Maternal Serum Screening

Report
Genetic Counselling
Katherine Ruivenkamp
Associate Genetic Counsellor
Genetic Health Services Victoria
Overview
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What is genetic counselling?
Case study
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Cystic fibrosis
How do you become a genetic
counsellor?
My background and job
What is Genetic counselling
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Information
Education
Counselling and support
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practical and emotional
decision making
Informed choices
Team work
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Medical geneticists
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Medically trained
Diagnosis & management
Syndrome diagnosis
Management advice (ie. Cancer)
Management clinics (ie. bone dysplasias)
Other health professionals
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Obstetricians, Oncologists, Gastroenterologists,
Social Workers and more
Where do genetic counsellor’s work
in Victoria
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The Royal Children’s Hospital
The Royal Women’s Hospital
Monash Medical Centre
Mercy Hospital for Women
Royal Melbourne Hospital
Peter MacCallum
The Alfred Hospital
Rural & Regional Victoria
Genetic Counselling
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Family history of single gene disorder eg: cystic
fibrosis, haemophilia, muscular dystrophy,
hemochromatosis, Huntington disease
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Carrier testing, predictive testing
Recurrence risk counselling eg: NTD, Down
syndrome, Prader Willi syndrome, chromosome
abnormalities (translocations, deletions)
Prenatal screening and testing counselling
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Screening tests (NT, MSS)
Diagnositic tests (CVS, amnio)
Genetic Counselling
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Pregnancy Counselling
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Pre-conceptual
Consanguinity
Following diagnosis of fetal abnormality
Teratogen exposure
Support after fetal loss or genetic diagnosis in
child
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Grief counselling, support groups, community resources and
other health professionals
Genetic Counselling
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Speciality clinics (diagnosis, advice & management)
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Cancer
Dysmorphology
Neurogenetics
Bone dysplasias
Metabolic
General discussion about genetic issues
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Genetic testing of children eg: CF carrier testing, cancer
syndromes
Value, if any, of genetic testing
Impact of genetic information on family unit
Case: Cystic fibrosis (CF)
“Thanks
for seeing John, a 28 year old
man whose sister died of Cystic
Fibrosis last year. John is concerned by
the genetics of this condition and is
requesting screening.”
CF- information
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Pre-counselling intake
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What is CF?
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Digestive & respiratory system
Incidence of 1 in 2500
Genetics
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Pedigree, information gathering, make
appointment, elicit questions/concerns
cystic fibrosis transmembrane conductance
regulator (CFTF)
Genetic testing (Over 1000 mutations)
Inheritance
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Autosomal recessive
CF- inheritance
Carrier parents
C c
x
Unaffected
no CF gene changes
homozygous unaffected
25%
Cc
cC
}
CC
carriers
1 CF gene change
heterozygous
50%
C c
cc
affected
2 CF gene changes
homozygous affected
25%
CF- Carrier risk
C c
x
CC
Cc
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C c
cC
2/3 chance
cc
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CF- Counselling Issues
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Grief & loss
Living with CF & pre-existing knowledge
Prior risks
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Possible results from carrier testing
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Risk of affected child: 2/3 x 1/25 x ¼= 1/150
Carrier: 1 x 1/25 x ¼= 1/100
Non-carrier: low risk
Options if a carrier
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Testing of partner
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Partner carrier: 1 in 4 risk of affected child
Partner non-carrier: low risk
Prenatal testing, or IVF & PGD
Limitations of genetic testing
Genetic Counsellors
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Health professionals with varied backgrounds
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Post graduate course in Genetic Counselling
(1 yr)
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Nursing, teaching, social work, science etc
University of Melbourne, Melbourne
Griffith University, Brisbane
Newcastle University, Newcastle
Charles Sturt University, by correspondence
Human Genetics Society of Australasia
certification (minimum of 2 yrs)
Other pathways for Genetic
Counsellor’s
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Education
Research
Support Groups
Further studies
Ultrasound practices
IVF practices
Genetic Counselling:
Ms Margaret Sahhar
Convenor – Graduate Diploma in
Genetic Counselling
10th Floor Royal Children’s Hospital
Ph: (03) 8341 6256
[email protected]
My Background and Job
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Background: BSc, MSc (Genetic
Counselling)
First job: Maternal Serum Screening
Current Job: Monash Medical Centre

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