Obstetrics/Post-natal/neonatal and Fertility Flashcards

1
Q

Lifestyle impacts on a women’s fertility?

(7)

A

Stress
Excessive exercise
Alcohol
Smoking
Toxin/chemical exposure
caffiene intake
Illicit drug use

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2
Q

Causes for infertility in women?

(9)

A

Endometriosis
Autoimmune conditions such as thyroiditis
Uterine fibroids
premature ovarian failure
PCOS
Age > 35
Chemo/radiotherapy
Fallopian tube damage/ovarian surgery
Obesity

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3
Q

Investigations to order for female infertility?

(8)

A
  1. Day 2-4 FSH
  2. Day 2-4 LH
  3. AMH
  4. TV U/S for oocyte count +/- structural abnormalities
  5. Makers for PCOS such as FAI
  6. Prolactin
  7. TSH
  8. Day 2-4 E2
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4
Q

With lactational mastitis what are some measures that can be used?

(4)

A
  1. increased breastfeeding from the affected breast

and

gently expressing milk from the affected breast may prevent progression and resolve infection without antibiotics.

  1. Heat packs should be applied to left the breast prior to feeding to aid with drainage

And

Cold packs should be applied to the left breast after feeding for comfort

  1. Paracetamol 1gram oral, 4-6 hourly
  2. Gentle massage the affected breast during feeding to aid with drainage
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5
Q

When would you consider antibiotic treatment for mastitis and what would you use?

A
  1. If systemic symptoms
  2. If other symptoms (local) do not resolve in 24-48 hours with increased expression/breastfeeding

use

Di/Flucloxacillin 500mg, oral, QID, 5 days, if not quite resolved then 10 days

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6
Q

How do you calculate the LMP?

A

Add 40 weeks to the date of the LAST menstrual period. based on a 28 day period

If periods are longer then add the extra days
If periods are shorter then subtract the extra days.

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7
Q

When is the dating U/S best ordered?

A

8-9 weeks Gestation and only if unsure about LMP

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8
Q

What conditions to check in the past medical history in the first antenatal consult?

(Extensive list)

A

Thyroid Disease
Previous GD or T2 or T1 DM
Alcohol use
Tobacco use
High Blood Pressure
Kidney disease
Heart disease
GI disorders
Asthma
DVT/VTE
Gyne or incontinence issues
Epilepsy
Psychiatric history

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9
Q

What are appropriate tests in the first antenatal visit?

(7+3)

A

Opportunistic CST

FBC

Blood group and antibody

Infectious screen: Rubella, syphilis, hep B, hep C, HIV,

STI screen especially chlamydia if under 25*

Tests for trichomonas or mycoplasma if symptomatic*

Quantitative bHCG

MSSU

Vitamin D

OGGT- if they meet the screening criteria*

*= Not for everyone

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10
Q

What 2 main supplements should be recommended in the prenatal or antenatal consult?

A

Folic acid 500micrograms daily
If overweight/obese then 5mg

Iodine supplementation 150mg daily

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11
Q

Beside for recommending folic acid and iodine what other vitamin/minerals can you screen for or educate about in the antenatal visit?

A

Vitamin D

Iron (if deficiency)

Calcium

B12

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12
Q

List 4 main foods to avoid in pregnancy?

A

Soft cheeses (listeria)

Raw or partially cooked eggs or meat (salmonella and campylobacter)

Liver products (vitamin A toxicity)

Raw shellfish (listeria)

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13
Q

What main lifestyle topics should you cover in the antenatal consult?
Think SNAP WAS
(6)

A

Diet- healthy
Foods to avoid
Smoking STOP
Alcohol NONE
Exercise
Weight management, weight loss is not an appropriate goal.

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14
Q

When is screening for genetic/chromosomal abnormalities best done? and what is offered?

A

11-13 weeks

Option one

Combined first trimester screening
Screens for trisomies 13, 18, 21
Levels of PAPP-A
Also involves nuchal translucency
- is rebatable

Option two

NIPT
Also screens for trisomies 13, 18, 21 BUT also a host of other genetic issues
- not rebatable

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15
Q

What if screens on either the combined first trimester screening or NIPT come back positive? what is the diagnostic next step?

A

Ideally a CVS or amniocentesis

Amniocentesis is actually SLIGHTLY less risk, but has to wait until after 14-15 weeks, which might limit decision making time

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16
Q

One definition of hypertension in pregnancy is a BP of > 140/90, but another more useful measure might be a raise of __ ___ systolic or __ ___ diastolic from _____ or _____ previous blood pressure.

A

(a raise of 30 /15 is defined is hypertension in pregnancy)

> 30 systolic or > 15 diastolic from preconception or baseline readings

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17
Q

The definition of preeclampsia is ________ associated with ____ _______ damage or failure most commonly seen as ________

A

Hypertension

organ system

Proteinuria

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18
Q

What organ systems are involved in pre-eclampsia?

A

Kidney (proteinuria)

Liver (RUQ pain, abnormal tests)

Haematological
platelets <100000 IU

Neurological –? seizures (eclampsia)

Pulmonary oedema

Fetal growth restricion

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19
Q

What tool can you use to asses pre or post natal depression?

A

Edinburugh Post Natal depression Scale

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20
Q

Safest Anti-depressant to use in pregnancy if warranted?

A

Sertraline, primarily because it has all the data

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21
Q

Differntials for antenatal bleeding?

A

Ectopic pregnancy

Miscarriage

Threatened miscarriage

Cervical ectropion
Cervical polyp
Uterine infection
Gestational trophoblastic disease

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22
Q

What are important points of examination when presented with antenatal bleeding?

(3)

A
  1. Haemodynamic stability to determine urgency
  2. Speculum exam
    -Determine amount of bleeding
    -Determine products of conception
    -Determine if there are lesions
  3. Bimanual exam
    –> size of uterus e.g. if large then GTD
    –> Cervical motion tenderness can be PID, ectopic or peritonitis
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23
Q

Tests for antenatal bleeding

(3)

A
  1. Group and save
  2. TVUS
  3. Beta HCG to track rate of increase or decrease
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24
Q

What are three management options to consider for patients if suspecting their antenatal bleeding is a miscarriage?

(3)

A
  1. Expectant management.
    Advise of pain, Advise of blood loss, follow up in 1 week, Educate and arrange how to seek medical attention
  2. Medical
    Needs to be given in monitored facility using misoprostol
  3. Surgical
    D&C - best if haemodynamic instability
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25
What is gestational diabetes?
Glucose intolerance that is diagnosed in pregnancy. Usually tested at 24-28 weeks gestation
26
In a mother with Gestational diabetes what are some complications for the baby? (6)
macrosomnia Fetal death Shoulder dystocia Nerve palsy Hypoglycaemia Respiratory distress
27
What are the cut offs that diagnose GD
28
List some of the higher risk groups, in terms of development of Gestational diabetes, that would dictate screening for it within the first trimester? (8)
Previous GD Previously elevated BGL BMI > 30 First degree relative with T2DM PCOS Medications : antipsychotics, corticosteroids Maternal age > 40 Ethnicity: asian, Indian subcontinent, ATSI, Pacific islander, Maori, Middle eastern, non-white African.
29
Medications that can be used for gestational diabetes? Which medications are not ideal to use?
1. Metformin - no harm to mother or fetus reported 2. Insulin can be used safely Not ideal for use in pregnancy: SGLT2i, GLPRA have not been studied enough Sulfonylureas- being an insulin secretagogue that crosses the placenta can lead to increased birth weight and concerns about infant pancreas, but in saying this, it is used overseas.
30
After a mother with gestational diabetes gives birth when 1. Can they Stop medication (for GD) 2. Should they be screened for T2DM 3. Have follow up regarding Diabetes
1. Stop straight away 2. Test for diabetes 6 weeks to 3 months later 3. 1-2 yearly follow up for development of T2DM
31
In 9 steps outline the major areas to check in the 6 week baby check?
1. Concerns from the mother )+ immunisations 2. Interaction assessment (between mother/father and child in the room) 3. Measurements (growth chart length, weight, HC) 4. Observations (jaundice? cyanosed? abnormal features? work of breathing? does baby look at follow the examiner?) 5. Neurological and eye exam 6. Mouth exam (cleft palate, bifid uvula) 7. Abdominal exam (organomegaly) 8. Cardio-resp exam (auscultate heart, chest, check femoral pulses) 9. Hip exam
32
What are 6 key areas of a 6 week baby check on neurological and eye signs? and 1 area not as useful, that we tend to do alot?
1. Does baby track the examiner 2. Is there a red reflex 3. Are limbs moving spontaneously 4. Does baby prefer one side to use over another 5. Is there a certain posture the baby adopts: decerebrate, decorticate. 6. Hold in a ventral position to check for spinal defects 7. Eliciting primitive reflexes isn't that useful. eg. babinskis or clasping.
33
What is the Barlow test?
34
The fetus is dependent on placental transfer of maternal T4. The fetus then makes t3 from that maternal T4. What important role does thyroid hormone have to play in a developing fetus?
Particularly important for neurological development. Most notably, Haddow et al demonstrated children born to mothers with untreated overt hypothyroidism had an intelligence quotient (IQ) seven points lower at age 7–9 years compared to children born to euthyroid mothers
35
What are the thyroid references ranges in pregnancy compared to normal?
The TSH is usually lower in pregnancy than normal states. And the range changes as per trimester.
36
What is the recommended IODINE intake during a. pregnancy b. breastfeeding
a. 250ug/day b. 270ug/day
37
If needing thyroxine during pregnancy, which is safe, effective and urgent if a patient is hypothyroid in pregnancy, what supplements need to be taken separately to avoid poor absorption of iodine?
Calcium Iron Both can reduce thyroxine absorption and should be taken separately.
38
How much extra thyroxine (as a percentage) should pregnant patients take if they ALREADY had hypothyroidism prior to pregnancy?
about a 30% increase
39
Subclinical hypothyroidism as evidenced by a _(a)__ _(b)__ is associated with ___(c)___. And women with multiple __(c)___ should definitely be screened with a _(b)__ and __(d)__
a.high b.TSH c. Miscarriage/s d. anti-TPO (TPOab)
40
Poorly controlled maternal hyperthyroidism increases the risk of pregnancy complications, such as (3)
miscarriage low birth weight premature birth
41
Hyperthyroidism and thyrotoxicosis in pregnancy should be managed with ____(a)____ input. It is best to make sure a patient with hyperthyroidism is ___(b)____ before conception. If medication is needed during pregnancy, it is better to have __(c)___ compared to carbimazole.
a. Specialist b. euthyroid c. PTU (Propylthiouracil)
42
In the post partum period if hypothyroidism occurs it is usually within ...(a) Continuation of thyroxine treatment throughout subsequent pregnancies reduces the risk of inadvertent hypothyroidism but, as a high proportion of women will ultimately recover normal thyroid function, an attempt should be made to wean thyroxine ___(b)___ after the final pregnancy. Long term follow up with __(c)__ TFT is recommended.
a. six and 12 months postpartum. b. 6-12 months c. annual
43
What will happen to the weight of a new born infan in the first week of life?
They will lose up to 12% of their body weight. With breastfed infants losing more. A breastfed infant should take a further two weeks to regain that weight. If not then consult a lactation consultant.
44
How long do growth charts need to be corrected for prematurity?
up to the age of 2
45
Three pieces of advice to give new parents about newborn baby feeding?
Newborns have approximately 8-12 feeds a day initially. Each feed takes about 20-40 minutes. As the newborns get older, the frequency decreases but the volume/feed increases Usually intake is about 140-180ml/kg per day. Infants are highly variable.
46
Babies can have a range of 'normal' regarding their bowel habits. Some can pass after every meal, some will pass once a day. Colours and consistency also range from yellow, orange, green and brown. What type of stool however should be investigated?
Pale, creamy or white stools why? potential gall bladder or liver disease
47
A baby can be expected to regurgitate between ___ and ___ mls around 3-6 months old. This usually resolves around ___ to ___ months because of the development of the ______ _______ and lengthening of the _________. Concerning vomits include 1. forceful vomiting of _________ amounts 2. Poor ______ 3. _________ symptoms during feeding
1-2 tablespoons 12- 18 months oesophageal sphincter oesophagus large amounts growth respiratory
48
In older children constipation is usually associated with the time of toilet training due to associating defacation with pain. Hence it is mostly functional. In infants it is likely due to inadequate fluid intake. What 2 things should you check regarding feeding ?
1. Check fluid intake 2. Check the parents are making formula to correct instructions (sometimes they switch brands and don't correctly dilute it)
49
Name four fruit that parents can give to children, which have natural laxatives?
prunes, pears, apples and kiwifruit.
50
What laxatives are safe to use in infants?
stool softeners not stimulants parachoc movicol half lactulose
51
When is it recommended to switch from breast feeding, and when should solid foods commence.
this is almost the same question, but not quite WHO recommends exclusive breastfeeding for 6 months. Australian guidelines state around 4.7months is when solids should be introduced.
51
When is it recommended to switch from breast feeding, and when should solid foods commence.
this is almost the same question WHO recommends exclusive breastfeeding for 6 months. Australian guidelines state around 4.7months is when solids should be introduced.
52
what are signs that a baby is ready to begin eating solids? (3)
Showing interest in food eaten by others Good head and neck control ability to sit upright when supported wanting to put things in their mouth appearance of hunger (e.g. hungry after feeds)
53
Should you delay introduction or stagger introduction of allergic prone foods to prevent allergies and intolerances? Example: shellfish, peanuts, cows milk, gluten. If so what is the time line
No there is no set recommendation when to introduce different foods. There is zero evidence behind any set order to introducing foods.
54
With regards to fussy eating studies have shown that, over time, children___(a)___ their intake very well. Even if they have a bad meal, a bad day or a few bad days, they will___(b)____ this over time. This occurs during the ___(c)____ years, when growth slows down and children start to develop a sense of ____(d)______. This is a time of great learning, while appetite and food intake can be erratic.
A. regulate B. recover C. toddler D. Independence
55
What are some strategies to help during a toddler's meal time?
Sit young child securely in a high chair Do not offer too many alternatives Do not allow them to fill up between meals on fluids and unhealthy snacks Limit distractions – turn off all screens Serve small amounts initially – they can ask for more if they are hungry Encourage the child to eat independently and to their appetite20 Do not force feed or pressure the child to eat Expect (and allow) mess and food play Eat family foods together – parents are very important role models Keep meal times happy and relaxed Involve children in food preparation Have routine times for meals and snacks Keep meal times shorter rather than longer (≤30 minutes) Keep offering a range of nutritious foods Control the foods available Provide variations on favourite foods or preferred textures
56
What can be physiological reasons for poor breast feeding?
Insufficient breast development Failure of galactogenesis Maternal obesity Diabetes Infant medical issues
57
What are lactation risk factors for poor breast feeding or discontinuing?
Inverted nipple Previous breast surgery low supply attachment issues nipple pain previous unsuccessful breastfeeding experience
58
What medical causes of low milk supple could be Investigated? Give the cause and investigation. (4+4)
1 Anaemia- haemoglobin 2. Hypothyroidism - check TFTs 3.Retained products of conception, including placenta - TVUS 4. HYPOprolactinaemia - check proloactin Poor latching is not a medical cause for the low supply. though should be mentioned and a lactation consultant, consulted
59
What techniques can be useful when helping a mother use a mechanical device to express milk?
Listening to music Relaxation techniques Warmed and massaged breast Pumped frequently Appropriate breast shield size
60
Which website has information sheets on breast feeding for mothers?
The women's (royal women's hospital)
61
If a child 20 days old develops a fever... 1. What is the gold standard way to measure this? 2. Where should they be managed?
1 Rectal, but an axillary probe can be used if placed for 3 minutes. Skin temperatures are not reliable. 2 Any child <28 days with a fever should be managed as an in patient in hospital. Any child with a fever up to 3 months old should at least be sent to E.D for assessment and admission/discharge can be decided from there.
62
Small amounts of effortless posseting or physiological GOR are common in babies. In otherwise well babies who are feeding adequately and thriving. All this needs is __(a)___ reassurance that this is most likely to improve in the __(b)___ ___(c)___ of life. General measures, such as holding the baby in the __(d)___ position after feeds and __(e)__ agents, may help reduce the vomiting.
a. parental b. first c. year d. prone e. thickening
63
Red flags for infant vomiting include: (7)
Projectile vomiting immediately post feeds Billous vomiting acute abdominal distention Fever Lethargy Dehydration Bulging fontanelle
64
What is a sign of Hirschsprung's disease?
Delayed passing of faeces (>48 hours of life)
65
What would be abnormal pulse and RR for a newbown?
HR < 110 or HR > 170 RR < 25 or RR > 60
66
What can be normal crying/unsettling for a newborn?
Crying in clusters, sometimes for up to 2-3 hours, mostly in the evening or late afternoon. If the baby is otherwise well, then reassure. Crying peaks about 6-8 weeks and should reduce after that
67
What would be a red flag for infant crying? What are some causes of serious reasons for being unsettled. (4 main causes)
Sudden onset of persistent crying Acute pathology such as : infection, hair tourniquet corneal abrasion and non-accidental injury ....should be considered
68
Cows milk protein allergy can be a cause for unsettled babies, if drinking cows milk What features support this? (4)
Supporting features for CMPA include 1. blood and mucus in the stool, 2. diarrhoea or constipation, 3. inadequate weight gain, 4. eczema, and family history of atopy.
69
What is normal weight gain expected for a newborn?
30-40grams per day Expected 0-3 months 150-180grams/week 3-6 months 100-150grams/week 6-12 months 70-90grams/weel
70
When should you begin assessments for infertility?
After 12 months of consistently timed and unprotected intercourse. OR after 6 months if the female partner is over 35 years old
71
What are pretesticular causes for male infertility?
hypogonadotropic hypogonadism, hyperprolactinaemia, medications/drugs
72
What are testicular causes for male infertility?
Klienfeilter Radiation Varicocele Infection Y chromoscome microdeletions Environmental
73
Post testicular causes for male infertility?
Coital Pharmacological Retrograde ejaculation Spinal cord injury
74
What Would you examine in a men when assessing infertility?
General: height and weight Inspection: -body hair axilla, pubic, trunk -Gynaecomastia -Adioposity Abdomen- inguinal scars from ?surgery Penis. position of meatus Scrotum size, consistency, presence of masses, location, epididymis: engorgment, cysts, Vas Deferens: Varicocoele
75
What endocrine tests would you order for male infertility? (3)
First testosterone if low then repeat 6 weeks later with FSH/LH and PRL
76
Instructions to give when collecting a sperm sample?
2-3 days of abstinence Straight into sterile container At home, keep at room temp Transfer to Lab within ONE hour of collection
77
What occupational exposure can affect sperm? (4)
heat related, ionizing radiation, vibrations, pesticides should be avoided
78
What medications can affect sperm? (4)
opioids, testosterone, psychotropic meds, cannabis should be avoided
79
Apart from occupation and medication, what other lifestyle factors should you consel men about with regards to sperm quality?
Smoking- reduced semen quality Alcohol >3-4 SD/day Obesity > 30 will reduce fertility
80
When would you order serum progesterone to assess for female infertility?
Only if there is uncertainty about ovulation, or irregular cycles. Ideally mid-luteal phase. 7 days before expected next peroid. Remember luteal phases (post ovulation) are the most constant. I'm not sure how you would then predict the mid luteal phase in an irregular cycle. May do this with body temperature tracking.
81
Apart from progesterone at day 21 (mid luteal) what other tests can you order in serology to assess ovulation?
E2, FSH, LH also TSH/TFTs PRL
82
You can split investigations about female infertility into investigations for anovulation, ovarian __(a)___ and _____(b)__ _______ . (a) includes Day 2-4 __(c)__ and __(d)__ an estrogen 2. You can also order __(e)____ hormone. Assessment of __(f)__ count can be done with an TVUS. The TVUS can also assess uterine anatomy and structure and ___(g)__ of the pelvic organs. It may detect fibroids, __(h)___ and tubal abnormalities.
a. ovarian reserve b. pelvic anatomy c. FSH d. LH e. Anti Mullerian Hormone f. Antral follicular count g. mobility h. adenomyosis
83
An abnormality identified in basic evaluation (ie hormonal, semen analysis , ovarian reserve, anatomical, pathological) warrants a __(a)___ to a __(b)___ _____ Certain hormonal abnormalities such as hypogonadotropic hypogonadism may also need a subspecialist __(c)___
A. referral B. fertility specialist C. endocrinologist
84
What regular anti-hypertensives should actually be avoided in pregnancy and why?
1. ACEi and ARBs Mainly in second and third trimester For the risk of fetal renal damage
85
What percentage of pregnancies are complicated by pre-eclampsia?
5-8%
86
What is an appropriate target for BP in pregnancy?
It is ok for BP to be between 140-160/90-100. Stricter blood pressure control may be associated with fetal growth restriction, presumed to be related to relative placental hypoperfusion This doesn't mean you need to have higher blood pressure for those under that range, but if treating pre-eclampsia or chronic HTN, and higher baseline is acceptable.
87
What is the difference between gestational hypertension and pre-eclampsia?
Gestational Hypertension is purely HTN diagnosed after 20 weeks gestation without features of Pre-eclampsia. The BP then returns to normal in the post partum peroid. Pre-eclampsia is hypertension with other issue such as thrombocytopenia, significant proteinuria, renal failure, haemolysis, severe headache, hyperreflexia with sustained clonus, persistent visual disturbances, pulmonary odema or fetal growth restriction
87
What is the difference between gestational hypertension and pre-eclampsia?
Gestational Hypertension is purely HTN diagnosed after 20 weeks gestation without features of Pre-eclampsia. The BP then returns to normal in the post partum peroid. Pre-eclampsia is hypertension with other issue such as thrombocytopenia, significant proteinuria, renal failure, haemolysis, severe headache, hyperreflexia with sustained clonus, persistent visual disturbances, pulmonary odema or fetal growth restriction
88
What medications are safe to use in pregnancy when treating hypertension or pre-eclampsia? List one, but there are about 4 options
Methyldopa 250mg BD, orally. Up to 500mg QID Nifedipine MR 30mg, oral, daily, up to 120mg. Hydralazine Prazosin 0.5mg, oral, daily up to 3mg
89
What are risk factors for pre-eclampsia? (4)
<18 or > 40 years old Past history of pre-eclampsia Cormobidites: DM, CKD, Obesity, HTN Anti-phosolipid antibodies or other connective tissue disease
90
_______ ______ is no longer considered a diagnostic feature of pre-eclampsia as it is neither a sensitive nor specific sign
peripheral oedema
91
Part A Clinical manifestations of pre-eclampsia include: Severe ___(a)____, ____(b)____ disturbances, haematological abnormalities, severe __(c)___ ____ ____ pain, raised trans___(d)___, hyper___(e)___, The presence of these features suggest severe pre-eclampsia. The presence of severe pre-eclampsia mandates urgent review. A multidisciplinary team approach (obstetrician, midwife, neonatologist, anaesthetist and physician) is often required. Part B What is the way to definitely treat pre-eclampsia?
Part A a. headaches b. visual c. right upper quadrant d. 'trans' aminases e. 'hyper' reflexia Part B. Delivery is the only definitive way to treat this. The pregnancy is rarely allowed to go to term. Management of pre-eclampsia before 32 weeks gestation should occur in specialist centres with sufficient expertise and experience. Severe hypertension may require parenteral antihypertensive.
92
How long does it take for pre-eclampsia to resolve after birth? And what should be done to monitor?
Days to 1-2 weeks Frequent review of blood pressure during this period is essential, for example once to twice weekly
93
Is pre-eclampsia associated with long term cardiovascular risk?
Yes for \hypertension, ischaemic heart disease, stroke and venous thromboembolism Annual assessments of blood pressure and at least five-yearly assessments for other cardiovascular risk factors are advisable.3 Thyroid and renal function should also be measured intermittently.
94
What 2 medications can be used in subsequent pregnancies to prevent pre-eclampsia? When is it used?
The use of low-dose aspirin has been shown to be safe and beneficial in decreasing this risk in women with a moderate to high risk of pre-eclampsia. It is started at the end of the first trimester and can be safely continued until the third trimester, with most centres ceasing therapy at 37 weeks gestation. The second is calcium (even though not technically a medication). Calcium supplements (1.5 g/day) may be of benefit, particularly in women at risk for low dietary calcium intake
95
What risks are posed to the baby from maternal smoking during pregnancy? (3)
1. Growth Restriction / low birth weight / small for gestational age 2. Growth defects: cleft palate, limb reduction, GI and eye issues 3. Still birth
96
What are obstetric complications of smoking with pregnancy? (5)
1. Placental: abruption, previa 2. Premature rupture of membranes 3. Ectopics 4. Preeclampsia 5. Infertility (men and women; semen reduction and female infertility)
97
What is reproductive carrier screening? What is the difference between this and the first trimester screening?
If there is an increased risk of a heritable disorder, based on the family history or ethnic background, then pre-pregnancy genetic counselling should be offered to assist in determining the couple’s risk of an affected child and to provide information about options for carrier screening, preimplantation genetic diagnosis, prenatal diagnosis and postnatal management. The tests in the first trimester are primarily for chromosomal abnormalities, that aren't necessarily 'genetic' but due to issues when cells are replicated. i.e missing parts or whole chromosomes or extra chromosomes. e.g. Down Syndrome
98
What vaccinations should be checked prior to conception? (4)
SARSCoV-2, measles, mumps, rubella, diphtheria, tetanus and pertussis Hepatitis B, rubella and varicella should be completed for those not fully immunised.
99
What are 3 main genetic concerns that can be screened for in pre-conception screening?
1. Cystic fibrosis 2. Spinal Muscular Atrophy 3. Fragile X syndrome