Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Medicine: PBL wrap-ups > Unit 7 Week 2: Pregnancy > Flashcards

Unit 7 Week 2: Pregnancy Flashcards

(89 cards)

Start Studying
1
Q

symptoms of early pregnancy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

severe nausea and vomiting

A

hyperemesis gravidarum
leads to weight loss, ketosis and dehydration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

bloating in pregnancy

A

progesterone relaxes muscles in womb
allows expansion to grow

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

dysgaisia

A

metallic taste in mouth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

advice for early pregnancy

A

eat little and often
dry food
ginger
fluids
anti nausea wristbands?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

common genetic conditions

A

down’s syndrome
Edward’s syndrome
Palau’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Down’s syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Edward’s syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

patau’s syndrome

A

trisomy 13
rare genetic disorder caused by additional copy of chromosome 13
some or all body cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

dating scan

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

abnormalities detected at dating scan

A

downs
Edwards
spina bifida
pataus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

anomaly scan

A

detailed ultrasound 18-21 weeks
checks: bones, heart, brain, spinal cord, face ,kidneys ,abdomen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

abnormalities detected at anomaly scan

A

11 rare conditions
anencephaly
open spina bifida
cleft lip
diaphragmatic hernia
gastroschisis
exomphalos
cardiac abnormalities
bilateral renal agenesis
lethal skeletal dysplasia
Edwards
pataus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

nuchal translucency

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

more fluid in nuchal translucency

A

sign of Edwards, pataus, downs, congenital heart problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

why must nuchal translucency be done 11-13 weeks

A

as fluid can be reabsorbed by 14 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

process of genetic screening

A

genetic screening
genetic diagnostic test
genetic disorders
family history assessment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

genetic screening

A

how likely the baby will have a condition

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

genetic diagnostic test

A

definitive test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

genetic disorders

A

aneuploidy (trisomy and monosomy)
nutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

aneuploidy

A

abnormal number of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

trisomy

A

extra chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

monosomy

A

missing chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

2 types of prenatal testing

A

screening tests and diagnostic tests

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
genetic screening tests in 1st trimester
screening/ sequential screening/ combined test cell free fetal DNA screening/ non invasive pre natal testing (NIPT) carrier screening
26
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
27
PAPP-A, pregnancy associated plasma protein A results
made by placenta low levels= greater risk of neural tube defects
28
HCG results
hCG made by placenta high= greater risk of trisomy 21 low levels= greater risks of trisomy 18
29
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
30
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
31
genetic screening tests in 2nd trimesters
maternal blood sample 15/16 weeks measures alpha-fetoprotein, hcg, estriol, inhibit
32
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
33
HCG results second trimester
produced by placenta high = trisomy 21 low= trisomy 18 1400-53,000= normal
34
estriol (uE3) results
produced by placenta low= trisomy 21 and 18 5-18ng/ml is normal
35
inhibin results
produced by placenta high= trisomy 21 105-522 pg/ml is normal
36
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
37
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
38
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
39
low chance NIPT
unlikely the baby will be affected
40
high chance NIPT
increased likelihood and recommended invasive diagnostic test
41
no call result NIPT
in very small number of cases the test may not yield a result
42
what does NIPT test for
downs Edwards pataus
43
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
44
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
45
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
46
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
47
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
48
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
49
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
50
2 sides of placenta
fetal maternal
51
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
52
maternal side of the placenta
53
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
54
location of the placenta
55
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
56
pathogenesis/ pathophysiology of rhesus disease
57
treatments of rhesus disease
Rh immunoglobulin medication intrauterine transfusion early deliver y
58
rh immunoglobulin medication
given to mothers who are Rh negative during pregnancy and after delivery to prevent sensitisation
59
intrauterine medication
in case where Rh causes severe anaemia Rh blood transfusion, baby's umbilical vein to replace damaged blood cells
60
early delivery
prevent any further damage if baby is at risk of severe anaemia
61
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
62
different types of SCD
HbSS, most severe HbSc HbS beta thalassemia
63
HbSS
64
HbSC
65
HbS beta thalassemia
66
normal types of haemoglobin
A and F
67
haemoglobin A
most common in healthy adults
68
haemoglobin F
fetal unborn babies and newborns replaced with A after birth
69
abnormal haemoglobin type
S C E
70
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
71
haemoglobin C
doesnt carry oxygen well mild form of anaemia
72
haemoglobin E
mostly found in people with south East Asian descent normally no symptoms/ mild anaemia symptoms
73
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
74
acute chest syndrome
life threatening can result in lung injury breathing difficulty low O2 usually caused by infection medical emergency
75
avascular necrosis
when bone doesnt get enough hO2 bone tissue can die
76
investigations to see if mother is a carrier of sickle cell
questionnaire FBC haemoglobin electrophoresis DNA testing
77
FBC sickle cell
haemoglobin levels reticulocyte levels: normally low white blood cells count: ormally low
78
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
79
DNA testing sickle cell
Done to test which type of sickle cell you have When electrophoresis is inconclusive
80
methods of testing foetal SCD
CVS sampling chorionic villus sampling placental DNA at 9-14 amniocentesis
81
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
82
types of CVS
transabdominal transcervical
83
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
84
newborn sickle cell anaemia testing
heel-prick test part of newborns blood spot test
85
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
86
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
87
booking appointment
88
diet and nutrition advice
89
role of genetic counsellor

Medicine: PBL wrap-ups (21 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions