congenital anomalities Pediatric nursing

Apr 6, 20240 likes43 views

Congenital anomalies refer to abnormalities present at birth, including malformations (abnormal organ formation) and anomalies (abnormal structure or function). Risk factors include advanced maternal age, consanguinity, and malnutrition. Causative factors are genetic factors like chromosomal abnormalities, single gene disorders, and multifactorial inheritance; environmental factors like infections, drug use, radiation, and pollution; and unknown idiopathic causes. Diagnostic tools include prenatal testing like amniocentesis and ultrasound, and postnatal tests like blood tests and imaging. Common types of congenital anomalies affect the nervous, cardiovascular, gastrointestinal, respiratory, genitourinary, musculoskeletal, and endocrine systems.

Presented by-Shalini Rana(Nursing Tutor)
Subject-Child Health Nursing
1 Presentation 2 - 3 June 2023

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

Risk factors
Q2.Explain risk factors of congenital anomalies.
? Advanced maternal age
? consanguinity(blood relation
marriages)
? maternal malnutrition
3 Presentation 2 - 3 June 2023

Etiology
Q3.What are the causative factors of congenital anomalies?
? Answer:-
? Unknown cause(idiopathic)
? Genetic factor
? Environmental factor
4 Presentation 2 - 3 June 2023

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

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

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

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

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

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

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

contd....
? 8)metabloc disorders
? 9)Endocrinal disorders
? 10)chromosomal abnormalities
12 Presentation 2 - 3 June 2023

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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

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