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genetic counseling
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genetic counseling
pre-lecture 5
Dr and Mrs Sunarto are from Jakarta. Dr. Sunarto age 40 is a surgeon and Mrs. Sunarto age 38 is a corporate lawyer. They just have their first child and diagnosed as Down syndrome. Please arrange your genetic counseling for this family
Akbar Aulia Bahar
pre lecture 5
Background Theory
background theory
It is a chromosomal anomaly
Trisomy (3 copies) of chromosome 21 happens in 1/800 live births
Random occurrence that happens due to trisomy of chromosome 21 within one of the gametes
It is not heritable (Some rare cases 4% of chromosome 21 translocation may be inherited); accurate diagnostic using pedigree table is highly unlikely
Strongly associated with increased maternal age ( 35 years old 1/250)
diagnosis
diagnosis
step 1
(informed consent)
informing
Informing of the benefits, risk, and limitation genetic testing
Elucidating the family about their pedigree tree and determine whether it is due to trisomy of chromsome 21, or roberstonian translocation of chromsome 21 (which is inheritable)1
elucidating
Negative family occurrence means that it is a trisonomy case
Translocation in parents determines that this condition is inherited
Pre-natal
diagnostic for suspetion (before birth) using non-invasive NGS study testing done by Palomaki, Lambert-Messerlian, et all.2
pre-natal
Physical examination
(after birth) for the baby, and confirmation if the baby has down syndrome or no
physical examination
education
education
step 2
Discussion of the condition including the occurrence, natural history, prognosis, and management for the condition
discussion
by drawing a simple pedigree or by analyzing the maternal or paternal chromosomal translocation that causes this condition to be inherited
IF the condition is inherited
Supportive Counseling
supportive counseling
emotional support
Emotional support is very important, as the parents are experiencing many different spectrum of negative emotions
what to do
Help the family express their emotion, respect what they are saying, and maintain confidentiality
follow up
Follow Up
It is a chromosomal anomaly