Can a person actually think harder

Chromosome damage: Life with trisomy is harder and more beautiful than many think

content

Read on one side

Mara lived with her parents and older sister for five weeks and then died peacefully at home. Zeno has a name in his family's memory. But he was never born. His mother's pregnancy ended in week 13. "Today I know that it was not his job to live with us," writes his mother in the forum of the association for parents of chromosomally damaged children Leona .

For Zeno, the tests before birth showed a trisomy 13, for Mara a trisomy 18. This means that in these children there is one chromosome three times in each cell in the body. Normal would be twice.

Such a chromosome has too much, sometimes severe, effects on a person's health. The most common is trisomy 21, also known as Down syndrome. People with three copies of chromosome 21 have more surgery for heart defects. Since their muscles are genetically less tensioned, they learn to walk later and often have movement disorders. They suffer from ametropia more often than other people. The most serious difference, however, is that people with Down syndrome develop cognitively more slowly. However, this disability can be very different.

On average, people with trisomy 21 do not live as old as people without disabilities. Nevertheless, thanks to good medical and social care, many are now 50 or 60 years old, and some are even older.

Children with trisomy 13 or 18 have little chance of survival

The situation is completely different with the much rarer trisomies 13 and 18: Many of the newborns die immediately after birth as a result of severe malformations or only live a few weeks or months. Very few reach their first birthday. Whatever parents-to-be decide after the shock of the diagnosis - whether to terminate the pregnancy or for the natural course of events: they have to deal with the death of the child. "Zeno would have died in any case. We only decided the timing," writes his mother.

Newsletter

SIGN UP HERE FOR FREE

Be there live online when our podcasts are created and meet your favorite hosts at the first ZEIT ONLINE podcast festival on Sunday, June 20, 2021.

With your registration you take note of the data protection regulations.

Many Thanks! We have sent you an email.

Check your mailbox and confirm the newsletter subscription.

A study that is now in the August issue of the pediatric journal Pediatrics shows that doctors often convey this truth with drastic words. Doctors working with Annie Janvier from the University of Montreal interviewed 332 parents who had had a child with trisomy 13 or 18. 87 percent of those reported that a medical professional told them the chromosomal disorder was "incompatible with life."

Trisomy diagnosis

Trisomy on ultrasound

Trisomies often fall first in the Ultrasound examination on: The neck of the unborn child shows a noticeably wide area of ​​skin that is filled with fluid, the so-called thickened crease in the neck. It is characteristic not only of the most common trisomy 21, but also of trisomies 13 and 18 - but by itself not proof of their presence.

Amniotic fluid examination

At the request of the parents, this suspected diagnosis can be based on trisomy 21, 18 or 13, but also on the even rarer 9 or 8, by a Amniocentesis (amniocentesis) or an investigation of Splitting the mother cake (chorionic villus sampling) be hardened.

For the amniotic fluid examination, thin needles are inserted over the abdominal wall and the amniotic sac under ultrasound control in order to remove ten to 20 milliliters of amniotic fluid. The child cells it contains are grown and reproduced in the laboratory and genetically examined. The examination result is very precise that Miscarriage rate by exam however, it is up to one percent. The risks and the further course of action must be discussed in the informative discussion.

The new blood test

The much discussed blood test by the Constance company Life Codexx has also been available in 22 German prenatal centers since August 2012. Tiny ones can be made from some of the pregnant woman's blood DNA fragments from the child's genome be won. Currently, the test is only after Trisomy 21 (Down syndrome) wanted, but other applications are possible and planned. The test does not involve any risks for the unborn child, but it is not paid for by the health insurers and costs around 1,300 euros.

Even if that sounds crass and very harsh: It is true. What is neglected in such statements, however, is that in some cases there is a short life span that parents and child spend together. And according to the study author Janvier, this is usually perceived as positive. "Despite the fact that these children often live less than a year and are severely disabled, families perceive them to be happy children. They find happiness in their relationships with their children. They enrich the family and the couple, the lives of the children has a purpose. "

This happiness in life of those affected stands in contrast to the usual information provided by many doctors during pregnancy: 57 percent of the study participants reported that they had been warned that the child would lead a painful life. Half of them remembers that the doctors spoke of a "vegetating". A quarter of respondents had even been warned that the disabled baby would "ruin" their families. "Our study shows that doctors and parents often have very different views of what constitutes quality of life," she reports to neonatal specialist and medical ethicist Janvier. As the mother of a child who died of trisomy 13, her co-author Barbara Farlow speaks with the authority of her own experience.