Screening

Question 1

The newborn blood spot screening tests for 9 serious health conditions, what are these?

Answer 1

Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism

(metabolic conditions:)
PKU
Maple syrup urine disease
MCADD
IVA
GA1
HCU

Question 2

what screening is offered between 11-14 weeks of pregnancy?

Answer 2

the combined test
looks for down’s, edward’s and patau’s syndrome
blood test and nuchal translucency (during ultrasound)

Question 3

if the combined screening test cannot be done…

Answer 3

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)

Question 4

the 20 week scan (or anatomy scan, or detailed anomaly scan) looks for how many physical conditions?

Answer 4

11
including spina bifida, cleft lip, skeletal dysplasia

(looks in detail at baby’s brain, heart, spinal cord, bones, kidneys etc)

Question 5

the 20 week scan is roughly performed…

Answer 5

at 18-21 weeks

Question 6

NIPE stands for…

Answer 6

newborn and infant physical examination
(looks at eyes, heart, hips and genitals)
should occur once again at GP between 6-8 weeks

Question 7

a NIPE should be carried out…

Answer 7

within 72 hours of birth

Question 8

a hearing test for baby should occur before…

Answer 8

3 months old, but ideally before 4-5 weeks

likely to be at hospital

Question 9

a newborn blood spot test should occur on day…

Answer 9

5

Question 10

what is a NIPT?

Answer 10

‘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

Question 11

what are some forms of invasive testing that can be offered post screening?

Answer 11

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)

Question 12

CVS:

Answer 12

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

Question 13

at what gestation can CVS and amniocentesis occur?

Answer 13

CVS/chorionic villus sampling: 11-14 weeks

amniocentesis: after 15 weeks

Question 14

blood test screening for infectious diseases and haemoglobinopathies results are explained at…

Answer 14

16 week appointment

Question 15

screening tests vs diagnostic tests:

Answer 15

screening gives a chance of having a health problem

diagnostic tests produce more certain results

Question 16

the infectious diseases screened for in a blood test include:

Answer 16

HIV
hepatitis B
syphilis

Question 17

what is the plan of care if a woman has hepatitis B and is pregnant?

Answer 17

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

Question 18

if a mother has hepatitis B, her baby should be vaccinated how many times and when?

Answer 18

6 times:

24 hours old
4 weeks
8 weeks
12 weeks
16 weeks
1 year old

Question 19

the chances of HIV being passed onto baby are greatly reduced by…

Answer 19

specialist care and treatment
identification early
medication
planned care for birth
not breastfeeding

(reduction from 25% chance to 0.5% chance)

Question 20

treatment in pregnancy can reduce HIV transmission from 25% to…

Answer 20

0.5% chance

Question 21

if syphilis is not treated in pregnancy, it can lead to…

Answer 21

increased chances of miscarriage and stillbirth

health conditions for baby after birth: severe anaemia, meningitis, jaundice, nerve problems: causing blindness or deafness

Question 22

if a woman is detected to have syphilis…

Answer 22

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

Question 23

sickle cell disease vs thalassaemia:

Answer 23

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

Question 24

haemoglobin diseases are more common in…

Answer 24

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

Question 25

booking bloods should ideally be taken...

Answer 25

before 10 weeks gestation | at latest 12 weeks

Question 26

Trisomy 21:

Answer 26

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

Question 27

Trisomy 18:

Answer 27

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

Question 28

Trisomy 13:

Answer 28

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

Question 29

when does the anatomy scan take place?

Answer 29

between 18 and 20+6 gestation known as the 20 week scan

Question 30

Spina bifida will be picked up on 20 week scan...

Answer 30

90% of the time for example, heart defects will only be picked up 50% of the time

Question 31

20 week scan looks for 11 physical conditions along with generally...

Answer 31

the fetus' bones, heart, brain, kidneys, spinal cord, face and abdomen

Question 32

a 20 week scan may incur difficulty due to...

Answer 32

fetal lie high BMI (further scan can be offered at 23 weeks)

Question 33

Congenital Hypothyroidism (NBBS):

Answer 33

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

Question 34

Cystic Fibrosis (NBBS):

Answer 34

occurs in 1 in 2,500 babies affects digestion and lungs early treatment is vital

Question 35

metabolic disorders (NBBS):

Answer 35

e.g. PKU, maple syrup urine disease cannot process certain substances in food can be treated by diet and certain medications

Question 36

screening for infectious diseases can be offered at what gestation if initially declined?

Answer 36

20 weeks

Question 37

the combined screening test occurs...

Answer 37

between 11-14 weeks | though bloods can be taken from 10

Question 38

newborn screening information should be discussed...

Answer 38

28 weeks onwards

Question 39

newborns who miss their NBBS can be tested...

Answer 39

up to year after | except for CF, screening only offered up to 8 weeks

Question 40

the first diabetic eye scan should occur...

Answer 40

before 12 weeks a follow up between 16-20 weeks