So Dave and I decided to go ahead with the blood tests (chromosome testing) that my doctor recommended at our post IVF consult.  At this point, we are confident that the acupuncture is helping and are excited to go back to try an IUI to see if I have better egg quality and number.  For me, there is something unsettling about not knowing what  is causing our infertility – it’s always been a broad diagnosis of premature ovarian failure, but why?  It just doesn’t make any sense.  I’m 29 yr old and healthy.  So, even though we were quite against the blood tests when they were first mentioned,  we have begun to understand the purpose of them at this point and feel ready to go ahead with them and hopefully  get a better diagnosis.

 After speaking with someone who had the testing done and found out she did have an abnormal chromosome, it made me feel a little better about going forward with it.   She said it helped her to move  ahead with adoption instead of wasting a lot of time, energy, and money into assisted reproductive procedures that were never going to work due to this particular genetic abnormality. 

Getting results on these tests have such an impact on your life, they recommend a genetic counselor to receive the results.  It can be extremely hard to receive such results that indicate an abnormality that may cause infertility or a child with severe abnormalities.  At the same time, I think it will provide peace knowing there is a reason for the infertility and that we can move forward full force with adoption. 

Last week I had the blood drawn at my clinic and so I will receive the results directly and will have to fax them to my fertility doctor.  It’s nice that I will get to see them first, but probably won’t completely understand the results until someone goes over them with us.  The tests performed were  Chromosome Analysis and Fragile X. 

Chromosome Analysis is a study of the number and general structure of all 46 chromosomes; it is also known as a karyotype.  In a standard karyotype, chromosomes from cells in the body (usually white blood cells) are counted to ensure that the cells evaluated have the correct number of chromosomes, and their structure is evaluated to ensure that there are no large pieces of material that are missing (deleted), extra (duplicated), or rearranged in any way.  

Hundreds of different types of chromosome abnormalities causing well described syndromes have been reported in humans. They fall into 2 categories:   numerical and structural.  A numerical chromosome abnormality simply means that a person has a total number of chromosomes different from 46; usually 47 or sometimes 45 chromosomes, in each cell of their body, respectively. Health problems and birth defects are usually present as  a result of having the extra or missing genetic material.  An example of a numerical chromosome abnormality is Down syndrome, which is typically caused by having an entire extra chromosome 21, for a total of three copies of chromosome 21 instead of two.

The other type of chromosome abnormality, structural, means that a portion of the genetic material has been rearranged in some way; for example, a piece of one chromosome may be attached to another chromosome (translocation), or a piece of a chromosome may be turned upside down (inversion).  A rearrangement may or may not result in obvious health problems. This depends on whether the structural problem ultimately results in a net gain or loss of chromosome material. If the chromosome material is simply in a rearranged fashion, yet all of the genetic information is present, the person may have no clinical symptoms; this is known as a “balanced” rearrangement. However, this type of chromosome rearrangement can cause the individual to have an increased chance for pregnancy losses or infants born with birth defects.  This is because chromosome rearrangements can make it difficult for the genetic information to be divided equally between each egg/sperm cell. If this occurs, and then that egg or sperm cell is used in reproduction, there can be too much or too little genetic material in the resulting fetus. The pregnancy is "unbalanced" chromosomally, and may

miscarry or result in the birth of a child with health and/or learning problems. About 1 in 500 persons in the general population carry a rearrangement in their chromosome material. Persons with family or personal histories of multiple pregnancy losses, unexplained stillbirths, or early infant deaths, may be at a slightly greater chance to have a rearrangement in their chromosomes.

Chromosome analysis is recommended as a routine diagnostic procedure for a number of

indications, but obviously for us it was due to infertility.  Chromosome abnormalities can be seen in one or the other parent in approximately 3-6% of infertility or recurrent miscarriage cases.  It’s not very common at all, but we might be that 3-6% of couples and if we are, we are ready to know. 

The thing about chromosome testing is it’s never 100% accurate, just like most things in the medical field.  For example, even when both parents have normal chromosomes and the baby has a normal chromosome study on an amniocentesis, there is still a 2-3% chance for the baby to have a birth defect. My mother and sister never had an amniocentesis performed during their pregnancies, which of course is highly advised.   The struggle I think I have with it, like my mother and sister did, is if something is wrong with the fetus- it’s still a fetus and there’s nothing I can do to change it at that time.  We don’t believe in abortion so it almost seems purposeless to complete such a test. 

The stark reality is that most of the time when an abnormality is found, the baby is aborted. Even those who go into the testing feeling like they would not choose abortion often do end up choosing abortion anyhow if a problem is diagnosed.  Although the ultimate choice is of course up to the individuals involved, there is a great deal of strong pressure for women with "abnormal" fetuses to have an abortion.  Doctors usually assume that of course a woman who has a fetus with a birth defect is going to terminate the pregnancy.  Although officially they state that these tests are for information only, unofficially women report subtle but very significant pressure to abort a pregnancy with abnormalities.  

Some couples will still do an amniocentesis even after firmly deciding that they would never choose abortion, no matter what the results are so they will know of any problems ahead of time and feel they will be more prepared.  For me, this would cause more worry and stress during the rest of the pregnancy and the anticipation of a healthy baby would be gone early on.  I have heard numerous stories of couples who were told their baby had abnormalities via amniocentesis and the baby was born perfectly healthy.  How many babies out there have been aborted that would have been completely healthy, thriving children right now?   I know this topic is so heavy and my intention is not to preach to anyone, I’m just expressing thoughts as they run through my head and the discussions Dave and I have had plenty of time to have as we wait for our baby to be created.

Fragile X was the other blood test recommended by my doctor.  Fragile X syndrome is caused by an abnormality in a single gene. Fragile X syndrome is caused by a mutation (change) in a gene called FMR-1 located on the X chromosome. 

Each of us has 23 pairs of chromosomes, or 46 individual chromosomes. The pair of sex chromosomes (X and Y) determines whether a person is male or female. Normally, females have two X chromosomes, and males have one X chromosome and one Y chromosome. Because females have two X chromosomes, a female who inherits one X chromosome with the abnormal FMR-1 gene still has the other unaffected X chromosome. Therefore, females are affected by fragile X syndrome less frequently than males. When affected, females tend to have less severe symptoms than males. Males generally are more severely affected because they have only one X chromosome, and it contains the abnormal gene. 

The mutation that causes fragile X syndrome is a genetic “stutter.” This means that a small section of genetic material within the gene is repeated too many times. Most people who do not have fragile X syndrome have between 5 and 40 repeats of this section of the gene. People who have more than 200 repeats of the gene have fragile X syndrome. More than 200 repeats is called a full mutation. A full mutation causes the gene to turn off and not make the protein it usually makes. The protein normally is found in many types of cells but mostly in nerve cells. Scientists think the protein helps brain development and may help nerve cells in the brain communicate.  

Fragile X syndrome gets its name from the appearance of the section of the X chromosome where the gene mutation occurs. In certain conditions under a microscope, the section of the chromosome looks fragile, as if it is dangling by a thread. 

We are awaiting the results on these tests, and praying for God to give us clear answers as we seek to do his will. We pray for clarity in the next steps of our journey and discernment for the big decisions ahead of us.  We pray that these results no matter what they are can provide a peace in our hearts.  
8/17/2011 12:52:53 pm

praying for you and Dave, K.... much love.


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