Podcast
Questions and Answers
What is the approximate percentage of live births in the United States affected by congenital malformations?
What is the approximate percentage of live births in the United States affected by congenital malformations?
What is a leading cause of infant mortality and morbidity?
What is a leading cause of infant mortality and morbidity?
Which of the following is an example of a chromosomal abnormality?
Which of the following is an example of a chromosomal abnormality?
What type of congenital malformation is spina bifida?
What type of congenital malformation is spina bifida?
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What is a common prenatal test used to detect congenital malformations?
What is a common prenatal test used to detect congenital malformations?
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What is a common postnatal management approach for congenital malformations?
What is a common postnatal management approach for congenital malformations?
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What is a type of congenital malformation that can be caused by maternal infections?
What is a type of congenital malformation that can be caused by maternal infections?
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What is a nutritional deficiency that can increase the risk of congenital malformations?
What is a nutritional deficiency that can increase the risk of congenital malformations?
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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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Description
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.
