Unit 7 Week 2: Pregnancy Flashcards
symptoms of early pregnancy
spotting
missed period
vaginal discharge
nausea/vomiting
food aversion/cravings
breast tenderness
cramps
increased urination: increased blood volume: kidneys processing more liquid
mood changes
bloating
constipation
dysgaisia
severe nausea and vomiting
hyperemesis gravidarum
leads to weight loss, ketosis and dehydration
bloating in pregnancy
progesterone relaxes muscles in womb
allows expansion to grow
dysgaisia
metallic taste in mouth
advice for early pregnancy
eat little and often
dry food
ginger
fluids
anti nausea wristbands?
common genetic conditions
down’s syndrome
Edward’s syndrome
Palau’s syndrome
Down’s syndrome
trisomy 21
extra chromosome
tested using blood test and nuchal translucency on ultrasound
not offered if dating scan is after 14 weeks but blood test offered 14-20 weeks
Edward’s syndrome
trisomy 18
genetic condition caused by extra copy of chromosome
babies with the condition don’t usually survive longer than a week
same screening as Down’s but 20 week scan for physical conditions
patau’s syndrome
trisomy 13
rare genetic disorder caused by additional copy of chromosome 13
some or all body cells
dating scan
ultrasound at around 10-14 weeks
checks how far along you are in pregnancy, babies development and if you’re expecting more than one baby
abnormalities detected at dating scan
downs
Edwards
spina bifida
pataus
anomaly scan
detailed ultrasound 18-21 weeks
checks: bones, heart, brain, spinal cord, face ,kidneys ,abdomen
abnormalities detected at anomaly scan
11 rare conditions
anencephaly
open spina bifida
cleft lip
diaphragmatic hernia
gastroschisis
exomphalos
cardiac abnormalities
bilateral renal agenesis
lethal skeletal dysplasia
Edwards
pataus
nuchal translucency
measures the fluid behind babies neck in 1st trimester
small amount is normal but greater than 3.5mm is abnomrla
can hep calculate babies chances of chromosomal variant
looks at nuchal fold
done at 11-13 weeks when baby is 45mm and 84mm crown to rump
more fluid in nuchal translucency
sign of Edwards, pataus, downs, congenital heart problems
why must nuchal translucency be done 11-13 weeks
as fluid can be reabsorbed by 14 weeks
process of genetic screening
genetic screening
genetic diagnostic test
genetic disorders
family history assessment
genetic screening
how likely the baby will have a condition
genetic diagnostic test
definitive test
genetic disorders
aneuploidy (trisomy and monosomy)
nutations
aneuploidy
abnormal number of chromosomes
trisomy
extra chromosome
monosomy
missing chromosome
2 types of prenatal testing
screening tests and diagnostic tests
genetic screening tests in 1st trimester
screening/ sequential screening/ combined test
cell free fetal DNA screening/ non invasive pre natal testing (NIPT)
carrier screening
screening/ sequential screening/ combined test
2 maternal blood samples and ultrasound
11-13 weeks gestation
ultrasound: nuchal translucency, fetal development and growth
blood tests: pregnancy associated plasma protein A and HCG
PAPP-A, pregnancy associated plasma protein A results
made by placenta
low levels= greater risk of neural tube defects
HCG results
hCG made by placenta
high= greater risk of trisomy 21
low levels= greater risks of trisomy 18
cell free fetal DNA screening, cfDNA/ non-invasive pre natal DNA testing (NIPT)
analyses maternal blood sample for fetal DNA (free-floating DNA that has been broken down will travel into bloodstream)
may detect genetic condition of the mother
done at 10 weeks or later
chromosomal disorders, sex of baby and Rh blood type
positive test= greater risk
carrier screening
blood test/ saliva test/ tissue sample taken from both parents
can identify single gene conditions: cystic fibrosis, sickle cell
find chances of having child with genetic disorder
if blood test shows you’re a carrier then partner should undergo genetic testing
genetic screening tests in 2nd trimesters
maternal blood sample
15/16 weeks
measures alpha-fetoprotein, hcg, estriol, inhibit
alpha-fetoprotein results
produced by fetal liver
present in amniotic fluid
crosses placenta into mothers blood
abnormal levels= abnormal neural tube defects, chromosomal abnormalities, twins
10-150ng/ml is normal
HCG results second trimester
produced by placenta
high = trisomy 21
low= trisomy 18
1400-53,000= normal
estriol (uE3) results
produced by placenta
low= trisomy 21 and 18
5-18ng/ml is normal
inhibin results
produced by placenta
high= trisomy 21
105-522 pg/ml is normal
uses of genetic screening
early detection so parents can make informed decisions and prepare emotionally
improved medical management to support plan and monitor
reduced anxiety/ uncertainty
option for termination if poor QOL for child/impact mother
carrier screening- make informed decisions on having the child, regular check-ups
pharmacogenomics: personalised treatments plans and improve medical efficiency
educate other family members about risk
limitations of genetic screening
ethical: sex selective termination, termination of pregnancy, discrimination, stigmatisation
limited predictive value
false positives
psychological impact on individual/ families: guilt, blame, anxiety
invasive procedures carry a risk
costly
family/societal pressure
method of non-invasive pre-natal screening
take blood sample 6-10ml
invert 10 times immediately and if insufficient volume then discard and retry
store at room temp before transport comes
sent to lab within 2 working days of sample being taken
determine proportion of chromosomes compared to normal range
results available in 10 working days and return as low chance, high chance or no call
low chance NIPT
unlikely the baby will be affected
high chance NIPT
increased likelihood and recommended invasive diagnostic test
no call result NIPT
in very small number of cases the test may not yield a result
what does NIPT test for
downs
Edwards
pataus
eligibility for NIPT
higher chance result in T21 or joint higher result for T18 and T13 from NHS combined test
higher chance result from T21 in NHS quadruple test
in singleton and twin pregnancies, no higher
10 weeks up to 21 weeks and 6 days
when is NIPT not suitable
if you have cancer
received blood transfusion in last 4 months
bone marrow/ organ transplant
immunotherapy
stem cell therapy
vanished twin pregnancy/ empty 2nd pregnancy Sac or second sac containing non-viable foetus
mother has T21, 18 or 13
choosing whether to have screening tests
informed decision
individual differences
cultural and religious factors
do you want to know
will the results influence your behaviour
support
family/societal pressures
impact of results of genetic screening
deciding further tests
choosing whether to continue pregnancy
false positives or negatives
support
challenges of having child with disability
what is medicalisation
process by which some aspects of human life came to be considered as medical problems
whereas before they weren’t considered pathological
includes pregnancy and childbirth
advantages of medicalisation of maternity care
pain prevention methods
unknown factors of how the delivery will go
NICU
dedicated experienced and knowledgeable nursing team
any complications during birth
disadvantages of medicalisation of maternity care
hospital is new and unfamiliar
stressful
may have to sacrifice own birth preferences
limited birth positions
having to choose between visitors present at birth
2 sides of placenta
fetal
maternal
fetal side of the placenta
chorionic plate
covered by amnion
secretes amniotic fluid: protection and exchange
thicker membrane continous with lining of uterine wall
eely in development the plate is covered by chorionic villi adjacent to the decidua capsularies
villi adjacent to the decidua basalis persist increase in size and produce chorion frondosum
maternal side of the placenta
function of the placenta
highly specialised
provides nutrition and oxygen to the foetus
removes waste and carbon dioxide
creates separation between maternal and fetal circulation= placental barrier
protects fetes from infections and other maternal disorders
helps develop fetal immune system
endocrine function: secretes hormones such as HCG that affect: pregnancy, metabolism, fetal growth and parturition
location of the placenta
what is rhesus disease
haemolytic disease
mothers blood is Rh-negative and baby blood is Rh positive
Rh= contains Rh factor protein and negative lacks the protein
pathogenesis/ pathophysiology of rhesus disease
treatments of rhesus disease
Rh immunoglobulin medication
intrauterine transfusion
early deliver y
rh immunoglobulin medication
given to mothers who are Rh negative during pregnancy and after delivery to prevent sensitisation
intrauterine medication
in case where Rh causes severe anaemia
Rh blood transfusion, baby’s umbilical vein to replace damaged blood cells
early delivery
prevent any further damage if baby is at risk of severe anaemia
what is sickle cell anaemia
group of inherited red blood cell disorder
haemoglobin is abnormal
causes RBC to be hard, sticky and C shaped
sickle cells die early and cause constant shortage of RBC
different types of SCD
HbSS, most severe
HbSc
HbS beta thalassemia
HbSS
HbSC
HbS beta thalassemia
normal types of haemoglobin
A and F
haemoglobin A
most common in healthy adults
haemoglobin F
fetal
unborn babies and newborns
replaced with A after birth
abnormal haemoglobin type
S
C
E
haemoglobin S
sickle cell disease
stiff snd sickle shaped
can gert stuck in blood vessels and cause severe and chronic pain
infections and other complications
haemoglobin C
doesnt carry oxygen well
mild form of anaemia
haemoglobin E
mostly found in people with south East Asian descent
normally no symptoms/ mild anaemia symptoms
complications of sickle cell
acute chest syndrome
anaemia
avascular necrosis
blood clots
dactylics
feer
infection
kidney problems
leg ulcers
liver problems
organ damage
pain
priapism
pulmonary hypertension
sleep-disordered breathing
splenic sequestration
stroke
vision loss
acute chest syndrome
life threatening
can result in lung injury
breathing difficulty
low O2
usually caused by infection
medical emergency
avascular necrosis
when bone doesnt get enough hO2
bone tissue can die
investigations to see if mother is a carrier of sickle cell
questionnaire
FBC
haemoglobin electrophoresis
DNA testing
FBC sickle cell
haemoglobin levels
reticulocyte levels: normally low
white blood cells count: ormally low
haemoglobin electrophoresis sickle cell
test for different Hb types
separates the types using electrophoresis: electric current applied to blood sample
appears as different coloured bands
DNA testing sickle cell
Done to test which type of sickle cell you have
When electrophoresis is inconclusive
methods of testing foetal SCD
CVS sampling
chorionic villus sampling
placental DNA at 9-14
amniocentesis
what is CVS
Transabdominal or trans cervical
removing and testing small sample of placental cells
11to 14 weeks
Test for genetic disorders
Risk of miscarriage
types of CVS
transabdominal
transcervical
amniocentesis
Small amount of amniotic fluid is removed from amniotic sac for testing
Contains fetal cells and alpha fetoprotein
To look for birth defects
From week 15
Risk of miscarriage
newborn sickle cell anaemia testing
heel-prick test
part of newborns blood spot test
newborn blood spot test
9 rare but serious conditions
sickle cell disease SCD
cystic fibrosis CF
congenital hypothyroidism CHT
phenylketonuria PKU
medium chain acyl-CoA dehydrogenase deficiency Mac DD
maple syrup urine disease MSUD
isovaleric academia IVA
glutamic acuduria type 1 GAI
role of the community midwife
team of community middwives provide antenatal, intra-natal and post natal care to women and their families
Health promotion and early pregnancy advice
arranging booking appointments and discussing choice on where to give birth
provide antenatal care in local coommnuity, GP surgeries and homes
booking appointment
diet and nutrition advice
role of genetic counsellor
