Paediatrics - Newborn and genetics (6) Flashcards
Give 3 drugs that should be avoided in pregnancy because of teratogenic effects
- Sodium valproate
- Warfarin
- Retinoids
Giving glucorticoids to the mother before preterm delivery accelerates lung maturity. What does this reduce the incidence of?
- Respiratory distress syndrome
- Intraventricular haemorrhage
- Neonatal mortality
If the fetus had a neural tube defect, what protein in the mothers blood would be raised?
Serum alphafetoprotein
How are Downs, Edwards, Patau syndromes screened for?
- Risk estimated from maternal age, maternal fetoplacental hormones and ultrasound nuchal translucency. This is confirmed by amniocentesis or chorionic villous sampling
- NIPT
Give three causes of oligohydromnios
- Reduced fetal urine production - dysplastic or absent kidneys, obstructive uropathy
- PROM
- IUGR
What syndrome is caused by severe oligohydromnios?
Potter syndrome (pulmonary hypoplasia, limb and facial deformities)
What is an Arnold-Chiari malformation, and lemon shaped skull associated with?
Spina bifida
What are the consequences of untreated rhesus haemolytic disease?
Anaemic fetuses who develop hydrops fetalis, oedema and ascites
How is foetal anaemia detected?
Doppler ultrasound (velocimetry of MCA)
Give 3 risk factors for preterm delivery
- Previous preterm infant
- Short inter-pregnancy interval (<6m)
- Extremes of maternal age
- Obesity
- Ethnicity
- Multiple births
- Maternal infection
- Maternal smoking or substance abuse
Give 3 steps to consider in the management of a preterm delivery
- Antenatal corticosteroids
- Antibiotics to reduce risk of chorioamnionitis/ neonatal infection
- Tocolysis - suppress uterine contractions to suppress labour until corticosteroids have had time to work
- Magnesium sulphate - reduces incidence of cerebral palsy
Give three causes of preterm delivery
- Intrauterine stretch
- Intrauterine bleeding (abruption)
- Intrauterine infection
- Fetus (IUGR, malformation)
- Maternal medical conditions - pre-eclampsia, hypertension, UTI)
- Cervical weakness
Give 3 pregnancy related complications of maternal diabetes mellitus
- Polyhydramnios
- Pre-eclampsia
- Congenital malformations
- Increased early fetal loss
- Late unexplained death
- IUGR - microvascular disease!!
- Fetal macrosomia
What are the complications associated with fetal macrosomia?
- Brachial plexus injury
- Cephalopelvic disproportion
- Birth asphyxia
Give 3 neonatal complications of maternal diabetes mellitus
- Hypoglycaemia (common during first day of life - caused by fetal hyperinsulinism)
- Respiratory distress syndrome
- Hypertrophic cardiomyopathy
- Polycythaemia - treat with exchange transfusion
SLE and antiphospholipid syndrome are associated with what pregnancy complications?
- Recurrent miscarriage
- IUGR
- Pre-eclampsia
- Placental abruption
- Preterm delivery
SSRI’s are associated with what complication in the fetus?
Persistent pulmonary hypertension of newborn
Clinical features of fetal alcohol syndrome?
- Growth restriction
- Characteristic facies (saddle shaped nose, absent philantrum, maxillary hypoplasia)
- Developmental delay
- Cardiac defects
What are the clinical signs of drug withdrawal (opiates) in a neonate?
- Jitteriness
- Sneezing
- Yawning
- Poor feeding
- Vomiting
- Diarrhoea
- Seizures
- Weight loss
Pregnancy associated risks of cocaine use?
- Placental abruption
- Preterm delivery
- Irritability and tremor in infant
Give 4 maternal infections which adversely affect the foetus?
- CMV
- Rubella
- Toxoplasma gondii
- Parvovirus
- Varicella zoster6. Syphilis
Rubella infection is most damaging to the foetus at what gestational age and what are the consequences?
8 weeks
Deafness, Congenital heart disease, cataracts in over 80%
The risk to the foetus of rubella infection is minimal after what gestation?
18w
How is maternal rubella infection diagnosed?
Seroconversion on screening serology
What is the most common congenital infection
CMV
What are the consequences of congenital CMV infection?
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
What is the treatment of an infant with CMV
Ganciclovir
Where does toxoplasmosis infection typically come from?
consumption of raw or undercooked meat or contact with cat faeces
What are the consequences of toxoplasmosis infection of the foetus
10% have clinical manifestations such as retinopathy, cerebral calcification and hydrocephalus
Treatment of a child with toxoplasmosis infection
Pyrimethamine and sulfadiazine for 1 year
