This document describes congenital anomalies and malformations, their causes, types, and prevention. It finds the incidence of birth defects in India is 2.5-4% with central nervous system abnormalities being the most common at 22%. Risk factors include advanced maternal age, consanguinity, and malnutrition. Congenital malformations can be caused by genetic, chromosomal, or environmental factors. Common types involve the central nervous system, cardiovascular, gastrointestinal, genitourinary, musculoskeletal, and endocrine systems. Prevention strategies include genetic counseling, promoting preconception health, and antenatal care.

1. Congenitl malformations

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.

3. Incidence
In India, 2.5 - 4%. Most common birth defects are CNS abnormalities
22%.

4. RISK FACTORS
 Advanced maternal age
 Consanguinity
 Maternal malnutrition

5. etiology Congenital malformations
Genetic factors
Chromosomal
(6%)
Single gene
disorder (5%)
autosomal
Dominant
(70%)
Polycystic
kidney,
polydactyly
Recessive
(20%)
Cystic fibrosis
Sickel cell anemia
thalessemia
X- linked
disorder
Haemophilia,
colour
blindness
Environmental
factors

6. diagnosis

7. Common congenital malformations

8. cns
Anencephaly: a baby born with an
underdeveloped brain and an
incomplete skull.

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.

12. Hydrocephalus: a build-up of fluid in the cavities deep within
the brain.

14. Microcephaly: a baby’s head
is significantly smaller than
expected, often due to
abnormal brain development.

15. Cardiovascular system
VSD: defect due to
abnormal connection
between the lower
chambers of the heart
(ventricles)

16. ASD: a hole in the wall between
the heart’s upper chambers (atria)

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).

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

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.

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

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.

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

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.

35. Hypospadias:
opening of the penis is
on the underside rather than
the tip.

37. Musculoskeletal system
Club foot: a birth defect in which the foot
is twisted out of shape or position.

38. Polydactyl: baby is born with extra
finger on the hand or an extra toe on
foot.

39. Webbed fingers (Syndactyl): abnormal connection of 2 fingers

40. Blood disorders
Thalessemia: inherited blood disorder characterized by less oxygen-
carrying protein and fewer red blood cells in the body than normal.

41. Haemophilia: in which blood doesn't clot normally.

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.

45. Wilson’s disease: an
inherited disorder that
causes too much
copper to accumulate
in the organ.

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.

50. Congenital hypopituitarism
(DWARFISM): babys born
without normal production of
1 or more of the hormones
normally produced in the
pituitary gland.

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.

53. Turner syndrome: in which a female is born with only one X
chromosome.

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

57. Role of nurse