Antenatal care, Down's, Abortion Flashcards
antenatal care and screening downs abortion act disability rights
when are the ultrasounds done in pregnancy
10-12 w at booking scan- dating, viability, position
20w at anomoly scan
what is screened for before the booking scan and when
before 10 weeks screen for sickle cell and thalassaemia
what is screened for at the booking scan
10-12 w
infectious diseases: HIV, hep B, syphillis
rhesus disease and anaemia
combined test for Down’s Edward’s, Patau’s
what is the anomoly scan
20w
USS for 12 conditions, including
Edward’s
Patau’s
Cleft lip
Anencephaly
Open Spina bifida
what other tests are performed throughout antenatal care
urine tests
- protein= UTI/ sign pre-eclampsia, esp second half preg
- nitrites= UTI
- sugar= gestational diabetes
blood pressure
- raise= sign pre- eclampsia
anaemia at 28 w and booking
if pre existing diabetes have eye screening
what screens for Down’s, Edward’s, Patau’s
Down’s: combined, quadruple test
Edward’s, Patau’s: Combined, 20w anomoly scan
what/ when is the combined test
offered at booking scan
for between 10-14 w
for Down’s, Ed, Pat
combines blood test, NT, mat age
what does the blood test for the combined test look for
in Down’s:
PAPP-A is low
beta-hCG is raised
what is the ultrasound used for in the combined test
measure nuchal translucency
measures the subcutaneous fluid-filled space between back of spine and skin on neck
in Down’s, NT is raised
why can’t you use nuchal translucency to screen for Down’s after a time
NT increases with gestational age and disappears week 14
probability of a screen positive result in 25yo vs 45yo
25 yo 1 in 100
45yo 1 in 4
When/ why is quadruple test offered
between 15w and 20w
if too late for combined test or baby in wrong position for it
only for Down’s
not as accurate as combined
what is the quadruple test and what does it test for
only a blood test, tests for:
AFP, alpha-fetoprotein, in Down’s = low
uE3, unconjugated oestriol, in Down’s= low
beta hCG= in Down’s= high
inhibin, in Down’s= high
alpha- fetoprotein is made by?
baby
quadruple test also screens for?
spina bifida and anencephaly
alpha-fetoprotein high
what is the role of genetic counselling
genetic counselling is the process of helping people understand and adapt to the medical/psych/familial implications of genetic contributions to disease
what is screening
identifying healthy people who are at increased risk of disease or a condition
examples of requirements of a screening test to be a part of the screening programme
condition should be important
treatment available
diagnostic test or exam available
cost of case-finding economicall balanced in relation to medical care expenditure
what do genetic counsellors do for pts
interpret family and medical hisoties to assess chance of disease occ/recurr
education on inheritance, testing,management
counselling to promote informed choice and adaptation to the risk/condition
info about miscarriage stats
1 in 4 pregnancies miscarry
85% spontaneous miscarriages happen in first trimester
risk factors: age, smoking, obesity, alcohol, drugs
recurrent miscarriage?
1% women will have
= over 3 consecutive miscarriages
reason often unknown
most common genetic causes of miscarriage?
aneuploidy, disrupts cell equilibrium so significantly most not compatible with life
trisomies= 35% all miscarriages before 20w
all autosomal monosomies are lethal
accuracy of screening tests for down’s requirement
screening test must detect 75% of babies with Down’s,
false positives no more than 3%
what if get high risk screening result
invasive testing (or, now on, non invasive)
NIPT
chorionic villus sampling
amniocentesis
why offer further testing after positive screen result
could influence whether abort
help prepare for life w disabled child
may facilitate early intervention/treatment that would influence outcome
what/ when/ risks chorionic villus sampling
chorionic villus sampling performed from 11 weeks
placenta has same genetics as fetus so sample tissue from placenta with ultrasound probe and fine needle through abdomen
—- check genes and chromosomes
miscarriage risk 1% on top of background 2-3%
what/when/ risks amniocentesis
amniocentesis from 15 weeks
amniotic fluid has fetal genetics
sapmple amniotic fluid, ultrasound probe and fine needle, centrifuge, chromosome analysis
what is NIPT
non invasive prenatal screening now offered with NHS if positive screen
= maternal blood test, from 9 weeks, refines T21/T18/T13 risk, reduces need invasive testing
99% plus sensitive for Down’s
how does NIPT work
examines cell free fetal DNA (cffDNA) which is released from placenta and can be detected in mothers blood
most cell free DNA (cfDNA) is mums, 10-20% is cffDNA (fetus’s)
if fetus has Down’s, more chromosome 21 specific DNA in mat circulation
cell fee fetal DNA leaves mum circ after birth so only relevant to current preg
considerations with NIPT
if multiple pregnancies then can’t distinguish
BMI may influence
not as simple as a regular blood test- need counselling and fully informed consent
how does mat age influence Down’s risk
age 25, 1 in 1250 Down’s
age 35, 1 in 350 Down’s
age 40, 1 in 100 Down’s
age 45, 1 in 30 Down’s
(thought that) with age reduced spindle protein levels, leads to instability in chromsomes, to increased likelihod chromosome division uneven, to incr rate chromosomal abnormalities
what causes Down’s syndrome
95% from non-disjunction giving Trisomy 21
2% from Robertsonian translocation, half familial, half de novo
2% gonadal mosaicism (some cells normal some abn)
1% other chromosomal rearrangment
what is Down’s syndrome
trsomy 21 (extra copy of chromosome 21)