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congenital anomalities Pediatric nursing
- 1. Presented by-Shalini Rana(Nursing Tutor) Subject-Child Health Nursing 1 Presentation 2 - 3 June 2023
- 2. Congenital Anomalies Q1.Explain the meaning of congenital disorders. • De fi nition-Those diseases who are determined before or during birth. • it is one of form of reproductive failure. • anomaly -abnormalities of body structure or function • malformation-abnormal formation of body organ. • Considered as third most frequent cause of perinatal mortality in India. 2 Presentation 2 - 3 June 2023
- 3. Risk factors Q2.Explain risk factors of congenital anomalies. • Advanced maternal age • consanguinity(blood relation marriages) • maternal malnutrition 3 Presentation 2 - 3 June 2023
- 4. Etiology Q3.What are the causative factors of congenital anomalies? • Answer:- • Unknown cause(idiopathic) • Genetic factor • Environmental factor 4 Presentation 2 - 3 June 2023
- 5. Genetic factors What are the di ff erent kinds of chromosomal abnormalities? • congenital anomalies are inherited through the genes in the ovum or sperm. • types- • chromosomal abnormalities • single gene disorders • multifactoral inheritence(polygenic) 5 Presentation 2 - 3 June 2023
- 6. contd... Chromosomal abnormalities • most common-Down's syndrome(trisomy of 21st chromosome) • chromosomal abnormalities occur either in the form of numerical or structural alterations.example-non- disjunction,deletion,duplication etc. 6 Presentation 2 - 3 June 2023
- 7. Single Gene Disorders • autosomal dominant traits- achondroplasia,polydactyly etc • Autosomal recessive trait- albinism,Hirschspring's disease • X-linked inheritance- x linked recessive and x-linked dominant traits 7 Presentation 2 - 3 June 2023
- 8. Polygenic(multifactoral inheritance) • due to combination of multiple gene abnormality. • example-pyloric stenosis,cleft lip or palate etc • if one parent is a ff ected,then risk is more. 8 Presentation 2 - 3 June 2023
- 9. Environmental Factors • Intrauterine infections (STORCH- syphilis,toxoplasmosis,rubella,cy tomegalovirus and herpes virus) • Drug intake by mother during pregnancy • x ray exposure during pregnancy • maternal addiction • environmental pollution etc. 9 Presentation 2 - 3 June 2023
- 10. Diagnostic Approaches Q.What are the diagnostic evaluation tools for congenital malformation? • 1)Prenatal diagnosis- amniocentesis,chorionic villus sampling,ultrasonography,fetosc opy • 2)Post natal diagnosis- biochemical assay,cytogenic study,blood test,hormonal assay,radiography,ultrasonograp hy wtc. 10 Presentation 2 - 3 June 2023
- 11. Common Congenital Anomalies Q.What are the common types of congenital anomaliey? • 1)Central nervous system defects • 2)Congenital heart diseases • 3)Gastrointestinal system abnormalities • 4)Respiratory system abnormalities • 5)Genitourinary system abnormalities • 6)musculoskeletal abnormalities • 7)blood disorders 11 Presentation 2 - 3 June 2023
- 12. contd.... • 8)metabloc disorders • 9)Endocrinal disorders • 10)chromosomal abnormalities 12 Presentation 2 - 3 June 2023