Antenatal care, Down's, Abortion

Question 1

when are the ultrasounds done in pregnancy

Answer 1

10-12 w at booking scan- dating, viability, position

20w at anomoly scan

Question 2

what is screened for before the booking scan and when

Answer 2

before 10 weeks screen for sickle cell and thalassaemia

Question 3

what is screened for at the booking scan

Answer 3

10-12 w
infectious diseases: HIV, hep B, syphillis
rhesus disease and anaemia
combined test for Down’s Edward’s, Patau’s

Question 4

what is the anomoly scan

Answer 4

20w
USS for 12 conditions, including
Edward’s
Patau’s
Cleft lip
Anencephaly
Open Spina bifida

Question 5

what other tests are performed throughout antenatal care

Answer 5

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

Question 6

what screens for Down’s, Edward’s, Patau’s

Answer 6

Down’s: combined, quadruple test
Edward’s, Patau’s: Combined, 20w anomoly scan

Question 7

what/ when is the combined test

Answer 7

offered at booking scan
for between 10-14 w
for Down’s, Ed, Pat

combines blood test, NT, mat age

Question 8

what does the blood test for the combined test look for

Answer 8

in Down’s:

PAPP-A is low
beta-hCG is raised

Question 9

what is the ultrasound used for in the combined test

Answer 9

measure nuchal translucency

measures the subcutaneous fluid-filled space between back of spine and skin on neck

in Down’s, NT is raised

Question 10

why can’t you use nuchal translucency to screen for Down’s after a time

Answer 10

NT increases with gestational age and disappears week 14

Question 11

probability of a screen positive result in 25yo vs 45yo

Answer 11

25 yo 1 in 100
45yo 1 in 4

Question 12

When/ why is quadruple test offered

Answer 12

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

Question 13

what is the quadruple test and what does it test for

Answer 13

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

Question 14

alpha- fetoprotein is made by?

Answer 14

baby

Question 15

quadruple test also screens for?

Answer 15

spina bifida and anencephaly
alpha-fetoprotein high

Question 16

what is the role of genetic counselling

Answer 16

genetic counselling is the process of helping people understand and adapt to the medical/psych/familial implications of genetic contributions to disease

Question 17

what is screening

Answer 17

identifying healthy people who are at increased risk of disease or a condition

Question 18

examples of requirements of a screening test to be a part of the screening programme

Answer 18

condition should be important

treatment available

diagnostic test or exam available

cost of case-finding economicall balanced in relation to medical care expenditure

Question 19

what do genetic counsellors do for pts

Answer 19

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

Question 20

info about miscarriage stats

Answer 20

1 in 4 pregnancies miscarry
85% spontaneous miscarriages happen in first trimester
risk factors: age, smoking, obesity, alcohol, drugs

Question 21

recurrent miscarriage?

Answer 21

1% women will have
= over 3 consecutive miscarriages
reason often unknown

Question 22

most common genetic causes of miscarriage?

Answer 22

aneuploidy, disrupts cell equilibrium so significantly most not compatible with life

trisomies= 35% all miscarriages before 20w

all autosomal monosomies are lethal

Question 23

accuracy of screening tests for down’s requirement

Answer 23

screening test must detect 75% of babies with Down’s,
false positives no more than 3%

Question 24

what if get high risk screening result

Answer 24

invasive testing (or, now on, non invasive)

NIPT
chorionic villus sampling
amniocentesis

Question 25

why offer further testing after positive screen result

Answer 25

could influence whether abort help prepare for life w disabled child may facilitate early intervention/treatment that would influence outcome

Question 26

what/ when/ risks chorionic villus sampling

Answer 26

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%

Question 27

what/when/ risks amniocentesis

Answer 27

amniocentesis from 15 weeks amniotic fluid has fetal genetics sapmple amniotic fluid, ultrasound probe and fine needle, centrifuge, chromosome analysis

Question 28

what is NIPT

Answer 28

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

Question 29

how does NIPT work

Answer 29

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

Question 30

considerations with NIPT

Answer 30

if multiple pregnancies then can't distinguish BMI may influence not as simple as a regular blood test- need counselling and fully informed consent

Question 31

how does mat age influence Down's risk

Answer 31

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

Question 32

what causes Down's syndrome

Answer 32

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

Question 33

what is Down's syndrome

Answer 33

trsomy 21 (extra copy of chromosome 21)

Question 34

distinctive features of Down's

Answer 34

developmental delay, learning disability flat facial features bulging tongue almond eyes epicanthal folds single palmar crease short neck hypotonia (decr muscle tone)

Question 35

health problems assoc with downs

Answer 35

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

Question 36

lifespan and independence down's

Answer 36

5% babies don't survive first year avg lifespan 60 impact varies, can have good quality life, semi independent most need significant support

Question 37

medical termination of preg

Answer 37

'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

Question 38

surgical termination of preg

Answer 38

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

Question 39

termination after 21 weeks

Answer 39

surgical maybe may be necessary to inject fetus with potassium chloride to ensure fetal asystole, induce labour

Question 40

considerations when having a baby with a disability

Answer 40

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

Question 41

supporting someone whose child will have down's

Answer 41

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

Question 42

what acts are also in place, alongside abortion act

Answer 42

the offenses against the person act 1861 infant life preservation act 1929 abortion act 1967 human fertilisation and embryology act 1990

Question 43

offenses against the persons act and infant life preservation act

Answer 43

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

Question 44

abortion act

Answer 44

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

Question 45

what moved the cut off for the time limited abortion

Answer 45

from 28w in abortion act to 24w in human fertilisation and embryology act 1990

Question 46

other elements of abortion act 1967

Answer 46

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)

Question 47

who has final say in abortion, how much is dad/other involved

Answer 47

the mother, only the mother dad has no say

Question 48

abortion laws in NI

Answer 48

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

Question 49

the abortion regulations NI

Answer 49

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

Question 50

conscientous objection to abortion

Answer 50

doctor must explain do not provide abortions, not why. give support and info, refer to another practitioner

Question 51

can you get an abortion for down's

Answer 51

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

Question 52

what do you call a child you cannot talk and how may they communicate

Answer 52

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

Question 53

types of AAC

Answer 53

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

Question 54

tips for consultations with non-verbal children

Answer 54

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

Question 55

reasonable adjustments for learning disabilities 5 examples

Answer 55

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

Question 56

social model of disability

Answer 56

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

Question 57

impairment and disability as considered by social model

Answer 57

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

Question 58

how do biomedical models of disability see impairment and disability

Answer 58

person is impaired so difficulties are the direct and inevitable consequence of bio and psych impairment

Question 59

what are the 3 care groups that deliver antenatal care and what do they do

Answer 59

Midwives- booking, check ups, most pregnancy care, give info GP- community care for minor conditions of pregnancy OB- specialist care in high risk pregnancies

Question 60

how does antenatal care differ on how many children you have had

Answer 60

if 1st pregnancy seen 10 times by midwife + anomolu scan if 2nd preg seen 7 times + anomoly scan

Question 61

what are the 4 phases of antenatal care and what do they include

Answer 61

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

Question 62

purpose of maternity care

Answer 62

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

Question 63

what happens in 1st trimester antenatal care

Answer 63

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

Question 64

what happens in 2nd trimester antenatal care

Answer 64

20 week anomoly scan USS for structural abormalities

Question 65

what happens in 3rd trimester antenatal care

Answer 65

bp and urine samples to screen pre-eclampsia check for fetal growth restriction- if low risk w tape if high risk with USS

Question 66

how do ultrasound scans work

Answer 66

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 ```

Question 67

home birth stats

Answer 67

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

Question 68

pregnancy outcomes 1st trimester

Answer 68

20% miscarry 80% of eggs in women over 40 have chromosomal defects vs 17% in women in 20s

Question 69

pregnancy outcomes 2nd trimester

Answer 69

1% miscarry 4% fetal abnormalities

Question 70

pregnancy outcomes 3rd trimester

Answer 70

lowest risk period 1% born prematurely at 28 weeks 1 in 225 stillborn

Question 71

UK stillbirth and death within 28 days has...

Answer 71

more than halved in last 40 years, now 5.5/1000

Question 72

what is behind 50% stillbirths

Answer 72

fetal growth restriction failure to reach genetic growth potential affects 5% pregnancies 75% cases are missed leads to preterm birth, neonatal morbidity, lifelong diability

Question 73

how does risk of maternal death vary across countries

Answer 73

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

Question 74

what are the most common causes of maternal deaths

Answer 74

heart disease blood clots epilepsy or stroke sepsis

Question 75

how is mat mortality reduced

Answer 75

hygeine haemorrage management antenatal care to identify complications c-section antibiotics blood pressure treatment

Question 76

ethnic differences in maternal deaths

Answer 76

4-5 times as many black women die in childbirth than their proportion of mothers who gave birth

Question 77

how are pregnancy demographics changing

Answer 77

5 times as many women given birth over the age of 40 compared to 20 years ago

Question 78

why take folic acid

Answer 78

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

Question 79

what does social support have beneficial effects on

Answer 79

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

Question 80

What screening is offered after baby is born

Answer 80

Heel prick test Hearing Physical exam

Question 81

What/ when is heel prick test

Answer 81

5 days old newborn Prick heel, draw 4 drops blood onto card Screens for 9 rare conditions including Sickle cell Cystic fibrosis PKU

Question 82

What/ when newborn physical exam

Answer 82

Within 72hrs after birth A 2nd exam offered 6-8 weeks at GP Checks eyes, hearts, hips, testicles, general check

Question 83

Newborn hearing check

Answer 83

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