Obs & Gynae 2 Flashcards
With regards to screening, define ‘detection rate’.
The proportion of individuals who will be identified by screening test.
With regards to screening, define ‘false positive rate’.
The proportion of unaffected individuals with a higher risk/screen positive result.
With regards to screening, define ‘false negative rate’.
The proportion of affected individuals with a low risk / screen negative result.
Name 3 antenatal screening programmes.
- Fetal Anomaly Screening Programme (FASP): Down’s, Edward’s, Patau’s screening
18+0 - 20+ week anomaly scan - Infectious Disease Screening Programme:
Hep B, HIV, Syphilis - Sickle Cell and Thalassaemia Screening Programme
Name 3 Newborn Screening Programmes
- Newborn blood spot screening programme:
CF, Congenital hypothyroidism, Sickle Cell disease, Inherited metabolic diseases (x6) - Newborn hearing programme
- New born + 6-8 week infant physical examination screening programme.
Which chromosomal abnormality is Down’s Syndrome associated with?
Trisomy 21
If a child is diagnosed with Down’s syndrome, which diseases are they at increased risk of developing?
- Childhood Leukaemia
- Epilepsy
- Thyroid disorders
- Alzheimer’s disease
- 40-45% have a heart defect.
Which chromosomal abnormality is Edward’s syndrome associated with?
Trisomy 18
Babies with Edward’s syndrome have an extra copy of Chromosome 18 in each cell.
What is the prognosis for a baby diagnosed with Edward’s Syndrome?
- Most die before they are born, are stillborn, or die shortly after birth
- Babies have a wide range of serious problems:
> heart problems
> unusual head and facial features
> major brain abnormalities
> growth problems
Which chromosomal abnormality is Patau’s syndrome associated with?
Trisomy 13
> Babies with Patau’s syndrome have an extra copy of chromosome 13 in each cell.
What is the prognosis for a baby diagnosed with Patau’s syndrome?
- Most die before they are born, are stillborn, or die shortly after birth
- Associated with multiple severe fetal abnormalities
> 80% have congenital heart defects
> holoprosencephaly
> abdominal wall defects
> urogenital malformations
> abnormalities of hands and feet
Which screening test is used in the first trimester to screen for T21, T18 and T13?
What do the results of this test mean?
Combined test:
- Nuchal translucency measurement (at 11+2 - 14+1 weeks)
- Serum testing: PAPP-A and free b-hCG
Results: Produces two risk results: one for T21 and another for T18/T13.
What is the cut off threshold for offer of diagnostic testing following the combined screening test in the 1st trimester of pregnancy?
Cut off threshold: if the screening test shows that the chance of the baby having Down’s, Edward’s or Patau’s is less than 1 in 150, this is called a ‘Lower Risk’ result.
Which screening tests are offered in the 2nd trimester for T21, T18 and T13?
Quadruple test
- Offered if combined screening not possible: late booker, nuchal translucency not obtained.
- Uses serum markers only: Alpha feto protein, total b-hCG, Estriol and Inhibin A.
- Offered at 14+2 - 20+0 weeks
What factors should you take into account following screening using the quadruple test (2nd trimester of pregnancy)?
- Scan measurements
- Mother’s date of birth
- Serum markers are reported as ‘Multiples of the Median’
- Levels of some markers are affected by ethnicity, smoking, and diabetes
- Mother’s weight is required (as serum levels will reduce with greater blood volume).
What should you do following ‘Screen positive’ results (following pregnancy screening tests)?
- Telephone to screening midwives
- Appointed to fetal medicine unit within 3 days
- Offered diagnostic test: CVS or Amniocentesis
What is the risk of miscarriage following CVS / Amniocentesis?
1 in 100 for a single pregnancy.
1 in 50 for twins.
What alternative is there to CVS / Amniocentesis
- Do nothing
- NIPT (Non-invasive prenatal testing) -> this is NOT available on the NHS. **unless you live in Wales & deemed to be at higher risk **
Describe the principles of non-invasive prenatal testing as a screening tool.
- Only available in the private sector
- Screening test analyses fragments of fetal DNA in maternal blood
- Can be done from 10 weeks of pregnancy
- Predicts the risk of T21, T18 and T13.
- Predicts fetal gender
- Up to 99% detection rate
0. 1% false positive rate.
The fetal anomaly screening (ultrasound) programme offers women a minimum of 2 scans during pregnancy (NICE, 2016).
At what points in her pregnancy is a woman offered these scans? What do the scans screen for?
10 - 14 weeks: Early Ultrasound Scan
> pregnancy dating
> confirm viability
18+0 - 20+6:
> identify structural anomalies
The timing of the scans allows for further diagnostic tests, if required. Ensures women have time to consider decisions about continuing their pregnancy.
The Early USS is conducted at 10 - 14 weeks. What does this screen for?
- Gestational age
- Fetal demise
- Multiple pregnancy
May also reveal: - Fetal abnormality
- Increased nuchal translucency
The mid-pregnancy scan is conducted at 18+0 - 20+6. What is it designed to identify?
- major abnormalities which indicate the baby may die shortly after birth
- conditions that may benefit from treatment before birth
- to plan delivery in an appropriate hospital / centre
- to optimise treatment after the baby is born
- to provide choices for the woman and her family about continuance or termination of the pregnancy.
How are pregnant women screened for infectious diseases?
Blood test (at any stage of pregnancy where the woman presents for care).
Which infectious diseases are screened for in pregnancy?
- HIV: treatment can improve mother’s prognosis and reduce risk of transmission to the baby.
- Hep B: Look for current infection (usually chronic). This will allow for vaccination of the baby and reduce the risk of transmission to baby.
- Syphilis: identify infection. Treatment to prevent congenital syphilis and to prevent complications for the mother.
How are haemoglobinopathies inherited?
What is the chance of inheritance if both parents are carriers?
- Recessively inherited
- 1 in 4 chance of disease in the baby if both parents are carriers.
Give an example of a quantitative blood disorder
Alpha & beta thalassaemia
Give an example of a qualitative blood disorder.
Sickle cell disease
Give a brief overview of sickle cell disorders.
- Sickling disorders are variable in life. Affected people need antibiotic prophylaxis.
- Experience painful crises when RBC sickle -> blocks capillaries and deprives tissues of oxygen.
Give a brief overview of alpha and beta thalassaemia.
Alpha thalassamia major: incompatible with extrauterine life.
Beta thalassaemia major:
- Results in life-threatening anaemia.
- Requires blood transfusions every 4-6 weeks + iron chelation therapy 5-7 times a week.
What are the aims of Sickle Cell & Thalassamia screening?
- To identify women who are carriers / possible carriers
- To test partners of screen positive women
- To identify ‘at risk’ pregnancies
How is the antenatal screening for Sickle Cell & Thalassaemia carried out?
- Haematological test
- Recommended early in pregnancy (8-10 weeks), or pre-conceptually.
- Screening and offer of diagnosis by 12+6 weeks.
Following a screen positive for Sickle Cell / Thalassamia, what should be done?
- Appt with baby’s father to discuss partner samples
- If both parents are carriers of significant haemoglobinopathy -> prenatal diagnosis offered
- If father not available, prenatal diagnosis offered on maternal results only.
- Termination of an affected foetus can be offered
- May wait for diagnosis after birth (blood spot).
What are the principles behind the new-born blood spot?
- Screen for 9 conditions
- Enable early detection (before symptoms develop)
- Early treatment to prevent irreversible damage
- Parental consent: may decline any or all tests
- Heel prick blood test at 5-8 days of age
- National failsafe system to account for each baby.
List the 6 inherited metabolic disorders which babies are screened for.
- Phenylketonuria (PKU)
- MCADD (Medium Chain Acyl Co-enzyme A Dehydrogenas Deficiency
- Maple Syrup Disease
- Isovaleric Acidemia
- Glutaric Aciduria Type 1
- Homocysteinuria
What are the implications if an inherited metabolic disease (IMD) is positive on the newborn blood spot?
- IMDs can result in sudden life threatening illness / lead to developmental problems.
- Request repeat newborn blood spot if any screen is suspected to be positive.
- Positive results: parents are contacted by a specialist nurse & referred for follow up to relevant paediatric specialists.
- Sibling protocols to be used in future pregnancies.
Explain the principles behind the newborn hearing screening.
- Identify profound hearing loss
- Test prior to discharge home / within 4 weeks of birth
How is the newborn hearing screening conducted?
- Automated otoacoustic emission identifies response in cochlea to soft sounds from earpiece.
- May need repeat test!
If hearing loss is suspected / identified on the newborn hearing screening, what are the next steps to be taken?
- Audiology assessment
- Initial assessment & support
- This is designed to be a failsafe system to account for each baby.
When are NIPEs conducted?
1st: within 72 hours of birth
2nd: by a GP at 6-8 weeks
Why are NIPEs conducted?
Identify babies who need early treatment; to improve health and prevent long term disability.
Give 4 examples of the problems a NIPE might identify.
- Eye problems: eg congenital cataracts.
- Congenital Heart Defects
- Developmental Dysplasia of the hips
- Undescended testes.
What is ‘informed consent’?
The process by which a fully informed patient can participate in choices about their healthcare.
What is the legal term for failing to obtain informed consent before performing a test / procedure on a patient?
Battery (it is a form of assault).
Explain the concept of patient autonomy.
- The right of patients to make decisions about their medical care, without their healthcare provider trying to influence the decision.
- Allows for healthcare providers to educate the patient, but does not allow the healthcare provider to make the decision for the patient.
What is ‘competency’?
Competency: a legal term used to INDICATE that a person has the ability to make and be held accountable for their decisions.
* Technically, a person can only be declare ‘incompetent’ by a court of law.
Before seeking a woman’s consent for a test, treatment, intervention or operation, what 5 things should you ensure that she understands?
- The nature of the condition for which it is being proposed
- Its prognosis
- Likely consequences
- The risks of receiving no treatment
- Any reasonable or accepted alternative treatments.
List the 5 elements of ‘full, informed consent’.
- The nature of the decision / procedure
- Reasonable alternatives to the proposed intervention
- The relevant risks, benefits, and uncertainties related to each alternative.
- Assessment of patient understanding.
- The acceptance of the intervention by the patient.
When is it appropriate to question a patient’s ability to participate in decision making?
- Stress associated with illness
Competent patients have the right to refuse treatment. What should you do in the event of a refusal?
- Explore reasons for refusal
- Honour a refusal if a patient is competent.
Can a woman refuse an emergency C-section for fetal distress?
Yes
Does the unborn baby have any rights?
No
A woman needs an emergency C-section due to fetal distress. What are the laws surrounding abortion in the UK, in the context of this scenario?
- Cannot terminate after 24 weeks.
- Mum can refuse treatment that will save the baby, if the baby is in distress.
Consent to screening is required. Give some issues which might be associated with screening.
- Uncertainties involved in screening: false positive / false negative
- Some findings may have potentially serious medical, social or financial consequences, not only for the individual but also for her relatives.
What complications might congenital rubella cause the baby?
- Deafness
- Brain damage
- Heart defects
- Cataracts
CVS and Amniocentesis are examples of invasive prenatal diagnostic methods. When are these carried out during the pregnancy?
What is the risk of miscarriage with these tests?
CVS: 10 - 14 weeks gestation
Amniocentesis: 15 - 24 weeks gestation
Risk of miscarriage: 0.5 - 1%
What considerations might a woman think about, when deciding whether to have CVS / Amniocentesis?
- Risk of bringing an affected foetus to term; vs
2. Risk of losing a health foetus.
With current diagnostic testing, most pregnancies of foetuses with Down’s syndrome are terminated. What issues might arise from this?
- increased number of terminations of such pregnancies
If, over time, prenatal diagnosis nearly eradicates the population of individuals with Down’s syndrome:
- will funding for research and treatment be affected?
- will funding of social services and support systems be affected?
- will stigmatisation of the condition increase as its prevalence decreases?
List Lord Fraser’s recommendations as applied to Gillick Competency.
- The doctor should assess whether the patient understands his/her advice.
- The doctor should encourage parental involvement.
- The doctor should take into account whether the patient is likely to have sexual intercourse without contraceptive treatment.
- The doctor should assess whether the patient’s physical / mental health are likely to suffer if she does not receive advice / treatment.
- The doctor must consider whether the patient’s best interests require him/her to provide contraceptive advice / treatment without parental consent.
Consent and Ethics in O+G can be very difficult. Where is support available from?
- MDU: Medical Defence Union
- MPS: Medical Protection Society
- Ethical Committees in NHS Hospitals.
At what gestation is a baby considered to be premature?
Before 37 weeks.
What are the parameters for:
i) Low birth weight infants
ii) Very low birth weight infants
iii) Extremely low birth weight infants
i) LBW: <2500g
ii) VLBW: <1500g
iii) ELBW: <1000g
Give 4 conditions which can be attributed to prematurity.
- Developmental delay
- Visual impairment
- Chronic lung disease
- Cerebral palsy
Improvements in neonatal care have contributed to improved survival figures of premature infants. Give 5 such improvements.
- Antenatal steroids
- Artificial surfactant
- Ventilation
- Nutrition
- Antibiotics
What are the 2 classes of risk factors for pre-term births (PTB)?
- Non-Recurrent
- Recurrent
List 3 ‘non-recurrent’ risk factors for pre-term birth.
- Antepartum haemorrhage (APH)
- Other vaginal bleeding
- Multiple pregnancy
List i) 2 ‘immutable’ and; ii) 3 ‘amenable to intervention’ recurrent risk factors for pre-term birth.
i) Immutable recurrent RFs:
- Race
- Previous preterm birth
ii) Amenable to intervention recurrent RFs:
- Genital infection
- Cervical weakness
- Socioeconomics
What is meant by ‘primary prevention of preterm birth’?
- Reducing population risk
NB: effective interventions not demonstrable yet.
Give examples of steps that might be taken in ‘primary prevention of preterm birth’.
- Smoking + STD prevention
- Prevention of multiple pregnancy
- Planned pregnancy
- Physical and sexual activity advice
- Cervical assessment at 20 - 26 weeks.
What is meant by ‘tertiary prevention of preterm birth’?
Treatment after diagnosis.
Aim: to reduce morbidity / mortality.
What steps might be taken in ‘tertiary prevention of preterm birth’?
- Prompt diagnosis + referral
- Drugs: Tocolysis, Antibiotics
- Corticosteroids
What clinical signs aid a diagnosis of preterm labour?
Persistent uterine activity AND change in cervical dilatation and / or effacement.
What clinical factors indicate a diagnosis of preterm labour?
Persistent uterine activity AND change in cervical dilatation and/or effacement.
What is encompassed in ‘secondary prevention’ of preterm birth?
Identify increased risk women for surveillance and prophylaxis.
What are the 2 screening tests for preterm labour?
- Transvaginal ultrasound
- Qualitative fetal fibronectin test
i) What is fetal fibronectin?
ii) Fetal fibronectin is an abnormal finding in cervicovaginal fluid after 20 weeks. What might this indicate?
iii) When does fetal fibronectin reappear (in the context of a woman’s pregnancy)?
i) Extracellular matrix protein found in choriodecidual interface
ii) May indicate disruption of attachment of membranes to decidua.
iii) Reappears close to term as labour approaches.
Why might false positive results arise following a fetal fibronectin test?
- Cervical manipulation
- Sexual intercourse
- Lubricants (* cause false negatives)
- Bleeding
Which hormone may benefit women at high risk of having a preterm birth?
How is the hormone administered?
Progesterone
IM injection or pessary
If a woman is suspected of going into preterm labour, what are the 5 treatment principles?
- Identify associated cause; treat, if possible.
- Assess fetal maturity
- Consider tocolysis and give steroids
- Decide the best route of delivery.
- Plan with neonatologists and in the best place. Consider in utero transfer.
List 6 factors which are associated / predispose to hypertension in pregnancy.
- Young female
- Black
- Multifetal pregnancies
- Hypertension
- Renal disease
- Collagen vascular disease
What are the 4 classes of hypertension in pregnancy?
- Gestational hypertension (only during pregnancy)
- Pre-eclampsia / Eclampsia
- Chronic HTN
- Pre-eclampsia superimposed upon chronic HTN or renal disease
Explain the concept of ‘Chronic Hypertension’ in the context of pregnancy.
HTN diagnosed:
- before pregnancy
- before the 20/40
- During pregnancy and not resolved post-partum.
Explain the concept of ‘Gestational Hypertension’ in the context of pregnancy.
Gestational HTN:
- New HTN after 20/40
- Systolic >140
- Diastolic > 90
- No or little proteinuria
- 25% develop pre-eclampsia
Explain the concept of ‘preeclampsia-eclampsia’ in the context of pregnancy.
- New HTN after 20/40 (or earlier with trophoblastic disease)
- Increased BP (gestational BP elevation) with proteinuria
- Eclampsia: features of pre-eclampsia plus generalised tonic-clonic seizures
What are the clinical parameters used to make a diagnosis of preeclampsia-eclampsia?
- Gestational HTN:
Systolic > 140
Diastolic > 90 - Proteinuria
> 0.3g protein / 24 hour
> +2 on urine dip specimen
What are the classifications of ‘preeclampsia-eclampsia’?
- Mild pre-eclampsia
- Severe pre-eclampsia
- Eclampsia
List the clinical criteria for severe preeclampsia.
- BP > 160 systolic, >110 diastolic
- Proteinuria
- Oliguria
- CNS: Visual changes, headache, mental status change
- Pulmonary oedema
- Epigastric / RUQ pain
- Impaired liver function tests
- Thrombocytopenia
- IUGR
- Oligohydramnios