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Questions and Answers
What are types of congenital anomalies?
What are types of congenital anomalies?
- Limb anomalies
- Congenital heart defects
- Nervous system defects
- All of the above (correct)
Which of the following is a common cause of congenital anomalies?
Which of the following is a common cause of congenital anomalies?
- Genetic and environmental problems
- Inherited causes
- Conditions during first trimester
- All of the above (correct)
What is dysmelia?
What is dysmelia?
A limb anomaly
Neonatal testing can be done to diagnose or screen for potential pathological conditions.
Neonatal testing can be done to diagnose or screen for potential pathological conditions.
What does the acronym AFP stand for in the context of screening for neural tube defects?
What does the acronym AFP stand for in the context of screening for neural tube defects?
Which test is recommended for screening phenylketonuria?
Which test is recommended for screening phenylketonuria?
Match the congenital abnormality to its corresponding example:
Match the congenital abnormality to its corresponding example:
Developmental delay refers to a significant lag in a child's development compared to norms.
Developmental delay refers to a significant lag in a child's development compared to norms.
What can cause environmental risk factors for developmental delay?
What can cause environmental risk factors for developmental delay?
Which of the following is a behavioral warning sign of developmental delay?
Which of the following is a behavioral warning sign of developmental delay?
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Study Notes
Genetic Testing in Neonates and Children
- Screening aims to identify congenital abnormalities, developmental delays, and dysmorphism in newborns and children.
- Congenital abnormalities are conditions present at birth that deviate from standard development.
Types of Congenital Abnormalities
- Limb Anomalies (Dysmelya): Includes conditions such as amelia, ectrodactyly, phocomelia, polydactyly, syndactyly, and achondroplasia.
- Heart Anomalies: Common issues include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of Fallot.
- Nervous System Anomalies: Conditions like neural tube defects, Arnold-Chiari malformation, macrocephaly, and polymicrogyria.
- Gastrointestinal Anomalies: Encompass various forms of stenosis, atresia, and imperforate anus.
Causes of Congenital Anomalies
- Idiopathic: Unknown causes account for the majority of congenital abnormalities.
- Genetic and Environmental Factors: Conditions like spina bifida and cleft lip may arise from genetic predisposition combined with environmental toxins during pregnancy.
- First Trimester Conditions: Certain diseases during the first nine weeks of pregnancy can lead to congenital defects.
- Inherited Causes: Chromosomal abnormalities passed from parents can contribute to congenital conditions.
Neonatal Screening Techniques
- Neural Tube Defect: Maternal serum AFP and ultrasound (USG) recommended for screening.
- Phenylketonuria: Diagnosed through blood and urine tests in neonates.
- Congenital Hypothyroidism: Testing involves measuring thyroxine (T4) or thyroid-stimulating hormone (TSH) levels.
- Maple Syrup Urine Disease: Diagnosis via serum levels of branched-chain amino acids.
- Galactosemia: Screening performed through urine or serum assessment for galactose.
- Cystic Fibrosis: Prenatal DNA testing identifies carriers; neonatal diagnosis checks for high sweat chloride levels.
- Trisomy Conditions: Prenatal testing methods include amniocentesis, chorionic villus sampling (CVS), and triple marker tests.
Developmental Delay
- Refers to delays in physical, cognitive, behavioral, emotional, or social development compared to normative milestones.
Risk Factors for Developmental Delay
- Genetic Factors: Includes genetic or chromosomal abnormalities.
- Environmental Factors: Exposure to harmful agents, poor maternal nutrition, and infections during pregnancy can increase risk.
Warning Signs of Developmental Delay
- Behavioral Indicators:
- Difficulty maintaining attention or prolonged focus on activities compared to peers.
- Preference for unusual objects over social interaction.
- Limited eye contact and excessive frustration with simple tasks.
- Aggressive behavior, stubbornness, and frequent violent actions.
- Repetitive behaviors such as rocking, talking to oneself, or staring into space.
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