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Printable Handouts
Navigable Slide Index
- Introduction
- Genetics in medicine
- Genetic disorders & congenital malformations (CM)
- Frequency of rare single-gene disorders
- Genetic disorders and CM: morbidity and mortality
- Modes of inheritance
- Incidence of genetic disorders
- Causes of congenital malformations
- Maternal diabetes and congenital malformations
- Holoprosencephaly
- Structural congenital malformations (all births)
- Goal and purpose of prenatal diagnosis
- Prenatal diagnosis (or PGT)
- Prenatal diagnosis adult onset genetic disorders
- Prenatal secondary/incidental findings
- Prenatal secondary/incidental pathogenic variants
- Key prerequisites for genetic counseling
- Melancholy by Albert György
- Ethical principles
- Directive or non-directive genetic counseling
- Decisions by patients
- Examples
- Parents/individuals rights
- Confidentiality
- ABC vs. ST. Georges Healthcare NHS Trust
- Truth
- Risk and the power of words: case on point
- Risk and the power of words
- Duty to warn
- Duty to warn: Safe vs. estate of Pack
- Duty to warn: Pate vs. Threlkel
- Duty to warn: Molloy vs. Meier
- Fragile X syndrome
- Duty to re-contact
- Ancestral burden
- Clinical variability
- Velocardiofacial syndrome
- Summary
Topics Covered
- Genetic counseling
- Prenatal genetic diagnosis
- Congenital malformations
- Ethics
- Confidentiality
- Law
Links
Series:
Categories:
Talk Citation
Milunsky, A. (2022, June 29). Genetic counseling: preconception, prenatal, perinatal [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 31, 2024, from https://doi.org/10.69645/UOTU5349.Export Citation (RIS)
Publication History
Financial Disclosures
- Aubrey Milunsky discloses his self-published book.
A selection of talks on Clinical Practice
Transcript
Please wait while the transcript is being prepared...
0:00
Welcome to this
Henry Stewart talk.
The focus this time is
on genetic counseling:
pre-conception,
prenatal and perinatal.
My name is Aubrey Milunsky.
I am the Founder and Director of
the Center for Human Genetics
in Cambridge, Massachusetts.
Previously, I was a
Professor of Human Genetics,
Pediatrics, Obstetrics and
Gynecology and Pathology
at Boston University
School of Medicine.
Now, I am at Tufts University
School of Medicine
as an adjunct Professor.
This talk is focused on
the issues of trying to
avoid catastrophes that could
otherwise have been prevented.
0:42
The first slide has
to do with the issues
that occupy genetic medicine.
As you'll notice,
this is a very important slide
showing that there
are more than 7000
rare genetic disorders
that we know about.
About 1 in 12
people worldwide on
average are carriers
of a genetic disorder.
There are now known
more than 4331 genes
and their mutations with
actual clinical phenotypes.
You'll notice also in the
next line that there are
some 6739 clinical phenotypes.
You might ask, why is that the
case when there's only
that number of genes?
The obvious answer is
that there are some genes
that cause more than one single
clinical appearance or phenotype.
There are also more than 2000
congenital malformations
syndromes,
not all of which
are simply genetic
in the sense of being
inherited or transmissible.
Also, there are more than
1000 different carrier tests,
mostly genetic carrier tests.