2. A WHO document describes congenital anomaly being
used to include all biochemical, structural and functional
disorders present at birth and the congenital malformation
should be confined to structural defects only, present at birth.
9. Spina bifida occulta: in which
a developing baby’s spinal cord
fails to develop or close
properly while in the womb.
10. Encephalocele: it’s a neural
tube defect in which sac-like
protrusions of the brain and the
membranes that cover it
through openings in the skull.
• Caused by failure of the
neural tube to close
completely during fetal
development.
16. ASD: a hole in the wall between
the heart’s upper chambers (atria)
17.
18. PDA: is an opening between two blood vessels leading from the heart,
the ductus arteriosus fails to close after birth.
19. Tetralogy of fallot’s:
combination of 4
congenital defect–
• VSD, pulmonary
valve stenosis,
misplaced aorta and
Rt. ventricular
hypertrophy
20. • Transposition of great
arteries: two main
arteries leaving the
heart are reversed
(transposed).
21.
22. GI SYSTEM
TRACHEO-ESOPHAGEAL
FISTULA & ATRESIA:
Connection between the trachea
& oesophagus.
ATRESIA: causes esophagus to
end in a blind- ended pouch
rather than connecting normally
to the stomach
23.
24. Duodenal atresia:
it is the congenital absence or
complete closure of a portion of the
lumen of the duodenum. It causes
increased levels of amniotic fluid
duringb pregnancy and intestinal
obstruction.
25.
26. Meconium ileus:
It is a bowel
obstruction that occurs
when the meconium is
even thicker and sticker
than normal meconium,
creating a blockage in a
part of the small intestine
called the ileum. Infants
with this have a disease
called cystic fibrosis
27.
28. Hirschsprung’s disease:
it involves missing nerve
cells in the muscles of part or all
of the large intestine(colon),
causes difficulty in passing stool.
29.
30. Diaphragmatic hernia:
there is a abnormal
opening in the diaphragm.
The opening allows part of
the organs from the belly to
move into the chest cavity
near the lungs.
31. Imperforate anus:
its an anorectal malformations
(ARM) in which the opening to the anus
is missing or blocked.
32. Exomphalos(omphalocele)
it’s a weekness of baby’s
abdominal wall where the umbilical
cord joins it. This weekness allows
the abdominal contents, mainlky the
bowel and the liver to protrude
outside the abdominal cavity where
they are contained in a loose sac that
surrounds the umbilical cord
33.
34. Genitourinary system
Polycystic kidney:
autosomal recessive is a
rare genetic disorder in which
fluid filled kidney cysts that may
make the kidneys too big, or
enlarged. Poor kidney function
can cause breathing problems
that can threaten the life of a
fetus or baby.
42. Sickle cell anaemia: a group of disorders that cause red blood cells to
become missaphen and break down
43. Metabolic disorders
Cystic fibrosis: an inherited
life-threatening disorder that
damage the lungs and
digestive system. It affects
the cells that produce mucus,
sweat and digestive juices. It
causes fluids to become thick
and sticky. They then plug up
tubes, ducts and
passageways.
48. Galactosemia: a condition in
which the body is unable to
use (metabolize) the simple
sugar galactose.
49. Endocrinal abnormalities
Congenital hypothyroidism: inadequate
thyroid hormone production in newborn
infants. Occur due to anatomic defect in
the gland, an inborn error of thyroid
metabolism, or iodine deficiency.
51. Congenital goiter: is a
diffuse or nodular
enlargement of the thyroid
gland present at birth.thyroid
hormone secretion may be
decreased, increased or
normal
52. Chromosomal anomalies
Down’s syndrome (Trisomy 21): genetic
disorder caused when abnormal cell
division results in extra genetic material
from chromosome 21.
56. Prevention of congenital anomalies
Genetic counselling
Reducing & discouraging the consanguinous marriages
Avoiding late marriages and avoidance of pregnancy beyond the age of 35 yrs.
Promotion of health of girl child and pre-pregnant health status of females by
prevention of malnutrition, anemia, folic acid deficiency, iodine deficiency etc.
Encouraging the immunization of all girl child by MMR
Elimination of active & passive smoking of tobacco by mothers
Avoidance of drug intake consulting physician
Prevention of intrauterine infection and promotion of sexual hygiene
Efficient antenatal care
Promotion of therapeutic abortion of abnormal fetus
Discouraging the reproduction after birth of a baby with congenital anomalies,
without genetic counselling