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Questions and Answers
What is the most severe type of spina bifida?
What is the most severe type of spina bifida?
Where does myelomeningocele typically occur along the spine?
Where does myelomeningocele typically occur along the spine?
Which of the following statements about myelomeningocele is correct?
Which of the following statements about myelomeningocele is correct?
What is another name used for myelomeningocele?
What is another name used for myelomeningocele?
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What anatomical structure is primarily affected in myelomeningocele?
What anatomical structure is primarily affected in myelomeningocele?
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What forms a sac on the baby's back at birth?
What forms a sac on the baby's back at birth?
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What typically gets exposed in the sac formed on the baby's back?
What typically gets exposed in the sac formed on the baby's back?
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Why do membranes and spinal nerves push through an opening at birth?
Why do membranes and spinal nerves push through an opening at birth?
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The sac formed during birth primarily consists of which two elements?
The sac formed during birth primarily consists of which two elements?
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What is the primary type of fluid involved in the sac that forms on the baby's back?
What is the primary type of fluid involved in the sac that forms on the baby's back?
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During which trimester is the blood test typically conducted?
During which trimester is the blood test typically conducted?
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What condition may be indicated by too much fluid in the amniotic sac during a prenatal ultrasound?
What condition may be indicated by too much fluid in the amniotic sac during a prenatal ultrasound?
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What anomaly may be observed related to the skull and brain during the assessment?
What anomaly may be observed related to the skull and brain during the assessment?
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Which of the following statements is true regarding polyhydramnios?
Which of the following statements is true regarding polyhydramnios?
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What is the main purpose of conducting a blood test in the second trimester?
What is the main purpose of conducting a blood test in the second trimester?
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What is a Ventricular Septal Defect (VSD)?
What is a Ventricular Septal Defect (VSD)?
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During normal fetal development, what is supposed to happen to the wall separating the heart's lower chambers?
During normal fetal development, what is supposed to happen to the wall separating the heart's lower chambers?
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What is the primary consequence of a VSD at birth?
What is the primary consequence of a VSD at birth?
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In which chambers of the heart does a Ventricular Septal Defect occur?
In which chambers of the heart does a Ventricular Septal Defect occur?
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What is the long-term risk associated with a non-closed VSD after birth?
What is the long-term risk associated with a non-closed VSD after birth?
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Which symptom is associated with changes in speech during the swallowing process?
Which symptom is associated with changes in speech during the swallowing process?
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What term is used to describe a ringing or buzzing sensation in the ears?
What term is used to describe a ringing or buzzing sensation in the ears?
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Which of the following symptoms indicates a potential curvature of the spine?
Which of the following symptoms indicates a potential curvature of the spine?
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Which symptom would indicate a heart rate that is slower than normal?
Which symptom would indicate a heart rate that is slower than normal?
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What symptom is NOT typically associated with swallowing difficulties?
What symptom is NOT typically associated with swallowing difficulties?
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Which of the following symptoms may indicate poor hand coordination?
Which of the following symptoms may indicate poor hand coordination?
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What symptom is closely related to dizziness?
What symptom is closely related to dizziness?
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Which condition can manifest along with trouble swallowing?
Which condition can manifest along with trouble swallowing?
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What effect does poor hand coordination most likely have on daily activities?
What effect does poor hand coordination most likely have on daily activities?
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Which of the following is NOT a symptom associated with the described conditions?
Which of the following is NOT a symptom associated with the described conditions?
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Study Notes
Birth Defects (Congenital Anomalies)
- Birth defects are abnormal growth changes in the body during fetal development.
- A birth defect is any medical condition present from birth; congenital means acquired in the womb.
- These conditions range from mild to severe, affecting organs or a single body part.
- Congenital anomalies affect around 3% of pregnancies.
- Healthcare providers often detect birth defects within the first year of a child's life, though not all are visible.
- Some birth defects are life-threatening, while their impact on a child's life varies depending on the diagnosis.
- Some birth defects only affect a child's appearance, while others impact thought, movement, and function.
Types of Congenital Anomalies
-
Structural:
- Heart defects
- Spina bifida
- Cleft lip or palate
- Clubfoot
-
Developmental:
- Down syndrome
- Visual impairments
- Hearing impairments
- Fetal alcohol spectrum disorders
- Cerebral palsy
- Muscular dystrophy
- Genetic disorders
- Specific language impairment
Congenital Heart Disease
- Diagrams showcasing different types of congenital heart disease are included (atrial septal defect, ventricular septal defect, aortic coarctation, Fallot's tetralogy).
- Diagrams highlight oxygenated, deoxygenated, and mixed blood flow in the heart.
Congenital Heart Defect (CHD)
- Aortic Valve Stenosis (AVS): The aortic valve narrows or closes, trapping blood flow and causing damage.
- Pulmonary Valve Stenosis: A thickened or fused valve prevents proper blood flow.
- Atrial Septal Defect (ASD): A hole in the wall separating the top two chambers allows oxygen-rich blood to leak into the oxygen-poor chambers.
- Ventricular Septal Defect (VSD): A hole in the wall between the lower chambers prevents oxygen-rich blood from mixing with oxygen-poor blood.
- Complete Atrioventricular Canal Defect (CAVC): A large hole affecting all four chambers, leading to oxygen mixing.
- Cyanotic CHD: Reduces oxygen delivery to the body.
- Acyanotic CHD: Blood contains enough oxygen but is pumped abnormally throughout the body.
Symptoms of Cyanotic and Acyanotic CHD
- Cyanotic: Bluish lips, fingers, toes, low body weight, delayed growth, poor appetite, hyperventilation, sweating, chest pain, fainting, and difficulty breathing.
- Acyanotic: Shortness of breath, especially with physical activity, sweating, slow growth, low body weight, difficulties feeding, extreme tiredness, and chest pain.
Risk Factors for CHD
- Maternal rubella infection
- Poorly managed diabetes (including gestational)
- Consumption of large amounts of alcohol
- Use of certain medications (e.g., isotretinoin, Accutane)
- Certain genetic conditions (e.g., trisomy 21, 18, or 13)
Diagnosis of CHD
- Before birth: Routine ultrasound scans and fetal echocardiography.
- After birth: Observing and identifying recognizable symptoms, and echocardiography.
Spina Bifida
- A birth defect where the spine and spinal cord don't form correctly.
- A type of neural tube defect, where the neural tube fails to close.
- The neural tube forms early in pregnancy.
- Defects vary in severity based on type, size, and location.
- Early treatment often involves surgery.
- Types include spina bifida occulta, myelomeningocele, and meningocele.
Causes and Risk Factors for Spina Bifida
- Folate deficiency.
- Family history of neural tube defects.
- Certain medications (e.g., valproic acid).
- Diabetes.
- Pre-pregnancy obesity.
- Increased body temperature during early pregnancy.
Symptoms of Spina Bifida
- Skin marks (tufts of hair, birthmarks)
- Problems with bladder and bowel function
- Neurological issues (e.g., paralysis, muscle weakness).
- Orthopedic complications (e.g., abnormal spine curvature (scoliosis), joint dislocation).
Complications of Spina Bifida
- Hydrocephalus.
- Infection in brain tissues (meningitis).
- Tethered spinal cord.
- Sleep-disordered breathing.
- Skin problems.
- Latex allergy.
Cleft Lip or Palate
- Openings or splits in the upper lip, palate, or both.
- Facial structures don't fully close during development.
- Common birth defect.
- Can be corrected with surgery.
- Males are more likely to have a cleft lip, while cleft palate without cleft lip is more common in females.
Cleft Lip and Palate: Causes and Risk Factors
- Genetic factors (family history of cleft lip and/or palate).
- Exposure to certain substances during pregnancy (e.g., smoking, drugs, alcohol).
- Maternal diabetes.
- Maternal obesity.
Clubfoot
- Congenital foot deformity.
- Baby's foot twists inward.
- Tendons are shorter than usual.
- Typically corrected with early physical therapy or surgery.
- Types may include an isolated or idiopathic clubfoot, or non-isolated clubfoot.
Types and Causes of Clubfoot
- Isolated/idiopathic: No other medical issues.
- Non-isolated: Associated with other health problems (e.g., spina bifida).
- Risk factors: Family history, genetics, and environmental factors including smoking and certain medications during pregnancy.
Chromosomal Defects
- Down syndrome: Trisomy 21 (extra copy of chromosome 21).
- Edwards syndrome: Trisomy 18 (extra copy of chromosome 18).
- Patau syndrome: Trisomy 13 (extra copy of chromosome 13).
- Turner syndrome: Monosomy X (missing or incomplete X chromosome).
Down Syndrome (Trisomy 21): Symptoms and Features
- Flattened face, especially bridge of the nose.
- Almond-shaped eyes that slant upward.
- Short neck
- Small ears
- Tongue protruding from the mouth
- Narrower than average hands & feet, single line across palm
- Weak muscle tone and loose joints
- Shorter in height
Down Syndrome: Types
- Trisomy 21: Have three copies of chromosome 21.
- Translocation: Extra chromosome 21 material is attached to another chromosome.
- Mosaic: Some cells have three copies of chromosome 21 and some have two.
Down Syndrome (Trisomy 21): Diagnosis
- Screening tests: Blood tests and ultrasound (checking for extra fluid behind the baby's neck).
- Diagnostic tests: Chorionic villus sampling (CVS) or amniocentesis (takes samples from the placenta or amniotic fluid).
Other Health Problems Associated with Down Syndrome
- Hearing loss
- Obstructive sleep apnea.
- Ear infections
- Eye problems
- Heart defects
- Other congenital disorders
Edwards Syndrome (Trisomy 18): Symptoms and Features
- Over-developed or prominent occiput (back of the head).
- Small head
- Low-set or abnormally shaped ears
- Hands or feet clenched, fingers overlapped.
- Problems with breathing.
- Heart defects
- Additional structural defects
Patau Syndrome (Trisomy 13): Symptoms and Features
- Facial abnormalities, including cleft lip and cleft palate.
- Microcephaly (small head size).
- Eye abnormalities (e.g., eye defects, abnormalities of the central nervous system).
- Varying degrees of malformations and abnormalities.
Turner Syndrome: Symptoms and Features
- Short stature
- Broad chest with widely spaced nipples
- Webbing of the neck
- Lymphedema (swelling of hands and feet)
- Ovarian problems (infertility)
- Cardiac abnormalities (e.g., coarctation of the aorta)
Congenital Anomalies of the Urinary System
- Horseshoe kidney: The kidneys are fused together.
- Polycystic/multicystic kidney disease: Fluid-filled cysts in the kidneys.
- Renal agenesis: Absence of one or both kidneys.
- Renal hypoplasia: Underdeveloped kidneys.
- Renal dysplasia: Kidneys don’t develop correctly.
- Kidney tumors: Abnormal growths in the kidneys.
Congenital Anomalies of the Ureters
- Duplicated ureter: One kidney has two ureters instead of one.
- Ureteropelvic junction obstruction: Blockage where the kidney meets the ureter.
- Ureterovesical junction obstruction/ureterocele: Blockage where the ureter meets the bladder.
- Vesicoureteral reflux: Urine flows back into the kidneys.
Signs of Congenital Anomalies of the Kidneys and Urinary Tract
- Frequent urinary tract infections (UTIs).
- Lack of energy, persistent tiredness.
- Loss of appetite.
- Nausea
- Poor growth.
- Swollen belly.
- Swelling in hands, feet, or face near the eyes.
- Unexplained fever.
- Vomiting.
Treatment of Congenital Kidney and Ureter Diseases
- Antibiotics.
- Observation (some problems resolve as the child grows).
- Surgery (for vesicoureteral reflux or blockages).
Congenital Brain Defects
- Brain development begins in the first month after conception.
- Defects caused by interruptions or disturbances during development.
- Symptoms may not be apparent until adulthood.
- Common symptoms include cardiovascular, gastrointestinal, and other abnormalities; cleft lip or palate, seizures, head pain, muscle weakness, vision problems, and bladder or bowel problems.
Types of Congenital Brain Defects
- Anencephaly: Major portion of the skull and brain is missing.
- Encephalocele: Bulging of brain tissue through an opening in the skull.
- Arnold-Chiari or Chiari II: Part of the cerebellum shifts downward, compressing the brain or spinal cord.
- Hydrocephalus: Excessive cerebrospinal fluid in the brain.
- Porencephaly: Cyst or cavity filled with cerebrospinal fluid develops in the brain.
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Description
This quiz explores the various aspects of birth defects, also known as congenital anomalies, which can range from structural issues to developmental challenges. Learn about the different types of birth defects, their impact on individuals, and the prevalence of these conditions. Test your knowledge on this critical topic in maternal and child health.
