Screening Flashcards
The newborn blood spot screening tests for 9 serious health conditions, what are these?
Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism
(metabolic conditions:) PKU Maple syrup urine disease MCADD IVA GA1 HCU
what screening is offered between 11-14 weeks of pregnancy?
the combined test
looks for down’s, edward’s and patau’s syndrome
blood test and nuchal translucency (during ultrasound)
if the combined screening test cannot be done…
quadruple test can be offered up to 20 weeks
is blood test alone
can test only for Down’s syndrome (Edward’s and Patau’s may be picked up on 20 week scan, however)
(combined test may not be suitable due to later gestation, high BMI, fetal lie)
the 20 week scan (or anatomy scan, or detailed anomaly scan) looks for how many physical conditions?
11
including spina bifida, cleft lip, skeletal dysplasia
(looks in detail at baby’s brain, heart, spinal cord, bones, kidneys etc)
the 20 week scan is roughly performed…
at 18-21 weeks
NIPE stands for…
newborn and infant physical examination
(looks at eyes, heart, hips and genitals)
should occur once again at GP between 6-8 weeks
a NIPE should be carried out…
within 72 hours of birth
a hearing test for baby should occur before…
3 months old, but ideally before 4-5 weeks
likely to be at hospital
a newborn blood spot test should occur on day…
5
what is a NIPT?
‘non-invasive prenatal test’
will be offered if a high chance result occurs from screening
generates risk baby has genetic abnormalities
tests placental DNA in mother’s blood
what are some forms of invasive testing that can be offered post screening?
CVS: a fine needle put into mother’s abdomen, collects tissue from placenta, cells tested
Aminocentesis: fine needle inserted into uterus to collect sample of amniotic fluid (which contains cells from fetus)
CVS:
chorionic villus sampling
usually 11-14 weeks of pregnancy
fine needle inserted into abdomen to take tissue from placenta
cells are tested for Down’s, Edward’s and Patau’s
at what gestation can CVS and amniocentesis occur?
CVS/chorionic villus sampling: 11-14 weeks
amniocentesis: after 15 weeks
blood test screening for infectious diseases and haemoglobinopathies results are explained at…
16 week appointment
screening tests vs diagnostic tests:
screening gives a chance of having a health problem
diagnostic tests produce more certain results
the infectious diseases screened for in a blood test include:
HIV
hepatitis B
syphilis
what is the plan of care if a woman has hepatitis B and is pregnant?
can lead to liver infections and cancers if not treated
mother, mother’s partner and family should all be tested, treatment for mother depends on how long she has been infected for - may include antiviral medication for example
baby should have 6 vaccinations to protect itself:
within 24 hours of birth, at 4 weeks old, 8 weeks old, 12 weeks old, 16 weeks old and at one year of age
if a mother has hepatitis B, her baby should be vaccinated how many times and when?
6 times:
24 hours old 4 weeks 8 weeks 12 weeks 16 weeks 1 year old
the chances of HIV being passed onto baby are greatly reduced by…
specialist care and treatment identification early medication planned care for birth not breastfeeding
(reduction from 25% chance to 0.5% chance)
treatment in pregnancy can reduce HIV transmission from 25% to…
0.5% chance
if syphilis is not treated in pregnancy, it can lead to…
increased chances of miscarriage and stillbirth
health conditions for baby after birth: severe anaemia, meningitis, jaundice, nerve problems: causing blindness or deafness
if a woman is detected to have syphilis…
referral to specialist team is urgently required
treatment will be course of antibiotics that are safe for baby
baby will have further blood tests after birth and may need further antibiotics
partner should also be tested
sickle cell disease vs thalassaemia:
both haemoglobinopathies / blood disorder
sickle cell: unusual shaped RBC meaning the body finds in harder to carry oxygen (anaemic), and blood vessels can become blocked. Have severe pain attacks and limits quality of life
thalassaemia: produce very little RBC, need constant blood transfusions every 3-5 weeks throughout their lives
haemoglobin diseases are more common in…
those with ancestors from Africa, Caribbean, India and Pakistan, South East Asia, Middle East, the Mediterranean
and in those who live in areas of the UK that have high levels
booking bloods should ideally be taken…
before 10 weeks gestation
at latest 12 weeks
Trisomy 21:
Down’s syndrome
varying levels of learning disability:
communication challenges and difficulty managing day to day tasks.
increased chance of heart conditions and problems with vision and hearing
5% die before first birthday
Trisomy 18:
Edward’s syndrome
increased chance of heart conditions, breathing difficulties and infections. Will be unlikely to feed without tube
only palliative care offered
only 13% will live past 1st birthday
Trisomy 13:
Patau’s syndrome
have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers or toes, often have cleft lip or palette
only palliative care offered
only 11% will live past first birthday
when does the anatomy scan take place?
between 18 and 20+6 gestation
known as the 20 week scan
Spina bifida will be picked up on 20 week scan…
90% of the time
for example, heart defects will only be picked up 50% of the time
20 week scan looks for 11 physical conditions along with generally…
the fetus’ bones, heart, brain, kidneys, spinal cord, face and abdomen
a 20 week scan may incur difficulty due to…
fetal lie
high BMI
(further scan can be offered at 23 weeks)
Congenital Hypothyroidism (NBBS):
occurs in 1 in 2000
do not have enough of the hormone thyroxine
can be treated with thyroxine tablets if detected early which allows baby to develop normally
Cystic Fibrosis (NBBS):
occurs in 1 in 2,500 babies
affects digestion and lungs
early treatment is vital
metabolic disorders (NBBS):
e.g. PKU, maple syrup urine disease
cannot process certain substances in food
can be treated by diet and certain medications
screening for infectious diseases can be offered at what gestation if initially declined?
20 weeks
the combined screening test occurs…
between 11-14 weeks
though bloods can be taken from 10
newborn screening information should be discussed…
28 weeks onwards
newborns who miss their NBBS can be tested…
up to year after
except for CF, screening only offered up to 8 weeks
the first diabetic eye scan should occur…
before 12 weeks
a follow up between 16-20 weeks
