect a small sample of cells
from your placenta, which is then sent for testing.
• Amniocentesis
• This test is done after 15 weeks of pregnancy and may be done instead of, or as well as
CVS. It can provide a definite answer as to whether your baby has Down syndrome or
another congenital disorder.
• Amniocentesis involves taking a small amount of fluid from around your baby, using a
needle and after a local anaesthetic, which is then sent for testing.
• There is a very small risk of miscarriage with both CVS and amniocentesis.
cont
• Other things you can do to try to prevent congenital disorders include:
• eating a healthy diet with enough vitamins and minerals, in particular
folic acid, during the reproductive years
• taking folic acid supplements before you become pregnant and for the first
trimester of pregnancy
• avoiding alcohol, smoking and other drugs because these can harm the fetus
• controlling diabetes and gestational diabetes
• avoiding exposure to chemicals in your environment, such as pesticides or
lead
• being vaccinated, especially against rubella
cont
• Newborn testing and assessment
• A paediatrician and other health professionals examine your baby in
the first few days of life to check for hearing problems, heart
conditions, and blood, metabolism and hormone disorders. This is
called newborn screening. Early detection of such problems can often
prevent them from becoming more serious physical, intellectual,
visual or hearing disabilities.
• Sources:
 HEREDITARY DISEASES
definition
• It is a disease or disorder that is inherited genetically.
Hereditary Diseases are passed on from one generation
to another through defective genes. These diseases are
transmitted in the same family.They are caused by
mutations or changes in certain genes or
chromosomes
they are passed from parent to child.
 KEY NOTE
• A hereditary disease is often described as something that “runs
in the family.” It is passed down from one or both parents to a
child, who may then pass it to his or her children. Because
hereditary diseases are caused by genetic mutations, you may
see the terms “hereditary” and “genetic” used interchangeably
when referring to inherited disease. But while a genetic
disease is also the result of a gene mutation, it may or may not
be hereditary. These mutations occur either randomly or due
to an environmental factor. They are not passed down from
parent to child, as is the case with a hereditary disease.
 Common Hereditary Diseases
• Sickle Cell Disease
Sickle cell disease is a hereditary disease caused by mutations in one of
the genes that encode the hemoglobin protein. Red blood cells with the
abnormal hemoglobin protein take on a sickle shape. The disease leads
to chronic anemia and significant damage to the heart, lungs and
kidneys. Sickle cell disease is the most common inherited blood disorder
in Western region in kenya.There is a 25% chance that a child will be
born with sickle cell disease if both parents have the defective gene. If a
child inherits only one copy of the defective gene (from either parent),
typically he or she won’t get the disease, but there is a 50% chance that
the child will carry the sickle cell trait.
Sickle cells photos
Sickle cells
 Muscular Dystrophy
• In muscular dystrophy, defective genes interfere with the
production of proteins necessary for healthy muscle
development. Such symptoms as progressive muscle weakness
and loss of muscle mass often begin in childhood, though the
disease can affect all ages, and all races. There are several types
of muscular dystrophy, but the most common form, Duchenne,
usually occurs in young boys. Most forms are inherited, so
people with a family history of the disease are at a higher risk
of developing it.
Muscular Dystrophy
 Cystic Fibrosis
• Cystic fibrosis (CF) is caused by a gene mutation that affects the
cells that produce mucus, sweat, and digestive juices. The
mucus becomes thick and sticky, causing severe damage to the
respiratory, digestive and reproductive systems. Children who
inherit only one copy of the defective gene are carriers who
could pass the gene on to their own children. But children who
inherit two copies of the defective gene—one copy from each
parent—will develop cystic fibrosis. The disease is most
common in white people of Northern European ancestry.
Cystic Fibrosis
 Tay-Sachs
Tay-Sachs disease (TSD) is a fatal genetic disorder that results in
progressive destruction of the nervous system. It is caused by gene
defects that lead to the absence of a vital enzyme called
hexosaminidase-A (Hex-A). Carriers of the defective gene have a 50%
chance of passing the gene to their children. If a child inherits one
defective gene, the child is a Tay-Sachs carrier. If the child receives a
defective gene from both parents, the child will have the disease. The
incidence of Tay-Sachs is significantly higher among people of eastern
European (Ashkenazi) Jewish descent.
 Hemophilia
• Most common among males, hemophilia is characterized by a deficiency
in blood clotting leading to abnormal bleeding. The hemophilia gene is
located on the X chromosome that encodes gender. Since males have an
X and a Y chromosome, they inherit only one copy of the X chromosome
(from their mother). So, if their mother is a carrier of the mutated gene,
they have a better chance of inheriting hemophilia. Females have two X
chromosomes (one from their mother and one from their father), and
one usually has a normal copy of the gene. This means most women
with the gene mutation are carriers, but have no signs or symptoms of
the disease.
Hemophilia
Huntington’s Disease

Huntington's disease is an inherited condition that comes on in mid-life.