Pregnancy diary 5.0: Drawing numbers in the genetic lottery

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Pregnancy diary 5.0: Drawing numbers in the genetic lottery
Pregnancy diary 5.0: Drawing numbers in the genetic lottery
Anonim

13. week

+2 kg

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This is the week when the average expectant mother starts to really enjoy her pregnancy. In the words of my doctor: you go on your honeymoon with the baby. Unpleasant symptoms such as vomiting, leaden fatigue, and the constant urge to pee are alleviated for most of us. The chance of spontaneous abortion is greatly reduced. We dare to admit the real reason for our grin to most of our acquaintances. But before we can finally sit back and stroke our bellies and start thinking about names, we have to go through one more baptism of fire: the genetic ultrasound. It's almost unbelievable that a generation ago, a mother could only find out if her baby had a genetic disorder when it was born. Whether this was a blessing or a curse at the time, let everyone decide for themselves.

Nowadays, in almost every developed country in the world where organized pregnancy care is provided, some form of screening for abnormalities is carried out at the end of the first trimester or at the beginning of the second. In Great Britain, where I live, the so-called combined test gives the most accurate results among the risk-free and non-intrusive tests that screen for chromosomal abnormalities. Intrusive examinations are never routinely performed (even over 35 years of age), unless it is seriously justified. The combined test takes into account the age of the mother, the level of two hormones in the blood, and the size of the water on the back of the head, which is measured by ultrasound. During the examination, the baby's anatomy, organs and size are also examined. The end result is not a definite answer as to whether there is a disorder, but a number that shows the chance of the disorder for the given expectant mother.

Due to my age (38), I don't start with the best chances compared to a 22-year-old. The chance that I will have a child with Down syndrome is 1 in 177. Which, although in many people's eyes, is frighteningly high, in mine it is not. The number above means that I have a 99.5 percent chance of having a he althy child. I'm mostly an optimist, and what optimist wouldn't buy the lottery if there was a 99.5 percent chance of winning? That's why I went into having children with a smile. Which isn't to say I wasn't a shaky nervous wreck like everyone else on test day.

Genetic tests and disorders are also surrounded by many misconceptions and taboos. For example, many people believe that the risk really increases after the age of 35, although in reality it increases continuously on a curve from the age of 25, with a more serious rise above the age of 38-39. But even at the age of 40, the chance of a genetic disorder is lower (1:105) than a spontaneous miscarriage, which can be caused by amniocentesis or chorionic villus sampling (this is approximately 1 percent). Another misconception is that the mothers of most children born with genetic disorders belong to the older age group. The truth is that since the most fertile age group is under 30, and they are traditionally examined less, the incidence is higher there. And the third misconception is that since women are putting off childbearing more and more later (in almost every country in Europe, the age of first-time mothers has increased by 2-4 years in the last 20 years), the dreaded disorder is also increasing in newborns. But this is not so. Fewer and fewer babies are born with Down's syndrome, for example, thanks to the widespread testing of the last couple of decades. And that brings us to the biggest taboo: what happens when doctors find an abnormality? We don't like to talk about it, we don't like to think about it, especially not when we're pregnant. Almost every expectant mother I know takes the position of "I'll deal with this when I have to" in the first trimester. However, the statistics show what usually happens: approximately 92 percent of expectant mothers do not keep the fetuses conceived with the disorder. After all, no one goes to the test with the thought that "now I will find out if I can pass it."

I would have liked to think that I was calm before the test and examination. Not once did I discuss the possible outcomes with my partner. I did not deal with the topic in depth, I did not hide the statistics. But when I was getting dressed on the big day and trying to button up my increasingly tight jeans, I noticed that I was breathing very heavily, even more than my "pregnancy, shortness of breath" state would suggest. And somehow everything fell out of my hands. We had to go far away, to the city center, to the professor who taught 11-13. developed a combined test risk calculation connected with weekly headwater measurements. Although almost no one knows his name in the common language (Professor Kypros Nicolaides), he is the one who led the group that revolutionized modern pregnancy care worldwide, barely 20 years ago. The research was carried out here in London, he is the biggest specialist in the subject (Hungarian specialists are also qualified by his institute), and their prices are cheaper than a private ultrasound here anywhere else. So when my doctor recommended the professor, I happily accepted.

The modern waiting room of Professor Nicolaides was full of couples. As I'm used to in England, the fathers go to all pregnancy tests and ultrasounds, almost without exception. We had to wait a long time, because doctors from all over the city refer outpatient cases of serious fetal abnormalities to this clinic, which are often taken in advance. We entertained our impatient daughter for an hour with the kindly prepared storybooks. I sighed in sync with the other mothers curled up and flipping through picture magazines a little suspiciously too quickly. My partner joked that this was the first "brand name" doctor he had ever de alt with.

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Before the blood test, I signed a form stating that I consented to the professor using the results of my examination in his research and sharing them with the world. By the time I was able to lie down in the ultrasound examination room, I could hardly hide my nervousness. All of a sudden, all my fears came to mind, I remembered the forum posts from moms who didn't find the heartbeat at the 12-week ultrasound (why do we always remember those and not the many thousands where everything was fine?) is it the last happy minute of my pregnancy? I pulled my pants down with trembling hands, the sonographer smeared warm gel on my stomach, started pushing her finger on it, and I didn't breathe once. Then I heard the sound of the heart and suddenly I was filled with great happiness. The examination was thorough and very long, and the sonographer commented throughout. He told me that it is not easy for him to measure because my uterus is in spasm at the moment, which is completely normal and can take up to 30 minutes. He told me exactly what he was looking at and measuring and always added that everything seemed to be fine. The nasal bone, the absence of which is an ominous sign, was clearly visible. When he directed the ultrasound at the backwater, I followed with fixed eyes and saw where the dark area he was measuring was. Even to a layman it was visibly small, a long, very narrow strip. after measurements, the professor came in, with whom the sonographer shared my data. The professor smiled and shook my hand, caressed our daughter's face and took the seat in front of the machine. He seemed to repeat and check some of the measurements and he also talked to us the whole time. Although he obviously shared a good result with the expectant mother for the ten thousandth time, I did not feel for a minute that I was routine. He helped me sit up and showed me an upward curve on his screen. "Based on his age, this would be his chance of a genetic disorder," he pointed out on the curve. "According to the ultrasound and the blood test, that's it," he pointed to the opposite side of the curve. "Exactly like a 15-year-old girl. Do you used to act like a 15-year-old girl?", she asked my partner with a chuckle. The guys smiled, I got dressed and stood up, still shaking a little. We received a paper full of numbers and tables, and a final word that no further tests were recommended based on my risk factor.

We walked out into the snowfall. I smiled all the way home and looked at my blurry photos every few minutes on the subway. I wasn't thinking "what if…", that thought only goes through the minds of people who have something bad happen to them. The privileged don't ask fate "Why ME?" I hope I never have to ask these questions in an examination. Just like I still don't know how I would decide if I hadn't won the genetic lottery. Which, by the way, is a wonderful feeling, even if 99.5 percent of your numbers are pulled.

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