pregnancy monitoring and screening Flashcards
how do the appointments change with pregnancy numbers?
1st preg - 7 appointments
2nd preg - 5 appointments
what happens at 8 week appointment?
-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
when does the dating scan occur?
11 and 14 weeks
carried out by sonographer
check for baby development and screen for possible genetic conditions
determine age by crown rump length
what is the anomaly scan?
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
what happens at rotten midwife appointments?
-check BP
-urine for protein
-measure size of uterus
-check position
when is full term?
38 weeks
what happens after 38 weeks?
weekly appointments
generally when will induced labour be offered?
41 weeks
what is the blood test between 8 and 12weeks to check for?
HIV
Hep B
syphillis
what screening is offered in first 10 weeks?
sickle cell and thallasemia
what happens if a mother has diabetes?
will be offered eye screening during pregnancy
what is the combined test?
between 10-14 weeks
ultrasound and blood test
checks for downs syndrome
Edward syndrome and Pattile syndrome
what is the quadruple test?
can be done up to 20 weeks of pregnancy
looks for Down syndrome only
what does the within 3 days physical check for?
heart eyes and hips condition
genitals checked
hearing test done
what happens 5 days after birth?
blood spot test
checks for 9 rare but serious conditions
what is chorionic villous sampling?
sample from placenta should contain the same chromosome complement as the foetus
-carried out between 11-14 weeks
-1 in 100 risk of miscarriage
what is an amniocentesis?
-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
what is non invasive prenatal testing (NIPT)
-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
what is the first trimester combined screening?
offered between 11 weeks +2d and 14w +1d/ CRL 45-84mm
involves risk calculation of
-nuchal translucency
free BHCG
pregnancy associated plasma protein A
how is the risk calculated?
-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
what happens with the levels of free b-hCG in pregnancy with Down syndrome?
generally higher levels but lots of over lap
what happens with the levels of PAPP-A in pregnancy with Down syndrome?
tends to be lower but there is lots of overlap
which space tends to be enlarged in patients with Down syndrome?
the nuchal space tends to be bigger
usually >3mm
only seen in the first trimester
what are chromosomal anomalies?
any changes to a persons chromosome complement
what is the main screening test for chromosomal anomalies?
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)
what does trisomy mean?
patient has 3 copies of a particular gene not just two
what are the causes of trisomy?
-95% non disjunction
-4% unbalanced translocation
-1% mosaics with both normal and trisomy 21 cell. non disjunction occurred after fertilisation during mitotic division
what is unbalanced translocation?
the extra 21 is attached to another chromosome, commonly chromosome 14
what is non-disjunction?
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
what is trisomy 21/ Down syndrome?
-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
what are the main clinical features of Down syndrome?
learning difficulties
standing eyelids
small nose
large tongue
low set ears and single palmar crease
what do patients with mosaic trisomy 21 present as?
milder phenotype and usually have a high IQ
what are down syndrome patients at a higher risk of?
-heart conditions
-infections
-leukaemia
-epilepsy (1 in 10)
-GI issues especially constipation
-hypothyroidism
-eyesight and hearing
-lower immune system
what is trisomy 18/ Edwards syndrome?
-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
what are the main clinical features of Edwards syndrome?
learning difficulties
low birth weight
decreased muscle tone
low set ears
club feet
overpaying fingers
what are some severe side effects of Edwards disease?
congenital heart (90%) and kidney disease, breathing issues, GI defects and hernias
can’t walk or talk and will need constant care
why is Edwards disease more serious?
more genes on chromosome 18 than chromosome 21
what is trisomy 13/Patau’s syndrome?
-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
what are the main clinical features of pataus syndrome?
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
what is turners syndrome?
seen in females
only have one X chromosome
XO
what is klinefelters syndrome?
seen in males
have an extra X chromosome
what are some clinical features of turners syndrome?
present at birth - neck webbing and lymphedema (not common)
main features are short stature and infertility
what are some clinical features od klinefelters syndrome?
-not usually diagnosed until adulthood
reduced IQ
infertility and under developed secondary sexual characteristics
breast development
what can be used to diagnose neural tube defects?
ultrasound, alphafeto protein
how is pre-eclampsia diagnosed?
hypertension and proteinuria after 20 weeks
