exam 3 revison

how many genes does a person have?
what are they arranged in ?
what do they contain?
where is it found?

23,000
-arranged in a linear order of chromosomones
- each chromosone contains hundreds if genes
- most of the cells DNA is found within the necleus and with the DNA this is known as the human genome

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what is DNA ?
what does it consist of ?

- deoxy ribo nucleic acid - the nucleic acid carries the genetic code
- made up of chemical compounds
- consists of 2 chains that coil around each other to form a double standard helix - ladder

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what is DNA made up of?

- made up of nucleotides - these are chemicals such as phosphate, sugar, thymine, aedine, cytosine and guanine

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what is the process of transcription?

- the process which involves copying genetic information from the DNA (storer of chromosones) to the RNA (messenger) which then allows proteins to be made.

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what do proteins to in the process of genetics?

- they determine the characteristics of specialised
cells and whole organisms eg hair colour, eye colour

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what do chromosomes carry?
how many chromosomes in each cell?
how many sex chromosomes?
what do they also contain?

- carry genetic information in the nucleus of living cells
- 23 pairs in each cell
- 1 sex chromosome
- also contain long strands of DNA whch contain many genes

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how do cells replicate ?
what are the 2 processes ?

- through mitosis and meiosis
- mitosis - where one cell divides and gives rise to 2 daughter cells which are genetically identical

- meiosis - only occurs in the ovaries or testes
where one sperm cell only has half the number of chromosones and they a

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what is the process of gene mutation?

what is a numerical mutation?

- a permanent alteration in the DNA sequence that makes up a gene

- where there is one extra or missing chromosones to a pair

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what is aneuploidy ?
what is polyploidy?
what is a structural mutation?

- where there is 1 extra or 1 missing

- where there may be 2, 3 or 4 extra or missing chromosones

- where there is 1 extra or missing chromosones to a pair

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what are the most frequent numerical abnormalities in liveborn?

- down syndrome
- Edwards syndrome
- Patau
syndrome

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where does genetics fit into the role of a midwife ?

- from 1st antenatal assessment
- following a specialist care plan during delivery
- examining and caring for a newborn

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preconception factors that can influence fertility

- chronic diseases
-bmi
- smoking
- substance abuse
- maternal age

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what are the 2 processes that occur in fertilisation?

- mitosis - cell divison where cells are made genetically the same
- meiosis - the process where a single cell divides twice to produce 4 cells which contain half the genetic information

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what does meiosis produce?

produces our sex cells also known as gametes
- sperm for the males
- eggs for females

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when does ovulation take place?
how long can an unfertilised oocyte live for?
what does a oocyte not have power over?

- takes place on day 14
- live for 12-74 hours
- no power over locomotion so travels through the fallopian tube with the help of the cilia

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when does the production of sperm begin?
what does the tip of the sperm contain?
how many sperm is in each ***********?
how many reach the ovum?

- begins in puberty and continues throughout adult life
- each sperm has a head, body and tail to help propel the sperm along
- each *********** contains approx. 300 mil sperm
- only 15% are thought to reach the ovum.

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what is the journey of fertilisation
how does the sperms journey through the fallopian tube change it ?

- sperm are required to go through capacitation to be able to fertilise an oocyte.
- the journey through the fallopian tube makes it mature and capable of releasing the enzyme hyaluronidase which allows travel through the penetration through the zona pel

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what does the cortial reaction cause the ovum to do?
what happens when the sperm nucleus enters through the zona pellucida and cytoplasm?

- causes it to swell and alters the zona pellucida making it Impermeable to other sperm

- the tail detaches

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what does the fusion of the male and female perinuclei result in?
what does fertilisation result in?

- results in a new cell called the zygote

- fertilisation results in a new nuclei that is the combination of genetic material from both the sperm and the ovum in a diploid cell which has 46 chromosomes

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the development of the zygote
week 0-2 ?
week 2-8?
week 8-birth ?

0-2 - the pre embryonic period
week 2-8 - the embryonic period
week 8 - birth - the fetal period

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pre embryonic stages

day 1 - zygote splits into 2 cells
- days 2 zygote has split into 4 cells
- day 2.5 zygote has split into 8 cells
- day 3 zygote has split into 16 cells and is now known as the murula

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what are the single layer of cells known as around the outside of the blastocyst ?

what forms the inner cells mass ?

- the trophoblast
- the embryoblast

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how long does the blastocyst lie free when it first enters the uterus?
what happens on day 6 ?

- for approx. 2-3 days
- the blastocyst begins to embed into the endometrium

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what encourages the blastocyst to embed into the endometrium ?

- encouraged by the trophoblast becoming sticky as it holds on to the endometrium and begins to secrete substances that then digest the endometrium

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implantation stage :
what happens once the blastocyst has started to embed on the lining of the uterus ?

- villi start to make their way to the decidua
- they then begin to branch and contain blood vessels of the developing embryo which then allows gaseous exchange between the mother and the embryo.

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what happens on day 12 of the implantation stage ?

- the conceptus is completely embedded in the compact layer of the endometrium and is covered by the uterine epithelium

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what is the role of the corpus luteum

- has an important role in fertilisation and maintaining pregnancy
- progesterone maintains the integrity of the decidua meaning that menstruation is stopped

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what are the 4 stages of embryo development ?

1 - zygote and cleavage
2- fertilised
3- embryo
4- blastocysyst
5- morula

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what happens to the embryoblast and the trophoblast when implantation occurs?

trophoblast - the outer lining of the blastocyst becomes the placenta and the chorion

embryoblast - becomes the embryo, amnion and umbilical cord

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what happens to the trophoblast when implantation occurs?

- small projections begin to appear on the surface these then turn into different layers
- the syncytiotropoblast
- the cytotrophoblast

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what is the syncytiotrophoblast and the cytotrophoblast ?

- syncytiotrophoblast - composed of nucleated protoplasm which helps in the implantation of the decidua
- the cytotrophoblast - single layer which is responsible for releasing the hormone HCG (human chronic gonadotrophin)

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what happens when the implantation process starts to happen to the embryo?

- the embryo starts to develop from the embryoblast and the cells from this start to differentiate in to 2 types of cells

- embryonic epiblast
- hypoblast

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what does the embryonic epiblast turn into?

what does the hypoblast turn into?

what is the yolk sac ?

- embryonic epiblast - becomes the embryo and the amniotic cavity
- hypoblast - becomes the yolk sac
yolk sac - provides nourishment for the embryo up until the 12th week when the placenta takes over

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what are the 3 germ layers and how are these developed ?

- mesoderm, ectoderm, endoderm

- developed through gastrulation

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what is the ectoderm layer

- the start of the tissue that covers most of the surfaces of the body eg the epidermis layer of the skin, hair nails and also forms part of the nervous system

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what is the mesoderm layer

what is the ectoderm layer?

mesoderm - forms the muscle, skeleton, dermis of the skin, connective tissues, urogenital glands, blood vessels and blood and lymph cells.

- endoderm - forms the epithelia lining of the digestive, respiratory and urinary systems and glandular cells

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what is organogenesis ?

- the vulnerable stage within embryo development
- refers to the development of different organs and systems within the body
- from week 3 the embryo enters the vulnerable stage of organogenesis and it completes at week 8

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what happens to the 3 germ layers during the stages of organgenesis ?

- the 3 germ layers of the embryo form into the major organs of the body

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what are the growth factors of breastmilk ?

- epidermal, insulin and transforming factors which promote gut growth.

- also help to play a role in early life programming and can be associated with reduced risk of obesity and cancer in later life

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what is the impact of ineffective attachment
for the mother

- sore *******
- engorgement
- low milk production
- mastitis
- loss of confidence

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impact of ineffective attachment for baby

- feeding very frequently
- frustration
- jaundice
- poor weight gain

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what makes for an affective latch ?

- wide mouth
- chin tucked in
- more areola at the side and at the top visible
- head free
- nose in line with the ******

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how to recognise affective attachment

- feeding is pain free
- chin indenting the breast
- mouth wide open
- cheeks full and rounded

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what are the CHINS principles

c - close
h - head free
I - inline
N - nose to ******
S - sustainibilty

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how does laid back nursing help with breast feeding?

what is best nose to ****** attachment ?

- allows gravity to work with the baby's reflexes

- aim for asymmetrical rather than symmetrical

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how to support affective breastfeeding

- skin to skin contact for at least an hour
- CHINS in place?
- mother and baby both calm? - talking singing etc
- mother gently rub ****** against top lip of baby
- point out instinctive cues (head bobbing, rooting)
- check mothers comfort - drink nea

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what do mothers want regarding help and
support on breastfeeding

- practical help and tips
- not hands on or intrusive or unpleasant
- for the midwife to observe the full feed
- and have a practical approach

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how to assess breastfeeding

- measure the baby's output eg urine and stools
- general appearance of baby and behaviour eg good tone?
- gaining weight?
- ****** shape after feeds - ****** damage?
- engorgement/ blocked ducts/ mastitis
- use of ****** shields / supplements

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what are the benefits of expressing breast milk in the early days?

- can tempt the baby to feed if they are sleepy
- provide colostrum for an at risk baby
- kick start the milk production
- to show the mother she has milk
- can obtain milk for a baby who does not feed

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what are the benefits of expressing in the long term?

- it can prevent and manage problems such as mastitis and blocked ducts.

- for social reasons.

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what are they key principles of hand expression?

- can help to clear a blocked duct
- the best method for obtaining colostrum
- can target a specific area of the breast
- convenient - no equipment required

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how to help the let down

- gently massage the breast
- warmth
- gentle ****** rolling
- relaxing and calm atmosphere
- touch and smell or a photo of the baby

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hand expressing for sick or preterm babies

- skin to skin contact if possible
- hand express within 2 hours of birth
- express at least 8 times in 24 hours inc at night
- combine both hand and the pump as the volume increases

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how to use a breast pump

- massage the breast
- place in the centre of the ****** to ensure a good fit
- increase vacuum slowly until slightly uncomfortable
- pump until milk flow decreases
- massage and pump again
- double pumping can also be affective

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what to do if milk production falters

- check expression technique and frequency
- kangaroo care
- increase frequency and duration of expression
- relaxation techniques
- prolactin enhancers

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how to store breastmilk

- store in a sterilised container or in a special breast milk storage bags
- can be stored in fridge for up to 5 days at 4oc or lower
- 2 weeks in ice compartment of the fridge
- up to 6 months in the freezer

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signs of mastitis

- engorged breasts
- hot
- tight/hard
- painful
- shiny
- may be inflamed
- milk not flowing well
- mother may have a fever

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treatment for mastitis

- effective breast drainage
- hand expression
- anti inflammatory therapy
- fluids
- plenty of rest
- antibiotics

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thrush
- indications
- what can this go on to cause?

- both mother and baby can get this and will need treatment
- white tongue on baby
- mother can have a reduced milk supply

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how can mothers increase their milk supply

- encourage frequent feeding
- try expressing after feeds
- which feed if the baby is sleepy
- breast compression

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what are the newborn challenges baby's face when making the transition from womb to world?

- babys lungs expand
- circulatory systems adapts
- excess red blood cells broken down
- temperature control required
- kidney function begins
- immune system kicks in
- will need to feed

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how can recognise a healthy term baby?

- tone
- level of consciousness
- colour
- respiration and heart rate
- temperature
- responsiveness

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what babies are at risk?

- babies of diabetic mothers
- babies of mothers that have taken beta blockers which causes increased blood sugar levels
- preterm babies less than 27 weeks
- babies below the 2nd centile

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how to take care of high risk babies whilst breastfeeding

when is dextrose gel used?

- skin to skin contact to keep baby warm
- if baby is not feeding properly try colostrum to baby via hand expression

- used on infants below 35 gestational age and younger than 48 hours after birth

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what is hypernatermic dehydration?
what is this caused by?
what are the signs and symptoms ?

- caused from inadequate feeding

- inadequete weight gain
- redcued stooling
- jaundice
- dehydration
- raised blood sodium levels
- requires hospital admisson

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what are the signs of insufficient milk intake ?

- low urine output (fewer than 6 wet nappies in 24 hours by day 6 )
- abnormal stool pattern ie no changin/ yellow by day 3
-fewer than 2 stools per day (under 4-6 weeks)
- exessive weight loss in the first week

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neonatal jaundice and feeding

- can worsen if baby is not feeding
- jaundice babies can be sleepy and reluctant to feed
- "breast milk jaundice" can develop later however is not a cause for concern.

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how can midwives help mothers with a baby who fights with the breast?

- help the mum to relax
- skin to skin
- laid back positions
- be patient
- encourage baby to lick expressed breast milk from the breast#

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what is baby jaundice ?
what are the clinical signs of this?
what is the correct term for it?
how often is it seen?

- the yellow discoloration of the skin and the clinical sign of raised bilirubin serum levels
- hyperbilirubinemia is he correct term for an infant who appears to be jaundice.
- occurs in about 75% of term infants and 80% of preterm babies in their firs

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how and why does jaundice occur?
what happens in the red blood cells?

- these carry oxygen around the body and to do this they use haemoglobin which makes the blood red if you do not have enough of these in the body then you become anaemic

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why does jaundice occur ?
what happens in the white blood cells?

- part of the immune system which helps to fight off infection. if you don't have enough of these you are more likely to pick up an infection

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how and why does jaundice occur ?
what happens to the platelets

- these help to prevent bleeding and help the blood to clot when the wound is bleeding platelets gather at the wound and help form a clot to stop bleeding.
- if you don't have enough platelets in your blood you bruise more easily and be more prone to ble

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what is physiological jaundice caused by?

- increased amount of bilirubin produced in the newborn
- increased reabsorption of bilirubin from the intestines

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what are the predisposing factors of physiological jaundice?

- bruising and or cephalohematoma at delivery which can release more blood into the tissues
- delay in establishing breastfeeding causes a form of dehydration which alters bilirubin metabolism
- ?late clamping of cord which allows more blood to the baby

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why may we need to treat jaundice?

- bilirubin is potentially toxic and can cause cell damage when circulating into the blood stream
- high levels of unconjugated indirect bilirubin are serious if entering the brain
- cells that are damaged by bilirubin will not grow back
- can lead to s

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what is unconjugated bilirubin?
examples?

- the production of bilirubin exceeds the the ability to conjugate
- eg haemolytic anaemia
bleeding
hepatitis
physiological jaundice of the newborn

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what is conjugated bilirubin?
examples ?

- can be produced but not excreted
- eg -biliary tract disease
- biliary tract obstruction

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clinical examination of jaundice and assessment

- yellow colouring of the skin this is due to the increased levels of bilirubin that give the skin the yellow appearance and is potentially toxic and can cause cell damage in the bloodstream

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how do we measure levels of bilirubin ?

- heel ***** sample
- transcutaneous bilirubinometer which provides a non invasive approach to assess the risk of hyperbilirubinemia in new-born.
- this utilises light instead of a needle and allows easy measurement serum bilirubin levels

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what are the disadvantages of the transcutaneous bilirubinometer ?

- this can only be used in strict parameters eg in babies who have a gestational age of 35 weeks or more and who are over 24 hours old and have not received phototherapy treatment

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thresholds for neonatal jaundice treatment

- the nice guidance states that if the bilirubin levels are greater than 250micromol/litre then the serum bilirubin levels will need to be checked and treatment given.

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treatment for jaundice
how does this work?
what is the dose determined on?

- phototherapy and use of visible light
- light lowers the serum bilirubin levels by transforming bilirubin into water soluble isomers that can be eliminated without conjugation in the liver
- the dose of phototherapy is determined by the wavelength of

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what is important to consider when preparing a baby for phototherapy?

- eyes are covered
- testicles covered
- no barrier creams used
- temperature is maintained
- maintain oral feeding
- monitor elimination
- check serum bilirubin levels are at regular intervals

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what are the possible complications of phototherapy ?

- temperature instability
- fluid disturbance
- diarrhoea
- possible burning
- possible testicular damage

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implications of phototherapy for the family
what can midwives do to support this?

- anxiety
- explain and reassure
- encourage regular skin to skin and cuddles
- provide written information ie leaflets

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what are the challenges of phototherapy ?

- separates baby and parents
- eye coverage is necessary which may upset some parents
- unstable body temp if phototherapy delivered whilst baby in cot they may need incubator
- feeding may be affected

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blood spot test
what does this screen for ?

- can improve help and prevent disability
- sickle cell, cystic fibrosis, congenital hypothyroidism, inherited metabolic conditions eg, maple syrup urine disease each of these can result in children not being able to process certain substances and they c

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risks involved with the heel pick test
is it compulsory?
when does it need to be done for most effectivness?

- pain
- bleeding
- infection
- scarring
- not compulsory
- day 5

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what can help the baby when preforming the blood spot check

- skin to skin
- feeding/ breast or bottle
- cleaning foot prior to procedure

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equipment needed for the procedure

- lancet
- gloves
- gauze
- sharps box
- Correct BST card

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why may samples be rejected for the blood spot test?

- a poor sample or technique eg layering of the blood or compression of the blood spot
- incorrect details or NHS number
- a sample taken earlier than day 5
- out of date card

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what screening is offered to the baby after birth?

- new born blood spot check on day 5
- new born physical examination by 72 hours
- newborn hearing screen
- infant physical examination at 6-8 weeks

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what to look out for when examining the
genitaila - and to confirm to sex of the baby
what does indetminate mean?

male - testes palpable in scrotum and urethra at the top of the penis ?
female - looking at the ******** and ***** which may appear large any discharge?
buttocks - are they intact ? perforated ?
indetminate - unclear if male or female

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What is the NIPE programme ?
when is it offered to newborns ?
what does it relate to?
when is the optimal time to carry this procedure out?

- test which is offered to newborns within 72 hours after birth and then again between 6-8 weeks by GP or health visitor

- relates to the heart, eyes, hips and testes
- within 24 hours after birth - optimal time

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NIPE assessment of the heart
what is it trying to detect?
what should be done if detected?
what are the risk factors of the disease?

- trying to detect CHD (congenital heart disease)
- refer for senior paediatric review within 24 hours
- risk factors - family history of CHD, cardiac abnormality suspected from antenatal scan, maternal exposure to viruses eg rubella during early pregnan

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NIPE assessment - the hips
what is it trying to detect?
what should be done if detected ?
what are the risk factors ?

- trying to detect developmental dysplasia of the hip which results in hip instability
- if positive an ultrasound scan will be done within 2 weeks, if it was negative but risk factors then ultrasound after 6 weeks
- risks - first degree relative family

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NIPE asessment - the testes
what is it trying to detect?
what is the referral process?

trying to detect cryptorchidism (undescended testes)
- bilateral undescended testes (both testes in the scrotum) consult paediatrtion within 24 hours of newborn examination
- unilateral undesneded testes (1 testes in scrotum) - let nature take its course

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what are the risk factors the NIPE assessment - the testes

- first degree family history
- low birth weight
- small size for gestational age or preterm birth

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NIPE assessment - the eyes
what is it trying to detect?
what is the referal timescale?
risk factors ?

- trying to detect congenital cataracts
- appointment by 2 weeks of age
- risk factors - family history, genetic syndromes eg trisomy 21, prematurity, exensive port wine stain which can go on to cause glaucoma

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what are teratogens?

- any agent that can cause abnormality following fetal exposure during pregnancy
eg thalidomide that was used to treat morning sickness
- smoking, alchol, drugs

- working enviroments with exposure to radiation

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what are the 4 main types of teratogens ?

physical agents - sauna, hot tubs that can cause hypothermia
metabolic conditions- diabetes - low blood sugar can cause fetal malformations, malnutrition and thyroid disorders
infection - eg rubella, herpes and syphilis, toxoplasmosis from cat litter
-

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first initial examination of the newborn
what is this process documented as ?

APGAR score -
- appearance - colour
- pulse - heart rate
- Grimace - response to stimuli
- activity - muscle tone
- respiratory effort

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