First trimester screening in Germany Part III-X

Positive blood test result

So basically the doctor and the result told us that “judging from one value, I am bearing a higher likelihood to carry a fetus with Trisomy 21.” And how high is this likelihood? 1:74 What is the average ration? 1:300

placeholder: the test result

The doctor repeats again and again that this finding does not entail that our fetus is not healthy. What it indicates is a likelihood. A statistical likelihood. A chance.

She said that the physical formation of the Nuchal translucency (NT: Nackentransparenz) did not find any noticeable sign. It is from her experience that she could say, if the blood test is positive, and the NT looks good, the chance that the fetus ok is high. When the blood test is negative and the Nuchal scan does not look good, then the chance that the fetus might have chromosomal disease is then higher. In short, she relies on/ has trust in the Nuchal scan result.

My partner asked her, “what does [to be healthy] mean at all in this context?” As far as I understand, here we only talk about Trisomy 21, a.k.a. Down Syndrome. What he wants to know whether it would be a physical or mental disability and if so, how severe it will be.

The doctor kind of deflected this question. She is indeed right. This test result, bearing a 90% accuracy, does not conclude anything about my fetus. Neither does the report indicated anything clearly. It only states that “this test result needs further clarification.” Rather how this value in my blood behaves in comparison to others in the statistical model. And I am sure that this test cannot tell more specific about the individual development in the future.

What are the next options?

Options are to take that second test, the more expansive, genetic blood test as suggested from the beginning (link to Part I-X). And if that result would also be positive, then Amniocentesis will then be suggested. That genetic test introduced a near 100% accuracy on detecting Trisomy 21 (99.9%). And if we do that, my blood sample will be taken and then we will need to post it to the company ourselves.

This cell-free fetal DNA test has to be practiced by practican and the result will only be sent to them, not to the client. It takes about 3 working days.

My emotional state

I would describe myself at that moment, impatient, stressed, indifferent. I somehow distanced myself far from the actual situation. The rational part of me and the scientific training part of me, I know that the first test result nearly did not say anything. The “bearing a fetus” part of me was in full denial. I was angry, tough and ready to fight. Yes, like any female mammal with a baby.

On top of it, I am not the most patient person on the planet. Each of these tests requires a certain amount of execution steps and waiting time.

NOW!

I asked if we could be tested now. If not, I could come by before the end of the afternoon session. As mentioned in Part II, the whole team was very much on our side. They let us wait and plan to test me immediately.

In addition, the doctor wanted to practice another ultrasound examination. Even in the most undefined mental state, I was still able to ask her about the necessity of this practice. She told me that she wants the actual length of the fetus on the day of blood sampling.

But I was only here three days ago. …

Anyway, I agreed.

Ultrasound number 5 within two months??

I asked my partner to wait outside as the clinic is small and full of only female human beings waiting. The assistants invite him to stay. We were sent to the lab room. I again had to sign a contract and the nurse asked whom of us will filled in the bank account to be charged later.

To wind the tape forward, in fact within three days, my fetus had grown about 1 cm longer. And last time my partner was not there. It was nice that he could see our fetus on that day despite the situation.

For me, it was very very bad. Or mixed. I was happy that it grew, of which the doctor suggested that it is a good sign, a growing fetus is a good indication of a healthy development. The bad part was that I saw its brain.

The doctor also careful examines the Nuchal translucency and said that nothing is suspicious till that moment. I was playing delightedful, or nothing had happened. I expressed my gratitute and we went to post the box.

To post my blood in a box

This is a commercial deal, this test. It comes with a test kit, some papers and a paperbox and a waterproof envelope. The assistant packed it and gave it to us. My partner kept wanting to go to the next DHL express station to speed up the delivery process. And I told him that it will end to the same result if I pay more for a Morning Express at our local post office.

I convinced him to let me first ask at the main post office and if not, we will drive further. So we took our bikes and went home to take the car.

It was a box of my blood. Two tubes.

Anyway, at the main post office, the man was kind and told me that it is a Postbox Number at the envelop so I cannot send it as an express package. If I insist, I can pay for tracking this box, but it does not speed up the delivery process. So I decided to let it go. As a “normal letter.” Yes, my biological information in a paper box.

To leave the city

I asked my partner if we could leave the city? On our way, I called the company to ask what would happen if the blood sample stay in the post office over the weekend. She told me that this sample can stay 7 days from sampling till reaching the lab.

It is really quite something. All these genetic test and human information.

We went to IKEA and the restaurant was only open till 15:30 during the weekdays. We left to the exit for hotdogs and wraps.

Am I traumatized?

I cried a lot. In rounds. At any moment when I thought of anything related to a potential lost or an abortion. Now that I think of it, I never thought of anything related to a disorder or any kind of person with disability in the future. What I really did not want was that this fetus, after three months living with us, leaving my body.

to be continued…

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