Congenital malformations
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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.
Congenital 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
- 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