What is genetic testing?

amother

Lawngreen

Mon, Aug 06 2018, 4:18 am

We had a child who had a condition that needed surgery shortly after birth. They offered us to do genetic testing and at the time I turned it down.

I am now pregnant again and they offered again to do it (Baruch HAshem all is well with this pregnancy).

I don’t exactly understand what it is, how it’s done, the purpose, or how it is helpful.

Can anyone explain?

WhatFor

Mon, Aug 06 2018, 4:38 am

Genetic testing would generally test the genes of the parents and/or child to see if anyone tested is carrying a genetic abnormality, or is carrying a gene that is associated with health issues or other conditions.

The purpose of this varies. For an individual (including fetus/babies) it can sometimes help to identify a disorder or condition so they may know how to treat it.

For parents, it may be used to screen whether they can have healthy children together or whether they would need to use IVF to have healthy children together.

People test genes for many reasons and those are just a couple.

amother

Gray

Mon, Aug 06 2018, 7:31 am

There are two possibilities for your older child's medical condition.
1. A "random mistake" happened while the organs were forming .
2. The child has a genetic mutation that directed the body to grow in that "abnormal" way.

If it's the first reason, you shouldn't see any more medical problems for that child or other children.
If it's the second, it's helpful for that child to identify the genetic mutation so you can be on the lookout for other medical problems that go with that mutation. Also, if you identify a mutation in that child, you can see if other children in your family have the same condition.

For example, most kids with hearing loss have just that and nothing else. A few kids with hearing loss also have specific kidney problems. So if you offer genetic testing to kids with hearing loss, you can figure out which ones need extra screening for their kidneys before they have severe kidney problems.

amother

Jade

Mon, Aug 06 2018, 1:20 pm

amother wrote:

I would ask if there are any known, identified genes associated with the diagnosis that your other child had. And I would only genetically test the baby you're carrying if you find something in your child's genetic testing, AND if it would make a difference to the pregnancy/birth/immediately following birth. Because testing a fetus is a lot more risky than testing a person.

dancingqueen

Mon, Aug 06 2018, 2:00 pm

amother wrote:

Most preliminary prenatal genetic testing is done by taking blood from the mom, not the fetus.

Op, did you never do Dor Yesharim? That is an example of genetic testing.

amother

Lawngreen

Mon, Aug 06 2018, 2:39 pm

Op here

When they asked both times, it seemed they were asking to test me and my husband. It didn’t dawn on me that they would test my child too.

Thank you all for the information. It was very helpful.

amother

Jade

Mon, Aug 06 2018, 2:44 pm

dancingqueen wrote:

Most preliminary prenatal genetic testing is done by taking blood from the mom, not the fetus.

What kind of prenatal genetic testing is done on the mom's blood?

amother

Teal

Mon, Aug 06 2018, 4:12 pm

Will your insurance cover a visit to a genetic counselor? I used to work for one and she was fantastic at explaining what they test for and why they test certain individuals first and others later if needed. She also discussed the ramifications of all the possible results. Going to a genetic counselor does not obligate you to do the testing, but it will give you a lot more information to help you decide what you want to do.

shabbatiscoming

Mon, Aug 06 2018, 4:18 pm

dancingqueen wrote:

Most preliminary prenatal genetic testing is done by taking blood from the mom, not the fetus.

Op, did you never do Dor Yesharim? That is an example of genetic testing.

I would assume based on her question as to what genetic testing actually is, that she did not.

Many couples do not test though DY.

amother

Purple

Mon, Aug 06 2018, 8:34 pm

I strongly strongly suggest getting yourself and your husband tested. My husband and I did not get tested before marriage. We did so after we were already married and found out that we are both carriers for the same genetic disease. Had we not known about this we would have had a 1/4 chance of having a child with this condition (we are doing IVF with PGD). I thought there was no point in getting tested- what are the chances? well it does happen. There are same panels that can test for hundreds of mutations.
Even if you wouldn't do anything different (do IVF or terminate pregnancy due to a baby with a certain condition) it is still very helpful to know what to look out for in case the odds are it's possible for you to have a child with one of the diseases tested for. (in order for the child to receive timely medical help).
Insurance may cover it or there are places that will do it for very little money if you do not have a high income. It is worth it.

amother

Purple

Mon, Aug 06 2018, 8:36 pm

Oh and btw you can get tested first and if you are found to be a carrier your husband can get tested to see if he's a carrier for those specific ones that you are (instead of having to do the whole panel- though I'm not sure if this is cheaper) (or the other way around...he can be the one do the whole panel)