Family Planning and Genetics

For people with a genetic condition, as for
any woman who is planning to get pregnant, it’s very important to have good health going
into the pregnancy, and there are things you can do just before and during a pregnancy
to help make the baby healthier. Things like making sure that none of your medications
might affect the developing child, or make it more risky for you during the pregnancy,
having good nutrition and other good health habits during the pregnancy also can really
help the health of the baby. What I know is that also it’s passed down from generation
to generation, like especially the myotonic dystrophy, is passed down from generations
and it gets worse over generations. So I know there’s a 50-50 chance that my kids might
have this and I know that it will get worse over the years as I grow up. If a young adult
is interested or starting to think about starting a family in the future, it would be important
for that individual to start thinking about when they would like to start having a family
and if they are already in a relationship to potentially start to discuss that information
with their partner. Together or by themselves they could see a genetic counselor who works
in the prenatal world who can work through with them things like important screening
that’s needed for that person, recurrence risks, inheritance patterns, any kind of testing
that could be offered if a person were interested in doing screening or testing in pregnancy.
We encourage them to plan their pregnancies. We’re always kind of enforcing, “when you
are planning your pregnancy,” we would suggest that you meet with a preconception genetic
counseling group, which usually there’s a genetic counselor, and usually an adult geneticist.
Genetic counselors and geneticists have overlapping roles. The role of a genetic counselor is
to work with families, especially with regards to the psychosocial and emotional challenges
that can come about when discussing genetics either with family members, or partners, or
even other clinicians who are involved in your care. We spend a lot of time counseling,
and trying to get to the root of what can be difficult about discussing this information,
and also coming up with strategies to help overcome those difficulties. A geneticist
main role is to address the medical piece of the diagnostic process, as well as the
follow-up and the specific referrals that need to be made. It is important for couples
to realize that there is no one genetic test that is available that can actually rule out
every single genetic disorder. The testing that is available is mainly geared towards
diagnosing differences in your chromosomes. Chromosomes, we consider them to be little
packets of DNA, so most of the testing that is done in the prenatal period is geared towards
looking for an extra chromosome or a missing chromosome, and you can get finer scans where
you can see smaller changes. If you are interested in sort of assessing your genetic risk for
having a child with a certain medical disorder, your options are available at different points
before you have your child. Depending on what your ethnic background might be, if you havea
risk for a genetic disorder just based on your ancestry, or if there is an actual family
history of a certain genetic disorder. Keeping track of family history is becoming quite
popular and there are a number of tools online, that’s the most important thing, family history
to ask relatives about conditions they ever had, talk to uncles and aunties about things
that have been present in all generations, particularly what people often forget about
is members of the family who have been lost, who have died. That information is also very
important. It is considered beneficial for all couples to have prenatal genetic counseling,
because any couple at any age, it’s not just women who are much older than 35, who are
at risk for genetic disorders. We have found that even with a common disorder like Down
Syndrome, the majority of our couples who have children with a chromosomal abnormality
will be younger than 35 and that’s because couples who are younger have more children.
It’s important to remember that you are much more than just your medical condition and
to be sure that you’re exploring as full a life and the possibilities that are open to
you as you can. A person can find their local genetic counselor by looking on the internet
at the National Society of Genetic Counselors, or NSGC. The website has a search tool on
there where you could just type in your location or zip code and it will pop up a list of local
genetic counselors. You can either look for counselors who specialize in the prenatal
world, in pediatrics, cancer and other subspecialties. If there is a mom or a dad affected with a
genetic condition and they would like to find a Maternal Fetal Medicine group, the connection
is made through the obstetrician and gynecologist. Whenever the pregnancy is recognized and they
have that initial visit, depending on what the risks are for the mom, because you always
have to consider what tht effect of the pregnancy will be on the mom, but if there are any potential
risks for the baby, the referral to Maternal Fetal Medicine is usually done through the
obstetrician. When I think about the future and my children having children I think we’re
really lucky that we know as much as we do, because we know that they’ll be have to get
testing, we know they’ll both need to go through things, but we know that there’s a chance
of a healthy pregnancy and that we can have the healthy pregnancy and bring them into
the world, so I feel very very lucky that we will know and we will have those things
to help us through the process.

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