Genetic Counseling

Six months before I decided to get pregnant, my husband and I sought genetic counseling.  We wanted to understand the odds and reality of having a child with spina bifida.  My sister was born with Myelomeningocele; when I was 25, a MRI revealed that I have an arachnoid cyst on the bottom of my spine – a neurologist surmised that it was most likely related in some way to my sister’s diagnosis.  I had spent a quarter of a century undiagnosed (common for most people with spina bifida occulta).  The doctor recommended genetic counseling before I actively tried to get pregnant.

Before our visit, I did a lot of research regarding SB – I knew that SB was the leading birth defect in the country; high instances of SB are found in coastal areas (a particularly interesting discovery as my family is from Savannah, Georgia); high fever or hot baths /Jacuzzis had been linked to the birth defect; I found out that the population with the highest rates of SB is white females and the cause of this common birth defect was unknown.  I went to our appointment armed with information – I was sure that I would be told that the risk of having a baby with a neural tube defect would be significantly high.

However, the news wasn’t so cut and dry – or as dreary.  My genetic history made me a greater risk – but not that much.  Apparently, I am only 3% more likely to have a baby that has spina bifida than the average woman.  Three percent seemed like an arbitrary number but somehow the lady was able to conclude based on the family history that I was able to provide that my risk wasn’t that much more greater than any other woman of childbearing age.  It was recommended that I take four times the normal dosage of folic acid for 3 months before I began trying to get pregnant and I be classified as high risk.  On the one hand, it wasn’t likely for there to be a problem; on the other, no chance was too great, I should be carefully monitored.  This process eased my mind as I embarked on the journey of having my own family – and it provided me with a greater understanding of not just my own family medical history, but my husband’s as well.

Seeking genetic counseling allowed us to understand the odds and what we learned was that the odds were in our favor.  For us, regardless of the outcome, we would love any child we are blessed to have – the outcome of the genetic counseling would not have swayed our intent on having a child.  But understanding our medical history and arming ourselves with knowledge and resources became very important as we embarked on starting a family.

There are many benefits to genetic counseling – especially if you are considered a high risk for any type of birth defect.   Educating yourself on not just the risks to your future family, but resources available for persons with disabilities is important. The March of Dimes offers  several resources for families interested in genetic counseling (see link below).  The first step is to talk to your healthcare provider and see if they can recommend a genetic counselor affiliated with the local hospital.  Once you’ve set up your appointment, gather as much medical information and history on you, your partner, and your families.  Together, you and the GC will fill out a family medical tree and from that information, judgments can be made.  In some cases, further tests may need to be run on genes or, in some cases if you are already pregnant, an amniocentesis may be performed to determine if there is a defect and the severity.

For us, the experience with genetic counseling provided us with the security to begin our family.  I think that everyone, no matter the genetic history, should counsel with their own families and become aware of family medical history, you never know what you might find – we discovered that twins runs on my husbands’ side.

- lk herndon

One Response to “Genetic Counseling”

  1. Colleen says:

    Neither of my sisters had genetic counseling. However their physicians were able to assure them that the odds of them having a child with SB, were not much more than the average woman’s even with my history of having myelomeningocele. Ultrasounds provided the reassurance that they were having a normal pregnancy, and all of their children were born perfectly normal. I was always happy to hear about the results of the ultrasounds. However, I always pointed out to my sisters that although my life has been complicated because of this birth defect, I still have lead a good life…thanks to the support provided by my parents.

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