"Almost aviation due to a medical certificate that was to be reluctant"


Claire Bell and her daughter, Fintry

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Claire Bell concluded her experience with her BBC in regional exams.

Claire Bell can count calmly, but she had to spend weeks for a while and much more of her research before she reached.

For 5 years, her husband received care for two types of cancer.

When it was finally, her couple decided to try to take a baby through in vitro (IVF) boughs, a & # 39; Sperm uses her husband to get frozen and stored before he gets cemotherapy.

At the first attempt, at age 41, she grew pregnant and she was very lucky.

"It was a wonderful love," said Claire to the reporter Charlotte Hayward. "The first of our minds has worked," he said.

The two decided that they wanted to find out if the child had a Down syndrome and paid them privately for a blood test called NIPT in English, a non-invasive regional survey.

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The test analyzes the DNA of small fragments of the phlacent that is; circulated in the mother's blood.

"My husband and I knew we can not care for a child with Down syndrome," said Claire, South African journalist and a research that was going to be. live in Scotland at that time.

"After dealing with five years of cancer cure, we felt that our emotional strength was not"to address such a situation.

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NIPT test costs are up to US $ 650.

The clinic told Claire that she would get an email if everything was correct, but they would call if there was anything to talk.

Just a week later, while Claire and her husband had been in France, the phone rang. Claire was in the shower at that time, and she quickly answered her.

Bad news

"I ran to the phone … and as long as I was there, I was shooting with a guy, the doctor told me there were opportunities for the baby I have Turner syndrome"

Turner's syndrome is a chromosomal disease that affects only girls and who are infected. including short numbers and fertility problems.

But the information that Claire got from the clinic was painted very sad sight of people's lives with Turner syndrome.

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Turner syndrome with pausitic chromosomes, a disease that affects girls only.

"I remember to think that this is a science, that's true, I can not stop crying, I can not. Over 200 meters to walk, I felt unhappy. "

He met him that he would do something; It would be better for her daughter who would disturb her; boy.

But later that day, Claire spoke to her friend who encouraged her to find out more about the test. And when he did, he found that The product can not be so attractive as it seemed.

The NIPT test is available for any woman or couple who wants to pay the cost up to US $ 650.

It is used especially to find Syndrome Down and two unusual chromosomal alternatives, Edwards syndrome and Patau syndrome.

Medical professionals agree, when used properly, that it is very reliable as a test for these conditions.

But when we try to find other conditions, weigh less, the effectiveness of the test is not strictly proven in clinical situations.

While I was there, a & # 39; shooting with a guy, my doctor told me there were opportunities for my dad to have Turner syndrome. "

Claire Bell

An article in the medical journal Ultrasound in Obstetrics and Gynaeology He argues that when used to find those conditions, and including Turner syndrome (when the girl has only one copy of the chromosome X) or Klinefelter syndrome (when there are two copy the child of X chriosome and one chromosome Y) high level of growth", low detection level and high number of false verbs.

One of the authors of that report, saying that Kypros Nicolaides, a professor of a fetal cure at King's College Hospital, says that women who got NIPT into a private clinic are often Turning to a health system to & # 39; public for help.

Bad checks

"The NIPT test can investigate a variety of diseases, but we do not know how efficient and valuable the detection is," said Nicolaides.

"Many women who get those exams, who come to work, are very worried and give up the attack test they want to avoid, and It is the result that the NIPT test is wrong"he says.

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Claire Bell made a broad inquiry to experience the effectiveness of the test.

The anesthetic test that Nicolaides describes a placental biopsy or amniocentesis, that is, analyzes an amniotic fluid climb. There is a small risk between the two tests for transit.

Claire Bell did not go through this type of attack test, because she had read more about the NIPT test as a means of finding Turner syndrome, more incredible it came to be.

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Read on the internet about women's infants that were detected by Turner syndrome in the wrong way.

And he read about a pregnant woman told her that the test was so unreliable that more or less the same as giving a coin.

Then, he reads that the positive positive (PPV) value of the test for Turner syndrome, a proportion of positive and negative results that can be positive and positive, at the moment. Ultimately only 40% for a 41 year old woman.

I remember that I thought this was a science, it was a fact. I can not stop crying, I can not; I can walk over 200 meters. I was feeling unhappy. "

Claire Bell

He asked the doctor who had told him about his product on his / her; phone and asked if he was right.

"Yes, but we do not know"he replied.

Although he did not know what he was best, he did not know; Claire named her father's sister for sights.

He described some of the symptoms that girls with Turner can develop syndrome, and include that fact they have no intellectual disabilities, but may have problems with spatial reasoning and mathematics.

"You can not bann a child because it may be low, you would have a smooth fund or problems with maths," said his mother-in-law. "And besides, we are from Yorkshire, we are strong and you know it. Do not let me fill myself with doubts"

Clinical chemistry

Claire then decided to handle her & # 39; case as one of her magazines and gave her name to the laboratory that analyzed her blood.

He asked how often they did progress to find out if a baby was shown to have a high is equivalent to being born by Turner syndrome They came to an end.

They replied that they never did it.

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Angela Catlin

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Claire recognizes: "I almost do not play as a result of a medical test that was to be unreliable."

The scientist from the lab she spoke to emphasized that Claire did not think he had been trying to get her. pre-examined consultation, and so agreed to call her clinic to ask.

His doctor replied that he would be donated in the United States four hours prior to pre-trial consultation, but in the United Kingdom there was not enough genetic experts who could have that speech.

The Claire clinic is in the presence of patients receiving advice and advice on false positive statistics.

He says that he is "informing patients of all test results in a safe, sensitive way and giving them the support they need" and although they do not he does not given genetic information It is special, which supports patients with a pediatric consultant in subsequent handling.

In his statement, the clinic also says that he continues to be "working politely, professionally and as well as the patient."

"We will continue to work according to professional standards, and at the same time We give people and elected women the opportunity"he says.

Complementary use

Claire continued to research her and her; reading articles in medical magazines.

It was surprised to find out that the only company that created the test was He suggested that it would not be appropriate for diseases such as Turner syndrome.

Instead, he said, it was best to use it as a response, in cases where there is a family history in unusual chromosomal similar to or when there is a ultrasound caused the reason that such a disagreement might appear to be present.

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Turner has no symptoms at Turner's syndrome.

"I think I can do this disturbance, that is …", he says, a & # 39; stop to find the right words. "It's so important for women to know that there is enough proof of this test"

In June 2018, Claire's daughter, Fintry, was born, and the symptoms of Turner syndrome were unlikely to occur. It's small, but there are low humans in the family.

Claire will have a Fintry blood test when he turned a year to find out if the disease is. But not before, clarify.

"I wanted her to be a full one in my mind, so I can know her completely before she would cause her," she says.

"She's healthy, she's beautiful and she's always getting ready."

Robert Cuffe, head of statistics at BBC News, said: "It is best to ask the doctor before making important decisions and if you have asked you to ask Dr. Google, show how common the disease is before you make any decisions. "

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