pregnancy monitoring and screening

Question 1

how do the appointments change with pregnancy numbers?

Answer 1

1st preg - 7 appointments
2nd preg - 5 appointments

Question 2

what happens at 8 week appointment?

Answer 2

-plan of care
-height weight and BMI
-measure BP
urine dipstick for protein
-chesk risk for diabetes and pre-eclampsia
-offer dating and anomaly scan appointments
-asses patient mental health

Question 3

when does the dating scan occur?

Answer 3

11 and 14 weeks
carried out by sonographer
check for baby development and screen for possible genetic conditions
determine age by crown rump length

Question 4

what is the anomaly scan?

Answer 4

20 weeks
detailed ultrasound
-checks physical development
-looks at bones, heart, spinal cord, face, kidneys and abdomen
-looks for spine bifida
-reveal gender
-check for no fingers and toes
last scan if healthy

Question 5

what happens at rotten midwife appointments?

Answer 5

-check BP
-urine for protein
-measure size of uterus
-check position

Question 6

when is full term?

Answer 6

38 weeks

Question 7

what happens after 38 weeks?

Answer 7

weekly appointments

Question 8

generally when will induced labour be offered?

Answer 8

41 weeks

Question 9

what is the blood test between 8 and 12weeks to check for?

Answer 9

HIV
Hep B
syphillis

Question 10

what screening is offered in first 10 weeks?

Answer 10

sickle cell and thallasemia

Question 11

what happens if a mother has diabetes?

Answer 11

will be offered eye screening during pregnancy

Question 12

what is the combined test?

Answer 12

between 10-14 weeks
ultrasound and blood test
checks for downs syndrome
Edward syndrome and Pattile syndrome

Question 13

what is the quadruple test?

Answer 13

can be done up to 20 weeks of pregnancy
looks for Down syndrome only

Question 14

what does the within 3 days physical check for?

Answer 14

heart eyes and hips condition
genitals checked
hearing test done

Question 15

what happens 5 days after birth?

Answer 15

blood spot test
checks for 9 rare but serious conditions

Question 16

what is chorionic villous sampling?

Answer 16

sample from placenta should contain the same chromosome complement as the foetus
-carried out between 11-14 weeks
-1 in 100 risk of miscarriage

Question 17

what is an amniocentesis?

Answer 17

-samples amniotic fluid which contains fetal cells
-cells can be grown in cell culture and fetal chromosomes analysed to determine abnormalities associated with downs syndrome and other disease such as Cf
-carried out later, after 15 weeks
-1% risk of miscarriage
-results in 1 week

Question 18

what is non invasive prenatal testing (NIPT)

Answer 18

-free DNA screening
- cell free fetal DNA migrate into maternal blood stream via apoptotic trophoblast cells shed from placental tissue
-maternal blood test after 10 weeks up to the end of pregnancy
-not suitable for those who had a blood transfusion
-less sensitive for twins
-results in 3-10 days
-carries no risk but not diagnostic

Question 19

what is the first trimester combined screening?

Answer 19

offered between 11 weeks +2d and 14w +1d/ CRL 45-84mm
involves risk calculation of
-nuchal translucency
free BHCG
pregnancy associated plasma protein A

Question 20

how is the risk calculated?

Answer 20

-take the patients age and give them a corresponding risk
-distribution of PAPP-A in unaffected and trisomy 21 affected pregnancy risk figure given
-distribution of fbhCG in unaffected and trisomy 21 affected pregnancy risk figure given
-gestation
-maternal weight
-multiple pregnancies
smoking
ethnicity
IVF
previous Down syndrome pregnancy

Question 21

what happens with the levels of free b-hCG in pregnancy with Down syndrome?

Answer 21

generally higher levels but lots of over lap

Question 22

what happens with the levels of PAPP-A in pregnancy with Down syndrome?

Answer 22

tends to be lower but there is lots of overlap

Question 23

which space tends to be enlarged in patients with Down syndrome?

Answer 23

the nuchal space tends to be bigger
usually >3mm
only seen in the first trimester

Question 24

what are chromosomal anomalies?

Answer 24

any changes to a persons chromosome complement

Question 25

what is the main screening test for chromosomal anomalies?

Answer 25

in the 1st trimester of pregnancy, the combined test which screens for
downs syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
patio’s syndrome (trisomy 13)

Question 26

what does trisomy mean?

Answer 26

patient has 3 copies of a particular gene not just two

Question 27

what are the causes of trisomy?

Answer 27

-95% non disjunction
-4% unbalanced translocation
-1% mosaics with both normal and trisomy 21 cell. non disjunction occurred after fertilisation during mitotic division

Question 28

what is unbalanced translocation?

Answer 28

the extra 21 is attached to another chromosome, commonly chromosome 14

Question 29

what is non-disjunction?

Answer 29

gametes are formed during meiosis. instead of separating into two gametes, aa pair of 21s end up in one gamete. after fertilisation with another gamete each cell will have 3 21

Question 30

what is trisomy 21/ Down syndrome?

Answer 30

-extra chromosome 21
-often pre-term and the infant could be born with serious health issues such as heart defects, bowel defects and ow muscle tone

Question 31

what are the main clinical features of Down syndrome?

Answer 31

learning difficulties
standing eyelids
small nose
large tongue
low set ears and single palmar crease

Question 32

what do patients with mosaic trisomy 21 present as?

Answer 32

milder phenotype and usually have a high IQ

Question 33

what are down syndrome patients at a higher risk of?

Answer 33

-heart conditions
-infections
-leukaemia
-epilepsy (1 in 10)
-GI issues especially constipation
-hypothyroidism
-eyesight and hearing
-lower immune system

Question 34

what is trisomy 18/ Edwards syndrome?

Answer 34

-three copies of chromosome 18
-40% infants die before birth due to underdeveloped bodies
-1 in 20 will have mosaic Edwards syndrome with a milder phenotype and infants may live into adulthood
-one of the main issues is that it shortens life

Question 35

what are the main clinical features of Edwards syndrome?

Answer 35

learning difficulties
low birth weight
decreased muscle tone
low set ears
club feet
overpaying fingers

Question 36

what are some severe side effects of Edwards disease?

Answer 36

congenital heart (90%) and kidney disease, breathing issues, GI defects and hernias
can’t walk or talk and will need constant care

Question 37

why is Edwards disease more serious?

Answer 37

more genes on chromosome 18 than chromosome 21

Question 38

what is trisomy 13/Patau’s syndrome?

Answer 38

-3 copies of chromosome 13
-gnereally not compatible with life after a few weeks after birth
-only 5-10% survive longer than 1yr but they usually have mosaic pataus

Question 39

what are the main clinical features of pataus syndrome?

Answer 39

learning difficulties
microphthalmia
cleft lip and palate
extra digits and low muscle tone
range of organ problems including heart difficulties which are often the cause of death

Question 40

what is turners syndrome?

Answer 40

seen in females
only have one X chromosome
XO

Question 40

what is klinefelters syndrome?

Answer 40

seen in males
have an extra X chromosome

Question 41

what are some clinical features of turners syndrome?

Answer 41

present at birth - neck webbing and lymphedema (not common)
main features are short stature and infertility

Question 41

what are some clinical features od klinefelters syndrome?

Answer 41

-not usually diagnosed until adulthood
reduced IQ
infertility and under developed secondary sexual characteristics
breast development

Question 42

what can be used to diagnose neural tube defects?

Answer 42

ultrasound, alphafeto protein

Question 43

how is pre-eclampsia diagnosed?

Answer 43

hypertension and proteinuria after 20 weeks