→ only performed on women who are thought to be at higherrisk of delivering a child with birthdefect
CHRONIC VILLUS SAMPLING (CVS)
When :
9-19weeks
CVS
Obtains a specimen of foetalcells from the chorion
Cells are examined in a similar way to those gained by amniocentesis
CVS
Used to :
Detect geneticdisorders
Detect biochemical abnormalities
CVS
Risks :
Miscarriage following the procedure is 2%
CVS
Advantages :
Foetal tissue gained through CVS can be tested more quickly
Can be doneearly
BLOOD TEST
Mother’sbloodtest is a non-invasive prenatal test
Possible due to some of the baby’s DNA passing into the mother’s blood
BLOOD TEST
Screeningtest, not a diagnostic - able to identify if there is an increasedchance of the baby having a certain disorder, doesnotconfirm whether baby has the disorder
BLOOD TEST
When :
Available from approximately week 10
BLOOD TEST
Used to screen for :
Down syndrome
Edwards syndrome
Patau syndrome
Turner syndrome
If they show an increasedchance of an abnormality, amniocentesis / CVS would be recommended to confirm the diagnosis
FOETAL MONITORING
The regularrecording of baby’sheart rate to detectindicators of stress
FOETAL MONITORING
Use ultrasound and electrocardiography
Procedure for recordingelectricalchanges in the heart
Produces electrocardiogram (ECG), showing series of waves related to electricalimpulses that occur during each heartbeat
Results are printed on paper / displayed on monitor
FOETAL MONITORING
When :
During labour and birth
FOETAL MONITORING
Used to :
Identify any risk of injury to the foetus so appropriate action can be taken
Record baby’sheartrate / mother’scontraction during labour and birth
Check whether there is any risk of oxygendeficiency occurring which could result in brain damage / stillbirth
FETOSCOPY
Fetoscope is an instrument used to gain information about a foetus in the uterus
Two types :
Stethoscope
listens to the foetus’sheartbeat
Fibre-opticscope - looksdirectly at the foetus through a small, telescope-likeinstrument with a diameter about the size of a largehypodermicneedle
Introduced into the uterus through abdominalwall
FETOSCOPY
Used to (fibre-optic scope) :
Detect cleftlip and palate
Missing / abnormalears
Deformed / absentlimbs
Spinalabnormalities, incl. spina bifida
FETOSCOPY
Risks :
Difficultprocedure only done by specialist doctor
FETOSCOPY
Usually done afterultrasound has indicated possibility of foetalabnormalities (e.g. spina bifida, Duchenne muscular dystrophy)
FOETAL BLOOD SAMPLING
Used to :
Diagnose chromosomal abnormalities
Diagnose foetal anaemia
Check foetal oxygenation
Identify infections
Give medication
FOETAL BLOOD SAMPLING
Blood taken from :
Umbilicalcord via percutaneousumbilical cord blood sampling (PUBS)
Needle is inserted through abdominal wall and uterus into umbilical vein
Foetalbloodvessel, usually the liver or heart, via a fetoscope
FOETAL BLOOD SAMPLING
Advantage :
Results are obtained within a fewdays
Risks :
1-2% chance of miscarriage
Infection
Blood loss
Premature rupture of amniotic sac
BIOCHEMICAL ANALYSIS
Assessment of marker proteins - occurs with all newborns
BIOCHEMICAL ANALYSIS
Used to :
Detect phenylketonuria (PKU)
Test blood for excessive amounts of phenylalanine
Analysing urine for phenylpyruvic acid
Measure levels of alpha-fetoprotein (AFP) in amniotic fluid
Concentration is high when foetus has malformation of spinal cord
DNA PROBES
Enables the detection of a range of genetic disorders
DNA PROBES
Used to diagnose:
Duchenne muscular dystrophy
Thalassaemia
DNA PROBES
Based on recombinant DNA technology
Segment of DNA is used that is structurallyidentical to the gene being tested
Some units in DNA segment are ‘labelled’ with a dye or radioisotope
DNA probe is joined to gene in question
If the gene is normal, DNAprobejoins with the DNA segments with which it is structurallyidentical and shows them up
If it is an abnormal gene, it doesnotshow up and is identifiable as a gap in DNA being tested.