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)
distinctive features of Down’s
developmental delay, learning disability
flat facial features
bulging tongue
almond eyes
epicanthal folds
single palmar crease
short neck
hypotonia (decr muscle tone)
health problems assoc with downs
congenital heart defects common
GI problems
hearing and vision
hypothyroidism
suscptible to infection
dementia
autism
spermatogenesis defects males
premature menopause women
70-85% women infertile
most men infertile
lifespan and independence down’s
5% babies don’t survive first year
avg lifespan 60
impact varies, can have good quality life, semi independent
most need significant support
medical termination of preg
‘abortion pill’ tablets to end pregnancy and break down lining of womb
take at home or in hospital, dependent on gestation
up to around 10 weeks
surgical termination of preg
under sedation, local or general anaesthetic
cervix dilated, pregnancy removed by vacuum aspiration or forceps (dilation and evacuation)
on NHS up to 13 weeks,
other providers up to 24 weeks
termination after 21 weeks
surgical maybe
may be necessary to inject fetus with potassium chloride to ensure fetal asystole, induce labour
considerations when having a baby with a disability
longer mat leave
need more family help
prep for birth if high risk
support groups
grief for loss of imagined child
prep sibilings
fear and anger may take away joy of having child
supporting someone whose child will have down’s
give clear, accurate info, in writing
ask they avoid google, use NHS site
give balanced view life with down’s
don’t predict baby’s future with wills/won’ts
recommend formal counselling and support groups
what acts are also in place, alongside abortion act
the offenses against the person act 1861
infant life preservation act 1929
abortion act 1967
human fertilisation and embryology act 1990
offenses against the persons act and infant life preservation act
have not been repealed, still apply, therefore illegal to get/given an abortion outside the criteria of the abortion act
offenses against the persons act- attempt/perform/receive= life sentence, supply meds/ equipment= prison
infant life preservation- for child in process of being born, child destruction if 28w or older unless ot save life of mother
NOT PUT INTO PRACTICE
abortion act
1967
2 registered medical practitioners in good faith opinion:
if less than 24w pregnant- continuing pregnancy greater risk than terminating to phys/mh of woman/children/family
no time limit- to prevent grave permanent injury to phys/mh of woman
continuing preg risks womans life
substantial risk of phys/mental abnormalities child seriously handicapped
what moved the cut off for the time limited abortion
from 28w in abortion act to 24w in human fertilisation and embryology act 1990
other elements of abortion act 1967
must in licensed clinic/hospital
records must be kept- central register with why
any practitioner may conscientously object, unless the womans life is at risk (not required to say why)
who has final say in abortion, how much is dad/other involved
the mother, only the mother
dad has no say
abortion laws in NI
in NI, offenses against the person and infant life act applied until 2020. Abortion act DID NOT, was illegal except to save womans life
in March 2020, The abortion regulations
the abortion regulations NI
up to 12 w on request by a doctor in a clinic if believed under 12w
12-24 w if 2 Drsfeel necessary to protect mh/phys of woman
unlimited- to save womans life, avoid risk to life/grave injury, severe impairment
conscientous objection to abortion
doctor must explain do not provide abortions, not why.
give support and info, refer to another practitioner
can you get an abortion for down’s
yes, could under severe handicap clause
however, may be subject to change as disability groups are against this, down’s not always severe etc. this would have impact on screening
what do you call a child you cannot talk and how may they communicate
children who cant talk= non-verbal, communicate by other means such as alternative and augmentative communication (AAC)
non-verbal may be developmental or acquired, temporary or permanent, variety of causes
types of AAC
no equipment- makaton (symbols, signs, speech), nodding, signing
low tech- communication chart with pics and words
high tech- activated by child’s movement (point, touch, scanning, eye contact, head mvmt) to select word/pic/letter into electronic voice
tips for consultations with non-verbal children
use triadic consultations
plan ahead- gather info about how they communicate
allow extra time
consider the space
don’t assume life is awful for parent
take lead from parent, ask for their help
reasonable adjustments for learning disabilities 5 examples
extra time for appt/split in two to process info
make info accessible, try send it in advamce
check for understanding
offer first or last day of appt
demonstrate phys exam on self or carer
read their history/ hospital passport
social model of disability
dev by disability rights mvmt in 1970s, distinguishes impairment and disability
was initially for those w physical and sensory impairments, expanded to include intellectual and developmental impairments
impairment and disability as considered by social model
impairment= loss or lack of functioning part of body
disability= meaning society attaches to presence of impairment, disability is the loss or limitation of opportunities to take part in normal life on equal level as those without impairments
how do biomedical models of disability see impairment and disability
person is impaired so difficulties are the direct and inevitable consequence of bio and psych impairment
what are the 3 care groups that deliver antenatal care and what do they do
Midwives- booking, check ups, most pregnancy care, give info
GP- community care for minor conditions of pregnancy
OB- specialist care in high risk pregnancies
how does antenatal care differ on how many children you have had
if 1st pregnancy seen 10 times by midwife + anomolu scan
if 2nd preg seen 7 times + anomoly scan
what are the 4 phases of antenatal care and what do they include
1st trimester 0-12 w
booking scan, risk assessment, screening
2nd trimester
Fetal anomoly assessment (20w scan)
3rd trimester
fetal growth assessment, ob complication screening, delivery
Puerperium
delivery to 4 w
breastfeeding, recovery, neonatal care
all women will have at least 2 hospital visits- booking and 20w scan
purpose of maternity care
identify complications by checking
- bp
- urine screen
- USS 12 and 20 weeks
- fetal growth with tape measure
for screening
health education
planning for labour and care of newborn
what happens in 1st trimester antenatal care
at 10-12 weeks have booking scan
midwife takes medical and pregnancy histories, bp, urine sample, blood tests
Ultrasound dating scan- confirm location and number of fetus and viability (heartbeat)
fetal heartbeat visible USS as flicker from week 6.5
combined test!! USS, mat age, blood test (screen down’s, edward’s, patau’s)
test for active infections that could be passd on ie HIV, hep B, syphyllis, rhesus disease
what happens in 2nd trimester antenatal care
20 week anomoly scan
USS for structural abormalities
what happens in 3rd trimester antenatal care
bp and urine samples to screen pre-eclampsia
check for fetal growth restriction- if low risk w tape if high risk with USS
how do ultrasound scans work
high frequency sound waves sent in pulses, reflected off tissue interfaces
level of reflection dependent on tissue density
2D= flat 3D= computer remodels 2D to 3D 4D= 3D with movement
home birth stats
less than 5% births happen at home
risk of baby facing harm 1.75% higher in first time mothers delivering at home vs in hospital
4/10 times for first time mums must transfer to hospital, less so for 2nd time
best to choose location on risk potential and number prev pregnancies
pregnancy outcomes 1st trimester
20% miscarry
80% of eggs in women over 40 have chromosomal defects
vs 17% in women in 20s
pregnancy outcomes 2nd trimester
1% miscarry
4% fetal abnormalities
pregnancy outcomes 3rd trimester
lowest risk period
1% born prematurely at 28 weeks
1 in 225 stillborn
UK stillbirth and death within 28 days has…
more than halved in last 40 years,
now 5.5/1000
what is behind 50% stillbirths
fetal growth restriction
failure to reach genetic growth potential
affects 5% pregnancies
75% cases are missed
leads to preterm birth, neonatal morbidity, lifelong diability
how does risk of maternal death vary across countries
risk of maternal death is much much much higher in lesser developed countries
somalia 1 in 15
UK 1 in 5000
norway 1 in 8000
what are the most common causes of maternal deaths
heart disease
blood clots
epilepsy or stroke
sepsis
how is mat mortality reduced
hygeine
haemorrage management
antenatal care to identify complications
c-section
antibiotics
blood pressure treatment
ethnic differences in maternal deaths
4-5 times as many black women die in childbirth than their proportion of mothers who gave birth
how are pregnancy demographics changing
5 times as many women given birth over the age of 40 compared to 20 years ago
why take folic acid
take whilst trying to conceive until 12 weeks
aids the development of neural tubes so helps prevent birth defects like spina bifida
leafy greens natural source but difficult to get optimal amount
what does social support have beneficial effects on
mental health
fetal weight
progress in labour
longterm inflamm markers at 3 months
AGPAR scores at birth
continuous support in labour improves outcomes for both
What screening is offered after baby is born
Heel prick test Hearing Physical exam
What/ when is heel prick test
5 days old newborn Prick heel, draw 4 drops blood onto card Screens for 9 rare conditions including Sickle cell Cystic fibrosis PKU
What/ when newborn physical exam
Within 72hrs after birth A 2nd exam offered 6-8 weeks at GP Checks eyes, hearts, hips, testicles, general check
Newborn hearing check
Before discharge if hospital, wishing first couple weeks by health visitor if home. Finding out early gives better chance of child developing language/communication/speech as non hearing greatly influences dev
