Neonate Flashcards
Biliary atresia and physiological jaundice
Rf, classifications, Ddx, sx, ix, mx
Turner syndrome
cause, sx, ix, mx
Turner syndrome occurs when a female has a single X chromosome, making them 45 XO
Sx:
• Short stature
• Lymphoedema of hands and feet in neonate, may persist
• Spoon-shaped nails
• Webbed neck
• Widely spaced nipples
• Wide carrying angle
• Congenital heart defects - bicuspid aortic valve (most common), coarctation of the aorta.
• Delayed puberty.
• Ovarian dysgenesis causing infertility. - USS findings of ovary streaks.
• Hypothyroidism
• Recurrent otitis media
• Normal intellect
ix:
diagnosis requires confirmation with karyotyping (chromosomal analysis) after birth.
Further investigations may include:
• Bloods:
• LH, FSH may be elevated
• U&Es, HbAic, and TFTs to detect associated diabetes, thyroid dysfunction and renal impairment
• ECG and echocardiogram for diagnosis of associated cardiac anomalies
• Bone density scans to detect low bone mineral density
• Hearing tests
Mx:
Growth hormone therapy
Oestrogen and progesterone
Fertility treatment
Down’s syndrome
cause, sx, ix, mx
Down’s Syndrome is caused by three copies of chromosome 21. It is also called trisomy 21.
Sx:
Hypotonia (reduced muscle tone)
Brachycephaly (small head with a flat back)
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds
Upward sloping palpebral fissures
Single palmar crease
Ix:
Combined test (first line) 11-14 weeks
Ultrasound measures nuchal transluncency
Beta-HCG high results indicates higher risk
PAPPA low result indicates higher risk
Triple test 14-20 weeks
Quadruple test 14-20 weeks
CVS before 15 weeks
Amniocentesis
Mx:
Occupational therapy
Speech and language therapy
Physiotherapy
Dietician
Paediatrician
GP
Health visitors
Cardiologist for congenital heart disease
ENT specialist for ear problems
Audiologist for hearing aids
Optician for glasses
Social services for social care and benefits
Additional support with educational needs
Charities such as the Down’s Syndrome Association
Spina bifida
Path, sx, ix, mx
Pathophysiology and epidemiology
Congenital malformation due to failed fusion of caudal neural tube and subsequent in-utero degeneration of spinal cord.
Commonest clinically apparent form is myelomeningocele (aka open spina bifida), involving a protrusion of the spinal cord and meninges through incomplete vertebra. Meningocele (protrusion of meninges) is a milder form, and spina bifida occulta (incompletely closed vertebrae only) is an asymptomatic finding in 10% of the population.
Most (but not all) cases can be prevented by maternal folic acid use. Increased risk if prior maternal history or pre-existing diabetes.
Affects 1/5,000 births.
Signs and symptoms
Cystic swelling along spine, usually lumbar.
Motor/sensory: leg weakness/paralysis (60% become wheelchair users), bowel and bladder dysfunction.
Brain: hydrocephalus, Chiari II malformations (hindbrain herniation). Intellectual disability rare (20%), but language problems relatively common.
Orthopaedic: clubfoot, scoliosis/kyphosis, hip dislocation, contractures.
Investigations
Usually detected in-utero by US (2nd trimester); also maternal ↑AFP. Many affected fetuses are terminated.
Postnatal: CNS imaging, serial head measurements.
Long-term: repeat urodynamic studies and bladder US.
Management
Surgical closure traditionally done within 48h of birth, but in-utero closure (<26 weeks) has better outcomes and is increasingly available.
Further surgery: repair orthopaedic abnormalities (early after birth), ventriculo-peritoneal shunt for hydrocephalus.
Management of bowel/bladder symptoms: intermittent catheterisation, laxatives, enemas.
Lifelong monitoring and MDT care: paediatrician, specialist nurse, surgeons, physiotherapist, social worker.
Haemolytic disease
Causes, sx, dx, mx, prevention
Causes:
1. Rh Incompatibility (most common):
2. ABO Incompatibility:
Sx:
• Jaundice
• Pallor: Due to anemia.
• Enlarged liver and spleen: The organs work overtime to produce and filter red blood cells.
• Lethargy or poor feeding: Due to the effects of anemia and jaundice.
• Edema or swelling: Seen in cases of hydrops fetalis.
• Severe anemia: May lead to heart failure and respiratory distress.
Dx:
1. Prenatal Testing:
• Blood tests for the mother to check for Rh antibodies (indirect Coombs test).
• Ultrasound may detect early signs of fetal distress, such as hydrops fetalis or organ enlargement.
• Amniocentesis or cordocentesis (sampling of amniotic fluid or fetal blood) may be performed if severe hemolysis is suspected.
2. Postnatal Testing:
• Direct Coombs test (Direct Antiglobulin Test): Checks if the baby’s red blood cells are coated with maternal antibodies, confirming hemolysis.
• Blood tests: Assess hemoglobin levels, bilirubin levels, and reticulocyte count (immature red blood cells) to evaluate the severity of anemia and jaundice.
• Bilirubin levels: Monitored to assess the extent of jaundice and the risk of brain damage (kernicterus).
Mx:
1. Before Birth:
• Intrauterine blood transfusions: For severe cases of anemia, fetal blood transfusions via the umbilical cord may be required to stabilize the fetus.
• Early delivery: In some cases, early delivery may be necessary to prevent further harm to the baby.
2. After Birth:
• Phototherapy: The most common treatment for jaundice. Special blue light helps break down bilirubin in the baby’s skin, making it easier for the body to eliminate.
• Exchange transfusion: For severe anemia or high bilirubin levels, the baby’s blood may be replaced with fresh donor blood to remove maternal antibodies and excess bilirubin.
• Intravenous immunoglobulin (IVIG): May be given to block the antibodies that are attacking the baby’s red blood cells.
• Supportive care: Monitoring and treating complications such as anemia, heart failure, and electrolyte imbalances.
Prevention:
• Rh Immunoglobulin (RhIg or RhoGAM): Administered to Rh-negative mothers during pregnancy and after childbirth (if the baby is Rh-positive) to prevent the development of anti-Rh antibodies. This is highly effective at preventing Rh hemolytic disease in subsequent pregnancies.
• Close monitoring in ABO incompatibility cases: Although ABO incompatibility tends to be milder, babies at risk are monitored closely after birth for signs of jaundice and treated as necessary.
Hepatitis
Causes, sx, dx, mx, prevention
- Infectious Causes:
• Viral infections: The most common cause, and may include viruses such as:
• Hepatitis B and Hepatitis C (transmitted from mother to baby during pregnancy or childbirth).
• Cytomegalovirus (CMV): A common congenital viral infection.
• Herpes simplex virus (HSV): Can cause severe liver damage if transmitted during delivery.
• Rubella, enteroviruses, or parvovirus B19: Less common but still possible.
• Bacterial infections: Sepsis or infections like syphilis can also result in liver inflammation. - Non-Infectious Causes:
• Metabolic disorders: Such as galactosemia, alpha-1 antitrypsin deficiency, or tyrosinemia can affect the liver.
• Genetic conditions: Disorders of bile acid synthesis or transport, which impair bile flow and lead to liver damage.
• Autoimmune hepatitis: Rare in newborns, but antibodies produced by the immune system may attack the liver. - Idiopathic: In some cases, no clear cause is identified, and the condition is termed idiopathic neonatal hepatitis.
Sx:
1. Jaundice: Persistent yellowing of the skin and eyes beyond the typical newborn period (lasting more than 2 weeks), indicating an issue with liver function.
2. Dark urine and pale stools: These signs suggest that the liver is not properly processing bile.
3. Poor feeding and growth: Babies with neonatal hepatitis often have difficulty gaining weight and may fail to thrive.
4. Enlarged liver (hepatomegaly) or spleen (splenomegaly): Detected during physical exams.
5. Bruising or bleeding: In severe cases, due to liver dysfunction and decreased production of clotting factors.
Dx:
1. Blood tests:
• Liver function tests (LFTs): To measure enzymes and bilirubin levels, indicating liver inflammation and bile flow issues.
• Viral tests: To check for infections such as hepatitis B, C, CMV, or herpes.
• Genetic and metabolic screening: To identify underlying metabolic or genetic disorders.
2. Ultrasound: To examine the liver and bile ducts for structural abnormalities.
3. Liver biopsy: May be performed to assess the extent of liver inflammation and damage, and to help identify the cause.
4. Urine and stool tests: To detect metabolic disorders or abnormalities in bile production.
Mx:
1. Supportive care: For cases where no specific treatment is available, management focuses on supporting the infant with nutrition (possibly through high-calorie formulas or tube feeding) and monitoring liver function.
2. Antiviral medications: For viral infections such as herpes or hepatitis B, antiviral medications may be given to control the infection.
3. Nutritional support:
• Vitamin supplements: Fat-soluble vitamins (A, D, E, K) are often given to infants with liver disease because the impaired bile flow affects the absorption of these vitamins.
• High-calorie formulas: To promote growth and prevent malnutrition.
4. Surgery: In cases where a bile duct obstruction is suspected (such as in biliary atresia, which can mimic neonatal hepatitis), surgery may be necessary to restore bile flow.
5. Liver transplant: In severe cases of liver failure or progressive liver disease that does not respond to other treatments, a liver transplant may be necessary.
Prevention:
• Maternal screening: Screening and treatment for infections such as hepatitis B, hepatitis C, and HIV during pregnancy can prevent transmission to the baby.
• Vaccination: The hepatitis B vaccine, given to newborns at birth, can help prevent neonatal hepatitis caused by hepatitis B.
