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    Integrated screening: 1/100,000

    June 23rd, 2010

    Huh,

    So the results have changed since the last time the integrated screening was done. First off, the screening is performed by the state, which is new (at least to my pregnancy experience) and the results seem a bit different.

    I just got a letter with the results from my first, and second trimester blood draws, combined with the NT screen. They are as follows:

    – less than 1/100,000 risk of Down Syndrome for my current age, and 1/100,000 risk for my age of egg retrieval.

    – less than 1/100,000 risk for Trisomy 18, and 1/100,000 risk for my age of egg retrieval. This is the one that’s been tormenting me the most

    – less than 1/10,000 risk for Smith-Lemli-Optiz Syndrome, Chromosome Abnormalities and SCD (Fetal Demise), based on current age

    – well below the 2.5 cutoff for neural tube defects, based on current age

    So S2 is looking well so far on the gambling wheel of health issues. While this doesn’t promise us 100% that he won’t have these issues, the chances of it are really low and this makes me happy. Dr. M (who got these results even before I did) said that this is as good as she gets to see, so I’m going to live stress free for a bit.

    I am actually looking forward to next week’s Big U/S. Having the Bulgarian u/s is actually helping me in that regard, in the sense of things looked good, organ wise 2 weeks ago, and I feel optimistic the diagnosis will be confirmed.

    Keep bakin’ kiddo!


    Things that could have been brought to my attention YESTERDAY!

    May 12th, 2010

    … to quote the memorable Adam Sandler.

    I received a note from the clinic that will be performing my NT scan tomorrow. It was a very pleasant, informative letter on the genetic testing that will be performed, how and when it will all be done, etc. All is well and good, until I read this line: “this screen provides individualized information about your baby’s risk of Down syndrome by combining your age, results ….” Wait a minute!!!

    My age??? My age when? Now, or when this baby was conceived?

    So I called the number at the bottom of the letter, which encouraged me to call should I have any questions. My conversation went something like this:

    Me: Yes, I was calling to ask for more information on the genetic screening. You indicated that maternal age is a risk factor. Is that current maternal age, or the maternal age when the child was conceived? Because my child was conceived 2.5 years ago!

    Her: Uhmn…. let me have you talk to one of our nurses.

    Yeah, I’m sure there was some head scratching going on. Ensue conversation on fertility treatments, and being transferred over to a nurse.

    Here’s the part that got me. The nurse asked “Well, did you tell us that you had a donor egg?”

    Me: No. We didn’t use a donor. It was my egg.

    Nurse: Well, the donor question also applies to embryos used in frozen cycles too.

    REALLY? Well then frikkin’ say so, because when the phlebotomist took my blood and asked me about using a donor she was oblivious to other applications of that question. As was I — the scope of the question is pretty darn narrow. I responded “No.” (since it WAS my egg & S’ soldiers), but that we did go through IVF. No further questions were asked. No “Did you use previously frozen eggs, sperm or embryos?” Nothing.

    So tomorrow when we get our preliminary results we’ll need them to re-run the calculation with my adjusted age. Also that they’ll need to inform the state of the change.

    Fun stuff!

    I’m looking forward to the scan though. Wish us (and most importantly the wee one) a healthy bill o’health.