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SCREENING FOR CONGENITAL ANOMALIES

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									SCREENING FOR
 CONGENITAL
  ANOMALIES
                 Definition
A disease characterized by structural
  deformities
    • existing at birth
    • and often before birth
    • or that develop during the first month of life
      (neonatal disease)
regardless of causation are termed
  "CONGENITAL ANOMALIES",
•   INTRODUCTION
•   GENETIC COUNSELING
•   METHODS
•   CONCLUSION
              INTRODUCTION
Prenatal screening for congenital abnormalities
  and genetic disorders has become
  increasingly important and complex
Factors to be considered in the planning of a
  genetic screening program are
• Prevalance of the condition in the population
• Severity of the disorder
• Specificity and sensitivity
• Cost
                CAUSES
• 40-60% of congenital anomalies in
  humans is unknown termed as
  SPORADIC
• 20-25% - "multifactorial"
• 10-13% - environmental (e.g. infections,
  illness, or drug abuse in the mother)
• 12-25% - genetic
When is a Genetics evaluation indicated
 for infants with congenital anomalies?
• A. For diagnosis
      • Any infant with more than one major anomaly, or one major and
        multiple minor anomalies
      • Any infant with one or more major anomaly and/or multiple minor
        anomalies, and a family history of congenital anomalies, recurrent
        pregnancy losses (>2), neonatal death, mental retardation, or
        parental consanguinity.
      • Any infant with anomalies and a history of exposure to a potential
        teratogen during the pregnancy.
• B. For management of an established diagnosis
      • Recommendations for expectant management of associated
        complications
      • Coordination of tertiary care
      • “Parallel" care (e.g., skeletal dysplasias)
• C. For counseling
      • 1. Grief 2. Recurrence risks 3. Identification of resources for
        additional support
     GENETIC COUNSELING
• Prior to prenatal testing is important
   – Potential risks
   – Adverse effects
   – Possible benefits
           METHODS
• ULTRASOUND
• CYTOGENETIC TECHNIQUES
 – AMNIOCENTESIS
 – CHORION VILLUS SAMPLING
• SERUM ALPHA-FETOPROTEIN
AIM OF SCREENING IS TO
1. DIAGNOSIS
2. EARLY INTERVENTION
3. TREATMENT and last but not the least is
4. PREVENTION

								
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