Foray into prenatal genetic counseling, screening & testing

by SI on September 26, 2012

My first cycle of Clomid failed. I didn’t ovulate at all with 50 mg of Clomid. My Ob-gyn has increased the dose to 100 mg for my next cycle. I am disappointed but I also wanted to take this opportunity to get some genetic counseling done before I conceive. No, I am not a crazy person who is trying to complicate her life even more than it already is. I have good reason to be bothered about this.

Two of my cousins were mentally and physically challenged. I spent most of my time in my teen years with one of these cousins. I loved him to the core and saw him suffer every single day. He passed away when he was 11. Every single day of the 11 years he lived was painful. If I am predisposed for any of the genetic defects, I do not want to get pregnant.

So, I voiced my concerns to my Ob-gyn during my recent visit. She said there are some tests I could take that will tell me for sure if I had a possibility of passing on any genetic defects and suggested genetic counseling.

Genetic counseling vs Genetic screening vs Genetic testing

Before my appointment with the genetic counselor, I wanted to do some research to get an idea of what I was getting into. I was nervous and had many doubts. Some scientific, some emotional. My most emotional one being, how confident will the result of these tests be? If they come back and say I have a “chance” of passing defects will I still take the risk and pray that I don’t pass it on or will I stop trying to conceive because I might or might not pass on my genetic defects?

During my search I came across these three terms – Genetic counseling, genetic screening and genetic testing. First, I thought they were being used interchangeably and they all mean the same.  Turned out they are not.

  • Genetic counseling : Genetic counseling involves sitting and talking to a genetic counselor about various tests that are available and what might be the best tests for me depending on my family history. The genetic counselor is simply a guide who helps us navigate the information and choose the best set of tests.
  • Genetic screening : Genetic screening shows the chance of me being a carrier of a genetic defect.
  • Genetic testing aka diagnostic tests : These are done only if my genetic screening turns out positive for any of the defects I was tested for. From the definition of this term, I was assuming that this will give a fairly certain answer on whether I should try to conceive or not, but after talking to the genetic counselor it looks like even with these tests nothing is certain. It merely gives the screening results an extra nod.

What types of questions were asked during the genetic counseling?

As soon as we got to the doctor’s office, along with 10 pages of insurance information, we were also given a genetic counseling intake package. That package consisted of 3 different sets of forms -

  1. Family history form
  2. Genetic screening/testing options and interest form
  3. General consent & policy form.

Family history questionnaire : This was a 4 page document that went over a LOT of medical problems and asked whether anyone in my family had any of those. Some of the conditions that were mentioned in the form - Down’s syndrome, spina bifida, mental retardation, mental illness,brain abnormalities, muscular dystrophy, seizures, heart disease, stroke, clotting, kidney defects, cystic fibrosis, limb abnormalities, cleft lip/ cleft palate, multiple miscarriages, stillbirth, neonatal deaths & infertility. We marked if anyone in our families had any of these problems and if they did, who had those problems and more information about the problem itself.

Genetic screening/testing options and interest form : This form listed the types of tests available (see below), a description of each of those tests and if we were interested in talking about any of these in particular.

General consent & policy form : This is a standard legal mumbo jumbo form that said what information will be shared with the insurance company (none) and that we are responsible for all the fees if our insurance denies the claim.

We filled all of those and waited for 30 more minutes. They didn’t get a preapproval from my insurance for the counseling so they called it in while I was waiting. After getting the approval a young lady greeted us and said she will be going over some of our concerns.

She went over the family history questionnaire we filled out and explained about each of the tests and what we will learn from those tests.

Genetic testing : What types of tests were available?

There were four tests that we could take before getting pregnant. Most of the tests seem to be done during the early months of pregnancy (prenatal genetic screening/testing). The four tests our genetic counselor offered us were:

Fragile X syndrome screening (FXS): Fragile X syndrome is the most common cause of learning disability right after Down’s syndrome. This syndrome is typically passed from the mother and is caused by a mutation to a gene in the X chromosome(hence the “X” in the name of the syndrome) . The counselor told us that I could be tested to see if I am a carrier.

Fragile x syndrome screening

Spinal Muscular Atrophy screening (SMA) : Spinal muscular atrophy is a collection of different inherited muscle diseases. They cause progressive muscle degeneration leading to death. 1 in 40 to 1 in 60 people are a carrier of this gene. To be affected by this disorder, the defective gene must be present in both the parents. So I will be taking the test and if I am not a carrier, we don’t have to worry about it even if my husband is a carrier.

Cystic Fibrosis Genetic Screening test (CF) : It is a common, chronic lung disease among children. As no one in our families had any lung disorders, our counselor said we don’t have to worry about this test.

Spina Bifida genetic screening test : Spina Bifida literally means “open spine”. Spina bifida is a disorder that involves incomplete development of the spinal cord which leaves a section of spinal cord uncovered. Usually spina bifida is tested for during the early stages of pregnancy and can be treated. From reading up online, it seems like no one actually knows what causes Spina Bifida. So I am not sure what they are screening for here, but our counselor suggested this test if we had any miscarriages in our families.

So at the end we opted to be tested for Fragile X syndrome, Spina Bifida and Spinal Muscular Atrophy. And the great news is our insurance covers the testing so we don’t have to pay for anything.

Do you need genetic counseling, screening and/or testing?

I went for genetic screening because of our family history. I wouldn’t have thought about it otherwise. Talking to various people about this in the last couple of weeks and after filling out the ginormous family history questionnaire, I figured it is good to go for genetic counseling/screening/testing if one or more of the following fits you -

  • You will be 35 years of age or older on your due date (My doctor showed me a table that had the risk of Down’s Syndrome by age. As one ages the odds of having a child with Down’s Syndrome increases. At the age of 30, the odds are about 1 in 1000, at age 35, it increases to 1 in 400 and by 45 it is 1 in 30).
  • You, your partner or anyone in your families had any type of genetic disorder or defects.
  • You and your partner are blood relatives.
  • You, your partner or anyone in your families had multiple miscarriages and stillbirths.
  • If you or your partner’s ethnic background increases the risk of passing on a genetic disorder (example : Sickle cell anemia, High-risk groups include people of African, Caribbean, South or Central American, Mediterranean, Indian, or Arabian descent).
  • You are concerned about having a baby with genetic disorders and generally want to learn more about it.

So that is our experience on Genetic counseling. I have taken the tests and we were told that someone would call us only if there is a problem. I am hoping to never get a call back from them!

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{ 1 comment… read it below or add one }

Jennifer October 28, 2012 at 11:36 pm

I just came across your site here, I just wanted to say keep your head up PCOS is not the ending only a speed bump. i’ve been through 50 MG of clomid , 100MG of clomid , 150 MG of clomid, Injections to help ovulate ( which worked) and 3 IUIs . next year I’m probably moving to IVF but at least I know what works for my body and when the time is ready IVF here I come. So keep going you’ll find the right things that work for you eventually. Smile.

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