Screening Flashcards
What is a haemoglobinopathy?
Screening test to detect sickle cell/ thalassaemia carriers
Who is screened for sickle cell/ thalassaemia in pregnancy?
Mothers and/or fathers from high risk countries, identified using the family origin questionnaire
How is sickle cell/ thalassaemia inherited?
Both recessive disorders, so both parents must have the disease/ be carriers to pass it on
What is sickle cell disease?
A group of conditions that involves the malformation of RBC
What is the most serious condition that sickle cell disease causes?
Sickle cell anaemia
What are some symptoms that sickle cell disease can cause?
- Chronic anaemia
- Jaundice
- Painful crisis
- Organ damage
- Infections
- Strokes
What is thalassaemia?
A group of conditions affecting Hb production
What is alpha thalassaemia major?
- Affects the body’s ability to produce alpha globin
- ‘Major’ type is life-threatening
What is beta thalassaemia major?
- Affects the body’s ability to produce beta globin
- Causes severe anaemia requiring blood transfusions every 3-6 weeks
- Compatible with life
What are some of the complications of thalassaemia?
- Excess iron (resulting in damage to heart, liver and endocrine system)
- Bone deformities
- Enlarged spleen (can worsen anaemia)
- Infection
- Slow growth rate
What are the symptoms of thalassaemia?
- Fatigue/ SOB
- Jaundice
- Irritability
- Deformed facial bones
- Dark urine
Which infectious diseases are screening for in pregnancy?
- HIV
- Hep B
- Syphilis
What is HIV?
- Human Immunodeficiency Virus
- Can result in AIDS if untreated
- Causes immune suppression and infections
How is HIV transmitted?
- Sexual contact
- Contact with contaminated blood products
- Mother to child during pregnancy, delivery or BF
What is the management for HIV?
- Urgent referral to HIV MDT
- Anti-retroviral therapy
- Avoid BF
What is Hepatitis B?
- Viral infection of the liver
- Long term, can cause cirrhosis and cancer of the liver
How is Hep B transmitted?
- Sexual contact
- Contaminated blood
What is the management for Hep B?
- Baby vaccinations
- Referral to liver specialist/ Gastroenterologist/ infectious diseases physician
When should the baby be vaccinated for Hep B?
- Within 24 hours of birth
- 4 weeks
- 8 weeks
- 12 weeks
- 16 weeks
- 1 year
What is Syphilis?
Bacterial infection acquired during unprotected sex
What are the adverse effects of Syphilis?
- Affects baby’s neurological development
- Affects baby’s bones, teeth, vision and hearing
- Increased risk of miscarriage, stillbirth and LBW
What is the management for Syphilis?
- Maternal antibiotics
- Referral to genitourinary medicine
- NNN and paed NIPE
What vaccine should not be given in pregnancy?
MMR
What vaccine should be advised in pregnancy?
- Flu
- Whooping cough
What does the NBBS test for?
- Sickle cell/ thalassaemia
- Hypothyroidism
- CF
- Phenylketonuria
- MCADD
- Maple syrup urine disease
- Isovaleric acidaemia
- Glutaric Aciduria
- Homocystinuria
Describe hypothyroidism
- Lack of thyroxine
- Can cause serious physical and mental disabilities
- Treatment with thyroxine tablets
Describe cystic fibrosis
- Impaired lung function and pancreatic insufficiency
- Sticky mucus secretions cause digestive problems, recurrent chest infections and lung damage
- Treated with diet, medication and physiotherapy
Describe phenylketonuria
- Unable to break down phenylalanine which can cause serious mental disability
- Treated with strictly controlled diet
Describe MCADD
- Difficulty breaking down fat into energy
- Serious life-threatening symptoms if not feeding well
- Avoid fasting and monitor frequency of meals
- Frequent glucose polymer drinks
Describe maple syrup urine disease, isovaleric acidaemia, glutaric aciduria and homocystinuria
- Difficulty breaking down amino acids
- Symptoms include poor feeding, vomiting and lethargy
- Can lead to brain damage/ death
- Treated with special low protein diet
What is combined screening?
- Tests for Down’s, Edward’s and Patau’s
- Uses clinical info, crown rump length, nuchal translucency and blood tests
What is quadruple screening?
- Done in 2nd trimester
- Tests for Down’s only
What are diagnostic tests?
- Carried out on women who have a high risk screening result at 12/40
- CVS and Amniocentesis
- Risk of miscarriage
What is CVS?
- Chorionic villus sampling
- Needle passed through abdomen into placenta under USS guidance
- Small fragments of placental tissue aspirated and analysed
What is an Amniocentesis?
- Needle passed through abdomen into amniotic sac under USS guidance
- Small sample of amniotic fluid removed and analysed
What must be done after diagnostic testing?
Give anti-D if woman is rhesus negative
When should a NIPE be carried out?
Within 72 hours of birth and then repeated at 6 week GP check
What are some of the congenital abnormalities that a NIPE may detect?
- Congenital heart disease
- Hip dysplasia
- Cataracts
- Cryptorchidism
When should hearing screening be carried out?
Within 5 weeks of birth
What are the 2 main types of hearing loss?
- Conductive
- Sensory neural
What is conductive hearing loss?
- Caused by blockage of outer/middle ear
- Usually temporary
What is sensory neural hearing loss?
- Caused when cochlea (sensory) or hearing nerve (neural) are not functioning effectively
- Permanent hearing loss
What are some causes of sensory neural hearing loss?
- Genetic
- Maternal infection
- Hypoxia
- Childhood infection (e.g. mumps, meningitis)
How long does it usually take for the NBBS results to come back?
10-14 days
What might glucose on urinalysis indicate?
- Diabetes
- 2x = organise SGTT
- May be high if just eaten - advise to do sample before eating
What might ketones on urinalysis indicate?
- Dehydration/ hunger
What might protein on urinalysis indicate?
- Preeclampsia/UTI
- Ask about other symptoms
What might leukocytes/bacteria on urinalysis indicate?
Infection
