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Phase 3A Medicine > Paediatrics - Newborn and genetics (6) > Flashcards

Paediatrics - Newborn and genetics (6) Flashcards

1
Q

Give 3 drugs that should be avoided in pregnancy because of teratogenic effects

A
  1. Sodium valproate
  2. Warfarin
  3. Retinoids
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2
Q

Giving glucorticoids to the mother before preterm delivery accelerates lung maturity. What does this reduce the incidence of?

A
  1. Respiratory distress syndrome
  2. Intraventricular haemorrhage
  3. Neonatal mortality
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3
Q

If the fetus had a neural tube defect, what protein in the mothers blood would be raised?

A

Serum alphafetoprotein

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4
Q

How are Downs, Edwards, Patau syndromes screened for?

A
  1. Risk estimated from maternal age, maternal fetoplacental hormones and ultrasound nuchal translucency. This is confirmed by amniocentesis or chorionic villous sampling
  2. NIPT
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5
Q

Give three causes of oligohydromnios

A
  1. Reduced fetal urine production - dysplastic or absent kidneys, obstructive uropathy
  2. PROM
  3. IUGR
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6
Q

What syndrome is caused by severe oligohydromnios?

A

Potter syndrome (pulmonary hypoplasia, limb and facial deformities)

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7
Q

What is an Arnold-Chiari malformation, and lemon shaped skull associated with?

A

Spina bifida

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8
Q

What are the consequences of untreated rhesus haemolytic disease?

A

Anaemic fetuses who develop hydrops fetalis, oedema and ascites

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9
Q

How is foetal anaemia detected?

A

Doppler ultrasound (velocimetry of MCA)

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10
Q

Give 3 risk factors for preterm delivery

A
  1. Previous preterm infant
  2. Short inter-pregnancy interval (<6m)
  3. Extremes of maternal age
  4. Obesity
  5. Ethnicity
  6. Multiple births
  7. Maternal infection
  8. Maternal smoking or substance abuse
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11
Q

Give 3 steps to consider in the management of a preterm delivery

A
  1. Antenatal corticosteroids
  2. Antibiotics to reduce risk of chorioamnionitis/ neonatal infection
  3. Tocolysis - suppress uterine contractions to suppress labour until corticosteroids have had time to work
  4. Magnesium sulphate - reduces incidence of cerebral palsy
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12
Q

Give three causes of preterm delivery

A
  1. Intrauterine stretch
  2. Intrauterine bleeding (abruption)
  3. Intrauterine infection
  4. Fetus (IUGR, malformation)
  5. Maternal medical conditions - pre-eclampsia, hypertension, UTI)
  6. Cervical weakness
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13
Q

Give 3 pregnancy related complications of maternal diabetes mellitus

A
  1. Polyhydramnios
  2. Pre-eclampsia
  3. Congenital malformations
  4. Increased early fetal loss
  5. Late unexplained death
  6. IUGR - microvascular disease!!
  7. Fetal macrosomia
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14
Q

What are the complications associated with fetal macrosomia?

A
  1. Brachial plexus injury
  2. Cephalopelvic disproportion
  3. Birth asphyxia
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15
Q

Give 3 neonatal complications of maternal diabetes mellitus

A
  1. Hypoglycaemia (common during first day of life - caused by fetal hyperinsulinism)
  2. Respiratory distress syndrome
  3. Hypertrophic cardiomyopathy
  4. Polycythaemia - treat with exchange transfusion
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16
Q

SLE and antiphospholipid syndrome are associated with what pregnancy complications?

A
  1. Recurrent miscarriage
  2. IUGR
  3. Pre-eclampsia
  4. Placental abruption
  5. Preterm delivery
17
Q

SSRI’s are associated with what complication in the fetus?

A

Persistent pulmonary hypertension of newborn

18
Q

Clinical features of fetal alcohol syndrome?

A
  1. Growth restriction
  2. Characteristic facies (saddle shaped nose, absent philantrum, maxillary hypoplasia)
  3. Developmental delay
  4. Cardiac defects
19
Q

What are the clinical signs of drug withdrawal (opiates) in a neonate?

A
  1. Jitteriness
  2. Sneezing
  3. Yawning
  4. Poor feeding
  5. Vomiting
  6. Diarrhoea
  7. Seizures
  8. Weight loss
20
Q

Pregnancy associated risks of cocaine use?

A
  1. Placental abruption
  2. Preterm delivery
  3. Irritability and tremor in infant
21
Q

Give 4 maternal infections which adversely affect the foetus?

A
  1. CMV
  2. Rubella
  3. Toxoplasma gondii
  4. Parvovirus
  5. Varicella zoster6. Syphilis
22
Q

Rubella infection is most damaging to the foetus at what gestational age and what are the consequences?

A

8 weeks

Deafness, Congenital heart disease, cataracts in over 80%

23
Q

The risk to the foetus of rubella infection is minimal after what gestation?

A

18w

24
Q

How is maternal rubella infection diagnosed?

A

Seroconversion on screening serology

25
Q

What is the most common congenital infection

A

CMV

26
Q

What are the consequences of congenital CMV infection?

A

90% will have no consequences
5% will have clinical features at birth eg. hepatosplenomegaly or petechiae and will og on to have neurodevelopmental consequences e.g. sensorineural hearing loss and cerebral palsy, epilepsy
5% will have problems later in life e.g. sensorineural hearing loss

27
Q

What is the treatment of an infant with CMV

A

Ganciclovir

28
Q

Where does toxoplasmosis infection typically come from?

A

consumption of raw or undercooked meat or contact with cat faeces

29
Q

What are the consequences of toxoplasmosis infection of the foetus

A

10% have clinical manifestations such as retinopathy, cerebral calcification and hydrocephalus

30
Q

Treatment of a child with toxoplasmosis infection

A

Pyrimethamine and sulfadiazine for 1 year

Phase 3A Medicine (12 decks)

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