Genetic Testing – To Test or Not to Test

pexels-photo-277017.png– TO TEST, OR NOT TO TEST –

This is such a difficult question for so many of us. Do you proceed with all of the available genetic testing that your clinic offers, or do you forgo? You not only have the option of  getting yourself and your husband tested to find out if you are a carrier for genetic disorders, but you can also test your embryo’s to find out if they are healthy and disorder free. Each of us struggles with this aspect of IVF in our own way. For me I struggled to make the right decision with regards to my faith. I was being pulled in one direction telling me “you’re not supposed to have the option to choose for yourself”, I also would have thoughts of “playing God” and selecting my own destiny rather than having faith, and trusting that God knows what is best for me. Then I would be pulled in another direction where I felt that God wouldn’t give me the option of IVF if he didn’t support me in this. Another pull came from wanting to be a mother and knowing that I would love my children no matter what. Another pull came from my gut and my soul. I felt as though, if I was going to go through all of “this” to have a family, I want to give my children the best. I want to give my children quality of life, and not be selfish That may sound harsh, but by selfish, I mean that I didn’t want to have a baby and be irresponsible in any way. In my mind, it wouldn’t have been fair to have a child who would suffer, because of my own selfish desire to be a mother. So, we dove into the world of genetic testing.

Karyotype Testing

A karyotype is an organized profile of a person’s chromosomes. Two chromosomes specify sex, XX for female and XY for male. The rest are arranged in pairs, numbered 1 through 22, from largest to smallest. This arrangement helps scientists quickly identify chromosomal alterations that may result in a genetic disorder.

What do the doctors look for?

  • The karyotype test looks for missing, extra or abnormal positioning of chromosomes
  • These signs can be a marker for Down Syndrom, trisomy 18, sickle cell anemia, cystic fibrosis, Tay-Sachs, just to mention a few

How is this test done?

  • You or your spouse will elect to do a blood draw
    • only one of you needs to elect to do this test to begin with. If the initial test comes back negative, this indicates that the person tested does not have any missing, extra or abnormally positioned chromosomes
    • the second person only needs to have a blood draw and be tested if the first test came back indicating any additional, missing or abnormal results
      • the clinic will then be looking to see if both biological parents are a carrier for genetic disorders. This increases the likelihood of passing down a disorder to your embryo’s
  • The lab will send this off for testing and contact you with the results

Preimplantation Genetic Screening (PGS)

What is PGS?

This refers to a process of the embryologist’s retrieving one or more cells from an embryo created through in vitro fertilization, before it is transferred to the uterus. This process is extremely sensitive and done under a high power microscope in a lab. The cells that were removed are tested for chromosomal normalcy (no extra, missing or abnormally positioned chromosomes).

So what do you do…this is a decision that is unique to every couple and every woman. It requires a lot of consideration, time and soul searching to know what is best for you and your family. Follow your heart and your gut when it comes to this decision, and once you’ve made it, don’t look back.

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