congenital anomalies.pptx

congenital anomalies

1. Congenital Anomalies

2. Congenital anomalies are those defects and diseases which are substantially determined before or during birth and recognizable in early life. Some disorders are detected at birth, eg; cleft lip and cleft palate.

3. Some are obvious in early life like congenital hip dislocation which is detected until walking commence and some may become apparent until much later in life, e.g ; patent ductus arteriosus, which is usually diagnosed at school age or even later. Some defects are classified as major which may require surgical interventions, either as emergency or elective. Some are classified as minor and have no functional implications, like skin tags in front of the ear.

4. Definition 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.

5. Incidence In India, the incidence of congenital defects is about 2.5 to 4% among children most common type of birth defects is CNS abnormalities, approximately 22 % of all defects . In Northern part of India, neural tube defects are most common, where as in the rest of India musculoskeletal disorders are commonly found.

6. Risk factors Advanced maternal age Consanguinity Maternal malnutrition especially folic acid deficiency can lead to CNS defects

7. Etiology Genetic factors: The anomalies may be related to chromosomal abnormalities, single gene disorders or polygenic inheritance. Single gene disorders may be either autosomal or X-linked inheritance which may be dominant or recessive traits . Chromosomal abnormalities: The most common is Down's syndrome or Trisomy 21

8. Single gene disorders: They are found as autosomal dominant inheritance, autosomal recessive inheritance and X-linked inheritance. Autosomal dominant traits: Huntington's chorea, polydactyly, polycystic kidney, retinoblastoma etc ; Autosomal recessive traits: Cystic fibrosis, microcephaly, sickle cell anemia, thalassemia, phenylketonuria, Hirschsprung disease etc

9. Environmental factors: Intra uterine infections especially by STORCH (syphilis, Toxoplasmosis, Rubella, Cytomegalovirus and Herpes virus ) Drug intake by the mother during pregnancy like steroid hormones, anticonvulsants, cocaine, lithium, thalidomide etc ;

10. X-ray exposure during pregnancy Maternal diseases like DM, cardiac failure, malnutrition, folic acid deficiency, iodine deficiency disorders, endocrine abnormalities .

11. Abnormal intra uterine environment like bicornuate uterus, polyhydramnios, oligohydramnios, fetal hypoxia etc; Maternal addiction with alcohol, tobacco or smoking Environmental pollution, especially air pollution

12. Diagnostic approaches Prenatal diagnosis Amniocentesis in early pregnancy Chorionic villus sampling Estimation of maternal serum alpha fetoprotein Ultrasonography Fetoscopy Amniography Fetal blood sampling Radiography Antenatal screening of maternal disease

13. Postnatal diagnosis Maternal and family history Thorough physical examination. Biochemical assay Cytogenic study Blood test Hormonal assay Radiography Ultrasonography

14. Common congenital anomalies CNS defects Congenital include- Anencephaly, spina bifida occulta, spina bifida cystic (meningocele, meningomyelocele, meningoencephalocele, encephalocele), hydrocephalus, microcephaly.

15. Congenital heart diseases ASD , VSD, PDA, Fallot's tetralogy, pulmonic stenosis, aortic regurgitation, tricuspid atresia, transposition of great vessels

16. Gl system Abnormalities Tracheo-esophageal fistula, esophageal atresia, congenital pyloric stenosis, duodenal atresia, meconium ileus, congenital megacolon( Hirschsprung's disease), ano -rectal malformations, umbilical hernia, diaphragmatic hernia, congenital intestinal obstruction.

17. Respiratory system Trachea esophageal fistula, congenital atelectasis, congenital cyanosis, congenital strider

18. Genitourinary system Congenital hydro nephrosis, congenital polycystic kidney, horse-shoe kidney, posterior urethral valves, hypospadias, epispadias, congenital phimosis, congenital hydrocele, undescended testis, congenital inguinal hernia, ambiguous genitalia, malformations of reproductive organs.

19. Musculoskeletal abnormalities: Club foot, talipes, congenital hip dislocation, polydactyl, webbed fingers, Phocomelia, congenital scoliosis, muscular dystrophies

20. Blood disorders: Thalassemia, hemophilia, sickle cell anemia, congenital spherocytosis

21. Metabolic disorders: Cystic fibrosis, phenylketonuria, congenital lactose intolerance, glycogen storage diseases, Tay -Sachs disease, Gaucher disease, Wilson's disease, galactosemia

22. Endocrinal abnormalities: Congenital hypopituitarism (dwarfism), congenital hypothyroidism (cretinism), congenital adreno-genital hyperplasia, congenital goiter, DM.

23. Chromosomal anomalies: Down's syndrome(Trisomy21), Patau's syndrome (TRisomy-13), Edward's syndrome (Trisomy-18), Turner syndrome, Klinefelter syndrome, cridu chat syndrome

24. Tracheoesophageal Fistula And Esophageal Atresia . Tracheoesophageal fistula is a developmental anomaly characterized by an abnormal connection between the trachea and the esophagus and usually accompanies esophageal atresia. Esophageal atresia is failure of the esophagus to form a continuous passage from the pharynx to the stomach .

25. Signs and symptoms vary according to location of fistula and atresia . The infant appears to swallow normally but soon after coughs, struggles, become cyanotic, and stops breathing . Stomach distention may cause respiratory distress. Air and gastric contents may reflux through the fistula into the trachea resulting in chemical pneumonitis. If there is esophageal atresia without a fistula, as secretions fill the esophageal sac and overflow into the oropharynx, the infant develops mucus in the oropharynx and drools excessively. Repeated episodes of pneumonitis, pulmonary infection and abdominal distention may be present.

26. Diagnosis Catheter passed through the nose meets an obstruction . Chest x-ray. Abdominal x-ray. Cinefluorography .

27. Treatment Tracheoesophageal fistula and esophageal atresia requires surgical correction and are usually considered a surgical emergency . The type of surgical procedure and when it is performed depends on the nature of the anomaly, the patient's general condition, and the presence of coexisting congenital defects.

28. Postoperative complications Tracheoesophageal fistula: a ) Recurrent fistulas . b ) Esophageal mobility dysfunction . c ) Esophageal stricture . d ) Recurrent bronchitis . e ) Pneumothorax. f) Failure to thrive . Esophageal atresia: a ) Impaired esophageal motility . b ) Hiatal hernia . c ) Reflux esophagitis.

29. Nursing interventions Monitor respiratory status. Perform pulmonary physiotherapy. Suction as necessary. Administer antibiotics and parenteral fluids as ordered. Observe for signs of complications (that is pneumothorax).

30. Maintain gastrostomy tube feedings. Accurate I & O. Give the baby a pacifier to satisfy his sucking needs but only when he can safely handle secretions. Offer the parents support and guidance and encourage bonding. Positioning before and after surgery varies with the doctor's philosophy and the child's anatomy. Supine with his head low to facilitate Head elevated to prevent aspiration.

31. Prevention of congenital anomalies: The preventive measures should include the following aspects: Genetic counseling Reducing and discouraging the consanguineous marriages Avoiding late marriages in females and avoidance of pregnancy beyond the age of 35 years .

32. Promotion of health of girl child and pre-pregnant health status of the females by prevention of malnutrition, anemia, folic acid deficiency, iodine deficiency etc ; Encouraging the immunization of all girl child by MMR Elimination of active and passive smoking of tobacco by mothers. Avoidance of drug intake without consulting physician Prevention of intra uterine infections and promotion of sexual hygiene

33. Efficient antenatal care especially removal of teratogens, prevention of malnutrition by adequate diet. Promotion of therapeutic abortion of abnormal fetus, Discouraging reproduction after birth of a baby with congenital anomalies, without genetic counseling. Increasing public awareness about the risk factors and etiological factors of congenital anomalies Promotion of detection of genetic carriers Reducing the frequency of hereditary disease

34. Nursing responsibilities: Collection of detailed history of prenatal and post natal period along with history of family illness. Provide necessary information to the parents and family members Motivate the family members for genetic counseling and referring to the genetic clinic

35. Provide emotional support and answer questions asked by the counselee. Guide the family for rehabilitation of the child and for available social and economical support through social welfare agencies. Promote public awareness about the prevention of congenital anomalies by individual or group health education or by mass media informations.