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Tue 26
Down Syndrome: genetic test and diagnosis during pregnancy

Down Syndrome: genetic test and diagnosis during pregnancy

Lack of information and contact with other families create prejudice towards people with this condition, based on the idea that their lives are worth less

Milena Buarque

Mother of Laura, who at the time was three years old, physiotherapist Raquel Cimi found out in 2017 she would give birth to two other children. We were frightened. We wanted another baby, but never imagined we would have two.” The initial shock soon gave way to a feeling of apprehension. After she made a nuchal translucency scan, Raquel received the information that one of the babies had an alteration.

In a two-day period, with experts and in different cities, the mother made two other exams to receive the confirmation. “I got despaired, we weren’t sure of anything. I would only have any certainty if we did a genetic test. I feared a syndrome which was not compatible with life. I couldn’t accept the fact that one child was fine and the other wasn’t. I wanted them both to be doing well,” she says.

The physiotherapist anguish only turned into relief after birth. “We only discovered what was really going on when Luiza and Lívia were born. Luiza was the first one to be born. When I saw her, I realized immediately the characteristics of Down syndrome. At that moment, I felt like the world had been taken from my shoulders. To me, it was the greatest happiness in the world,” says Raquel, who lives in Sorriso, Mato Grosso.

Some exams could have confirmed the so-called trisomy of chromosome 21, caused by the presence of a third copy of this chromosome, and drove away the mother’s sole fear – that this genetic alteration would be incompatible with life. However, the option for amniocentesis, suggested by her doctor, could pierce the womb and lead to an abortion.

“He asked me whether I was told that the baby had [the syndrome] I would choose to interrupt the pregnancy. I said no, that regardless of what the baby had, I would never interrupt. The doctor then advised me not to do it. He said I would be putting both my daughters at risk. He was extremely human when he talked to me. My husband and I opted not to do the exam.

Raquel’s story goes in the opposite direction of what has been seen in the latest years, expressed by a drop in the birth of people with the syndrome in countries like Iceland and England. A report by CBS network in 2017 pointed out that in Iceland, since the introduction of exams that detect chromosomic alterations in the early 2000s, almost all women who receive the diagnosis opt for an abortion. In December that year, a statement by the country’s Ministry of Social Welfare considered the information “misleading and incorrect”.

Also according to CBS, it is estimated that 67 percent of women in the United States, for instance, abort when they receive the diagnosis (the statistic address the period between 1995 and 2011). In January last year, a similar phenomenon sparked a debate in England, when British newspaper The Guardian reported the arrival of a new exam, NIPT, in that country’s public health system. The so-called Non-Invasive Pre-Natal Test is still not offered by the Brazilian Unified Health System (SUS).


A big advancement in prenatal medicine, according to Fiocruz, the NIPT exam obtains a 99-percent accuracy rate when diagnosis some syndromes, among them Down. It is called “non-invasive” because it is done through a blood sample from the mother, whereas amniocentesis suggested by the doctor to Raquel, extracts through a needle the amniotic liquid which surrounds the baby.

For pediatrician Ana Claudia Brandão, responsible for the Down syndrome program at Albert Einstein Hospital, in São Paulo, the NIPT has been creating “turbulence” in some countries.

“The NIPT, which is a more recent exam, is a study of the fetal DNA. I think it is causing more turbulence in these countries, since it is a non-invasive exam, which may be done at a very precocious gestational age, around the tenth week. But it is not considered a diagnostic examination – but a triage test – despite having an extremely large sensitivity. When it determines the odds of a woman carrying a baby with some genetic alteration, it is usually accurate – it has an extremely small percentage of false-positive results. This is why this exam is getting more and more widespread, and it is still very expensive here,” she explains.

As well as Down syndrome, the exam, which may cost up to R$ 3 thousand, is capable of detecting with precision Turner, Klinefelter, Triple X, Edwards, and Patau syndromes. What has been causing this debate in other countries, however, is a singular scenario which congregates some elements: the realization of the exam, the opinion of the doctor and, of course, the possibility of having an abortion. In Ana Claudia’s view, however, lack of information for the population.

“I believe many abortions are made due to lack of information in these families on how fulfilling the life of a person with Down syndrome can be. I think that there is a lot of fantasy, a lot of things caused by the imagination, that having a child with Down syndrome would cause suffering for the parents, for the brothers, and even for the children themselves,” she says.

The pediatrician is not talking in her professional condition. Mother of 24-year-old Pedro, 22-year-old Georgia, and 14-year-old Rafael, Ana Claudia found herself giving birth to a child with Down syndrome at a moment in which pre-natal diagnoses were not as widespread. When Pedro, her first child, was born, the mother didn’t know any families who had had a baby with trisomy of the 21st. “We had no contact. We when we don’t have any contact, everything becomes mysterious. We looked it up, tried to obtain information about what we had to do, if there was anything different to do to look after this baby. And what we found out as time went on is that Pedro is very similar to the other two children.” Pedro went to culinary school and graduated in 2016. Out of the five university admission exams he took, he passed two.

What was really different was the health issue, because he was born with a heart condition, something that is very frequent among babies with Down syndrome, and to undergo a surgery at seven months of age. These health issues are what made him different. And, obviously, his development often happens at a stage slightly later regarding his chronological age. In all other aspects, everything was extremely similar to his brothers, and he had a school record very similar to them.”

Ana Claudia says that it is necessary to reflect a little about what one wants with these diagnosis exams. “I believe that what we have to present society and medical entities is what the goal of prenatal diagnoses is. Is the objective to provide parents with an opportunity for parents to find out the conditions of their babies, and prepare for it? Is it finding out if there is any health issue, to choose a maternity ward with more resources? Or is it to get in touch with an expert to help when the baby is born? All these things seem wonderful to me, because they will make this family’s life a lot easier during this planning process. But if these pre-natal exams are used to make judgments of who should be born and who shouldn’t, the thing becomes much more complex,” she points out.


In the point of view of Patricia Almeida, co-founder of Movimento Down, it is about an ethical, social, and economic issue. She explains that the lack of information and contact with other families create a prejudice regarding disabled people, based on the idea that their lives are worth less, a form of discrimination known as “ableism”.

“These exams will arrive, and they will become more and more advanced. Our campaign, let’s put it this way, is to give value to people with Down syndrome. They will have limitations, just as we don’t know who will end up having some form of limitation tomorrow or the day after. The problem lies in a society that doesn’t adapt itself to provide equal opportunities to everyone. If I am in a wheelchair and have access to everything, my disability becomes something less relevant. What we need is a change in values, we need to stop thinking that a person who doesn’t have a leg has the same value as you,” she says.

“What happens often is that the doctor who gives the results is also not able to say anything positive for these families. Of course, you will address issues which might cause problems, but obviously, you should discuss all possibilities regarding the life of this child,” says Ana Claudia, who has assisted five couples who had babies with the syndrome.

Nowadays, twins Lívia and Luiza are one year and five months old. When Raquel is not immersed in her daily routine, with three small girls at home, she speaks in groups dedicated to motherhood. As well as seeking information, Raquel is also sought by other mothers.

“I’ve even spoken to a mother who found out [she was pregnant with a baby with Down syndrome], saw some news reports talking about us, and called me up on Facebook. She lives in Portugal or in Italy, I’m not quite sure. Since the number of children with Down syndrome there is extremely low, she is very afraid of having the baby and not being able to afford to raise them or to make them accepted. I said that, regardless of where I was, I would never consider [an abortion],” she says.



Síndrome de Down: teste genético e o diagnóstico durante a gestação

Mãe de Laura, na época com quase três anos, a fisioterapeuta Raquel Cimi descobriu, em 2017, que seria mãe de mais duas outras crianças. “No primeiro ultrassom que fiz, com nove semanas, veio a notícia de que teríamos gêmeos. Levamos um susto. Queríamos mais um bebê, mas não imaginávamos que fossem dois”, conta. O susto inicial logo daria lugar a uma gestação de apreensão. Ao realizar o exame de translucência nucal, Raquel recebeu a informação de que havia alguma alteração em um dos bebês.