Unit 2 - KA4 (Antenatal and Postnatal Screening) Flashcards
What is antenatal screening?
A variety of techniques which can be used to monitor the health of the mother and the developing foetus
What does antenatal screening identify?
Identifies the risk of a condition or disorder so that further diagnostic test can be carried out
What is antenatal care?
Mother is closely monitored during pregnancy
What is the first ultrasound given?
Dating stage - 8-14 weeks - foetal measurements taken
What is the second ultrasound given?
Detecting foetal abnormalities - 18-20 weeks
What is a screening test?
Detects signs and symptoms associated with a disorder, degree of risk is assessed
What is a diagnostic test?
A definitive test which establishes without doubt whether the baby is suffering from a specific disorder
What is a diagnostic biochemical test?
Routine blood and urine tests which are carried out throughout pregnanacy
What are biochemical markers?
A series of tests that check for different medical markers
What are the two main types of diagnostic testing?
- Amniocentesis and Chronic villus sampling
What is amniocentesis?
Small volume of amniotic fluid is extracted and it contains foetal cells - cultured to produce a karotype. Risk of a miscarriage
What is chorionic villus sampling?
Involves the taking of a small samaple of placental cells - cells are cultured and used for karotyping
What is genetic screening?
The study of a persons DNA in order to identify genetic differences
What is genetic counselling?
Advice given to prospective parents concerning the risks of genetic disorders in a future child
What are pedigree charts used for?
Used to analyse patterns of inheritance
What is autosomal recessive inheritance?
A trait expressed relatively rarely, all suffers are homozygous recessive.
What is autosomal dominat inhertitance?
Trait appears in every generation, every sufferer has an effected parent, all non suffers are homozygous recessive
What is autosomal incomplete dominance?
Fully expressed form happens rarely, partially expressed form happens more often, non suffers are homozygous dominant.
What is sex-linkage?
Genes carried on the same chromosome are said to be sex linked
What is Sex linked recessive?
Many more males affected by females (if any). all sufferers are homozygous recessive Xh Y or Xh Xh
What is postnatal screening?
The screening of newborns shortly after birth for a list of conditions that are treatable.
What is PKU?
A rare gentic disorder that is present from birth The body is unable to breakdown an amino acid called phenylalaiane which then builds up in the blood and brain if left untreated.
What is the treatment for PKU?
A protein restricted diet which is low in phenylalaianine and the taking of daily supplements
What is the diagnostic test for PKU?
A blood test done a day or two after birth. Carried out after baby has ingested some protein
