Congenital Malformations: Definition and Causes
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Questions and Answers

What is the approximate percentage of live births in the United States affected by congenital malformations?

  • 3-4% (correct)
  • 1-2%
  • 5-6%
  • 7-8%

What is a leading cause of infant mortality and morbidity?

  • Premature birth
  • Infections
  • Congenital malformations (correct)
  • Genetic disorders

Which of the following is an example of a chromosomal abnormality?

  • Cystic fibrosis
  • Thalidomide
  • Down syndrome (correct)
  • Rubella

What type of congenital malformation is spina bifida?

<p>Neural tube defect (D)</p> Signup and view all the answers

What is a common prenatal test used to detect congenital malformations?

<p>Ultrasound (A)</p> Signup and view all the answers

What is a common postnatal management approach for congenital malformations?

<p>Multidisciplinary team approach (B)</p> Signup and view all the answers

What is a type of congenital malformation that can be caused by maternal infections?

<p>Rubella (C)</p> Signup and view all the answers

What is a nutritional deficiency that can increase the risk of congenital malformations?

<p>Folic acid (A)</p> Signup and view all the answers

Study Notes

Definition and Epidemiology

  • Congenital malformations are structural or functional anomalies that occur during fetal development, present at birth.
  • Also known as birth defects or congenital anomalies.
  • Affect approximately 3-4% of live births in the United States.
  • Leading cause of infant mortality and morbidity.

Causes and Risk Factors

  • Genetic factors:
    • Chromosomal abnormalities (e.g., Down syndrome)
    • Single gene mutations (e.g., cystic fibrosis)
  • Environmental factors:
    • Maternal infections (e.g., rubella)
    • Teratogens (e.g., thalidomide)
    • Nutritional deficiencies (e.g., folic acid)
  • Multifactorial inheritance:
    • Interaction between genetic and environmental factors

Types of Congenital Malformations

  • Craniofacial malformations:
    • Cleft lip and palate
    • Craniosynostosis
  • Cardiovascular malformations:
    • Ventricular septal defects
    • Atrial septal defects
    • Tetralogy of Fallot
  • Gastrointestinal malformations:
    • Gastrochisis
    • Omphalocele
    • Imperforate anus
  • Musculoskeletal malformations:
    • Clubfoot
    • Polydactyly
    • Craniosynostosis
  • Neural tube defects:
    • Spina bifida
    • Anencephaly
    • Encephalocele

Detection and Diagnosis

  • Prenatal testing:
    • Ultrasound
    • Maternal serum alpha-fetoprotein (MSAFP) screening
    • Chorionic villus sampling (CVS)
    • Amniocentesis
  • Postnatal evaluation:
    • Physical examination
    • Imaging studies (e.g., X-ray, CT, MRI)
    • Genetic testing

Management and Treatment

  • Prenatal management:
    • Counseling and education
    • Fetal therapy (e.g., surgery)
    • Pregnancy termination
  • Postnatal management:
    • Surgical correction
    • Medical management (e.g., medications, therapy)
    • Multidisciplinary team approach

Definition and Epidemiology

  • Congenital malformations are structural or functional anomalies that occur during fetal development, present at birth.
  • Also known as birth defects or congenital anomalies.
  • Affect approximately 3-4% of live births in the United States.
  • Leading cause of infant mortality and morbidity.

Causes and Risk Factors

  • Genetic factors contribute to congenital malformations, including chromosomal abnormalities (e.g., Down syndrome) and single gene mutations (e.g., cystic fibrosis).
  • Environmental factors that contribute to congenital malformations include maternal infections (e.g., rubella), teratogens (e.g., thalidomide), and nutritional deficiencies (e.g., folic acid).
  • Multifactorial inheritance involves the interaction between genetic and environmental factors.

Types of Congenital Malformations

Craniofacial Malformations

  • Cleft lip and palate
  • Craniosynostosis

Cardiovascular Malformations

  • Ventricular septal defects
  • Atrial septal defects
  • Tetralogy of Fallot

Gastrointestinal Malformations

  • Gastrochisis
  • Omphalocele
  • Imperforate anus

Musculoskeletal Malformations

  • Clubfoot
  • Polydactyly
  • Craniosynostosis

Neural Tube Defects

  • Spina bifida
  • Anencephaly
  • Encephalocele

Detection and Diagnosis

Prenatal Testing

  • Ultrasound
  • Maternal serum alpha-fetoprotein (MSAFP) screening
  • Chorionic villus sampling (CVS)
  • Amniocentesis

Postnatal Evaluation

  • Physical examination
  • Imaging studies (e.g., X-ray, CT, MRI)
  • Genetic testing

Management and Treatment

Prenatal Management

  • Counseling and education
  • Fetal therapy (e.g., surgery)
  • Pregnancy termination

Postnatal Management

  • Surgical correction
  • Medical management (e.g., medications, therapy)
  • Multidisciplinary team approach

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Learn about the definition, epidemiology, causes, and risk factors of congenital malformations, also known as birth defects or congenital anomalies. Understand the genetic and environmental factors that contribute to these conditions.

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