B1 YOU AND YOUR GENES

What tests or treatments are available for women who are pregnant or thinking of starting a family and who are at risk of passing on this mitochondrial DNA?

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B1 YOU AND YOUR GENES
A) What tests or treatments are available for women who
are pregnant or thinking of starting a family and who
are at risk of passing on this mitochondrial DNA?
Mitochondrial DNA (mtDNA) mutations cause a wide range of
serious genetic diseases with maternal inheritance. Because of
the high transmission risk and the absence of therapy in these
disorders, at-risk couples often ask for prenatal diagnosis
(PND). However, because heteroplasmy load (coexistence of
mutant and wild-type mitochondrial DNA may vary among
tissues and with time, the possibility that a single fetal sample
may not reflect the whole neonate impedes prenatal
diagnosis of mitochondrial DNA diseases.
There are some tests are available for pregnant women and
who are at risk of starting a new family. Doctor can perform
what is called an amniocentesis. They stick this needle into
your stomach they use a little bit of fluid from around the
baby since it contains DNA and compare it to the potential
father, however unless there is some very strong indication
for it you are better waiting until after the baby is born as
there is a small risk of miscarriage with amniocentesis.
B) What are the medical and ethical issues around this
testing?
There are might be some medical and ethical around this testing,
but this test is not 100% safe and is not 100% right. In my opinion
people who thinks there baby will carry the mutated

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DNA about 50% I think they should do the test so
they can be sure, and they can decide what they going to do with
the baby (whether they want the baby or they don't want it).
C) Who should be making decisions about whether or not
families should be helped in this way?
The decision about this is really important and hard to make
because this decisions will effect on the baby's live.…read more

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