Birthing People With Genetic Conditions Flashcards
(19 cards)
Who is involved in clinical genetics?
Family, clinical genetic service (Dr + genetic counsellor), cytogenetic laboratories molecular, genetics labs, support groups, other medical departments
What do clinical genetics do?
Diagnose/confirm a genetic condition, assess referred patients and relatives’ level of risk of a genetic condition, provide required info, provide psychological support, make recommendations e.g. surveillance, make referrals to appropriate agencies/professionals
What are the aims of genetic counselling?
Understand the medical facts, appreciate the way heredity contributes to the disorder and recurrence, understand the options for dealing with recurrence, choose the course of action which seems appropriate to them, make the best possible adjustment to the disorder
What are the core principles of genetic counselling?
Autonomy of the individual or couple, patient’s right to full and complete info in a form they understand,preservation of confidentiality, aimed at facilitative decision making with time to explore all options
What are the referral pathways for clinical genetics?
Patient contacts clinical genetics directly (self-referral),via community health practitioners e.g. GP, health visitor, midwife, practice nurse, secondary care practitioners.g. Oncologist, on/gyn, paediatrician, clinical labs and clinical genetics department
Who is offered a referral?
People who suspect they have a genetic condition p, people with a family history of a genetic condition, pregnant people or those trying to conceive with genetic issues, people with a strong family history of cancer,infants and children suspected of having a genetic condition
What is the incidence of cystic fibrosis
1:25 Caucasians are carriers
Incidence of babies born with it in the uk is 1:2500 (NICE, 2017)
Describe the general pathophysiology of CF
The CFTR protein regulates the movement of ions across the epithelialcell membranes. When it’s not working the salt Ions become trapped in the cells therefore water cannot hydrate the cells and so mucus covers the cells to become dehydrated, thick and sticky. Thick mucus flattens cilia so they cannot remove pathogens from airways
Describe how CF affects the respiratory system?
Build up of thick mucus. Decreased movement of cilia to remove pathogens and altered ion transport allow bacteria
Pathogens cause inflammatory response this repetition can lead to airway destruction
Describe how CF affects the pancreas
The tubes are blocked with mucus so digestive enzymes build up in the pancreas causing inflammation and the pancreas is unable to make enough bicarbonate to neutralise the HCl which can contribute to GI symptoms
Describe how the liver is affected by CF
Bile becomes more sticky causing irritation and inflammation of the ducts, leading to fibrosis and cirrhosis. The ducts can be obstructed by gallstones
How are the intestines affected by CF
Undigested food from lack of enzymes can cause pain, cramping, gas and either loose stools o constipation and blockages . Lack of bile stops the breakdown of fat
Describe pre-conception care for CF
Early info about sexual and reporting issues in adolescence
Offer specialist psychological advice in relation to fertility (NICE 2017)
Health review for people planning a pregnancy under a consultant and team
Avoid conception whilst having an infection
Nutritional advice
Review of medication
Offer referral to clinical genetics
Offer screening for carrier status
As life expectancy is lower for pregnant CF women the do pre-pregnancy lung function
What are the antenatal care referrals
Consultant led pathway team of specialist physicians, nurses, dietitians and physiotherapist
If did not have preconception care offer referral to clinical genetics
Refer to consultant anaesthetist for early review
Health promotion
Medication adherence
Lung function
Encouraging exercise including pelvic floor with physiotherapist
High energy diet plus oral nutritional supplements
Regular BMI and weight gain assessment
GTT pre conception or booking then repeated at 28 weeks
Fetal growth USS in 3rd trimester
Labour care for CF women
Choice of birth depends on lung function
Avoid GA, low dose epidural is suitable
Consider high dependency care and continuous maternal and fetal monitoring
Avoid prolonged pushing and valsava pushing
Postnatal care for CF women
Care on HDU if impaired lung function
Early mobilisation and physiotherapy to increase air entry
Support baby care and balance self care
Support BF, ensure adequate calory intake
Contraception: combined pill, depot injection
Neonatal considerations
Genetic tea if status unknown or routine NBST
Preterm care promote BF, thermoregulation,
