WOMENS HEALTH - PHYSIOLOGY Flashcards
NEWBORN SCREENING
What types of newborn screening are there?
- Newborn infant physical examination (NIPE)
- Newborn blood spot conditions
- Newborn hearing screen
NEWBORN SCREENING
When is the NIPE done?
What for?
- First within 72h of birth + Second by GP at 6–8w
- Screens for problems with hips, eyes, heart + genitalia
NEWBORN SCREENING
What is the process of the newborn blood spot conditions screen (Guthrie/heel-prick)?
- Screening on day 5–9
- Residual blood spots stored for 5 years (part of consent process) for research
NEWBORN SCREENING
What conditions does the newborn blood spot screen for?
3 genetic –
- Sickle cell disease
- Cystic fibrosis
- Congenital hypothyroidism
6 inherited metabolic –
- Phenylketonuria
- Medium-chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Isovaleric acidaemia
- Glutaric aciduria type 1
- Homocystinuria
NEWBORN SCREENING
What is the rough incidence of…
i) sickle cell disease?
ii) cystic fibrosis?
iii) congenital hypothyroidism?
iv) phenylketonuria?
v) MCADD?
vi) MSUD?
vii) IVA?
viii) GA1?
ix) homocystinuria?
i) 1 in 2000
ii) 1 in 2500
iii) 1 in 3000
iv) 1 in 10,000
v) 1 in 10,000
vi) 1 in 150,000
vii) 1 in 150,000
viii) 1 in 300,000
ix) 1 in 300,000
NEWBORN SCREENING
What specifically is tested for in…
i) cystic fibrosis?
ii) congenital hypothyroidism?
iii) phenylketonuria?
i) Immunoreactive trypsinogen
ii) TSH
iii) Phenylalanine
NEWBORN SCREENING
What is phenylketonuria?
What are the features of phenylketonuria?
What is the management?
- AR defect in phenylalanine hydroxylase (C12)
- LDs, seizures, ‘musty’ odour to urine + sweat, (fair hair, blue eyes)
- Phenylalanine restricted diet
NEWBORN SCREENING
What is the management of MCADD?
- Avoid long periods with no food
- High sugar drinks when ill
NEWBORN SCREENING
What does MSUD, IVA and GA1 have in common?
What are their differences?
What is the management?
- Issues with processing amino acids
- MSUD = leucine, isolecine + valine
- IVA1 = leucine
- GA1 = lysine, hydroxylysine + tryptophan
- Limit high protein foods
NEWBORN SCREENING
What is homocystinuria?
How does it present?
What is the management?
- Cystathionine synthetase deficiency
- Developmental delay, MSK like Marfan, fair complexion, brittle hair, dislocation of lens
- Pyridoxine (vitamin B6)
NEWBORN SCREENING
What is the newborn hearing screening?
Why is it done?
- All babies screened within 4w of birth ideally (up to 3m)
- Early identification crucial for developing speech, language + social skills
NEWBORN SCREENING
What does the newborn hearing screen involve?
What is the outcome?
- Automated otoacoustic emission (AOAE) test with some babies needing automated auditory brainstem response (AABR) test
- Refer to audiology within 4w if no clear response with one or both ears
PREGNANCY PHYSIOLOGY
What hormones increase in regards to the anterior pituitary gland?
- ACTH = rise in steroid hormones (cortisol, aldosterone) = improves autoimmune conditions (RA) but susceptible to DM + infections
- Prolactin = suppresses FSH + LH
- Melanocyte stimulating hormone = increased skin pigmentation (linea nigra + melasma = brown pigmentation)
PREGNANCY PHYSIOLOGY
What other hormones rise in pregnancy?
- T3/T4
- HCG = doubles every 48h until plateau at 8–12w then gradual fall
- Progesterone
- Oestrogen
PREGNANCY PHYSIOLOGY
What changes occur to the uterus in pregnancy?
- Increase from 100g–1.1kg
- Hyperplasia + hypertrophy of myometrium
- Decidual spiral arteries remodelled for wide bore low resistance
PREGNANCY PHYSIOLOGY
What changes occur to the cervix in pregnancy?
- Increased oestrogen = ?cervical ectropion + increased discharge
- Before delivery, prostaglandins break down collagen in cervix = dilate + efface
- Chadwick’s sign = early pooled deoxygenated blood > blue tinge
PREGNANCY PHYSIOLOGY
What changes occur to the vagina in pregnancy?
- Oestrogen > hypertrophy of vaginal muscles + increased PV discharge
- Makes bacterial + candida infection more common
PREGNANCY PHYSIOLOGY
What changes occur to the breasts?
- Increased size with increased gestation
- Fat deposition around gland tissue
PREGNANCY PHYSIOLOGY
In terms of the cardiovascular system in pregnancy, what…
i) increases?
ii) decreases?
i) Blood volume, plasma volume, CO (as increased SV + HR)
ii) Peripheral vascular resistance (can cause flushing + hot sweats) + BP in early-mid pregnancy but returns to normal by term
PREGNANCY PHYSIOLOGY
What changes can occur to the vascular system?
- Varicose veins due to peripheral vasodilation + obstruction of IVC by uterus
PREGNANCY PHYSIOLOGY
What CVS anatomical changes are there?
- Diaphragmatic elevation > heart displaced upwards/left so apex moved laterally
- Increased ventricular muscle mass + increased LV/LA size
- Altered QRS (LAD), ECG changes (inverted T waves) + flow (ES) murmurs
PREGNANCY PHYSIOLOGY
In terms of the respiratory system, what are the mechanical changes?
- Increased subcostal angle, pulmonary blood flow + tidal volume
- Decreased vital capacity + functional residual capacity
- Progesterone causes trachea-bronchial smooth muscle relaxation
PREGNANCY PHYSIOLOGY
In terms of the respiratory system, what are the biochemical changes?
- Increased oxygen consumption (20%) + RR
- Compensated resp alkalosis may occur as increased pO2 + reduced pCO2 (facilitates foetal CO2 excretion), renal HCO3- excretion to prevent this
- Increased 2,3 DPG to promote maternal Hb to release oxygen
PREGNANCY PHYSIOLOGY
In terms of the renal system, what…
i) increases?
ii) decreases?
i) Blood flow to kidneys (so GFR), aldosterone (Na + water reabsorption + Retention), protein excretion
ii) Serum creatinine, urate + albumin
PREGNANCY PHYSIOLOGY
What can happen in terms of the urinary system?
What is a consequence of this?
What else contributes?
- Dilatation of ureters + collecting system > physiological hydronephrosis (more R)
- Increased risk of UTIs
- Decreased ureter tone/peristalsis = urinary stasis
PREGNANCY PHYSIOLOGY
What 4 forces/pressures govern fluid retention in pregnancy?
- Capillary (hydrostatic) pressure of blood in vessel = draws fluid OUT
- Interstitial fluid colloid oncotic pressure of proteins in interstitial fluid = draws fluid OUT
- Interstitial fluid pressure of tissues surrounding vessel = draws fluid IN
- Plasma colloid oncotic pressure (albumin) = draws fluid IN
PREGNANCY PHYSIOLOGY
Why does pregnancy cause dilutional anaemia?
What is the purpose of this?
- Increased RBC production = higher iron, folate + B12 requirements
- Increased ECF + plasma volume MORE than RBC volume leading to lower red cell conc (haematocrit) + lower Hb conc
- Facilitates placental perfusion
PREGNANCY PHYSIOLOGY
What happens in terms of clotting in pregnancy?
- Clotting factors (fibrinogen, VII, VIII + X) increase
- Plasminogen activator inhibitor increases (plasmin usually breaks clots down)
- Hypercoaguable state