In Brazil, the population with Down Syndrome is equivalent to 350 thousand people and, every year, 8 thousand new cases appear. Of this total, approximately 45% to 50% are born with heart disease, that is, heart disease. This is what warns Zan Mustacchi, geneticist and pediatrician at Hospital Darcy Vargas, in “CNN Vital Signs – Dr. Kalil Interview” shown this Saturday (7).
Mustacchi and pediatric cardiologist Flávia Navarro, from Santa Casa de São Paulo, are the guests of the Dr. Roberto Kalil to talk about, or “trisomy 21” (T21). The disease is caused by a genetic alteration that leads to the formation of an extra chromosome 21, resulting in intellectual disability and physical characteristics such as short stature, flat nasal root, small hands and short fingers, among others.
According to Navarro, it is important that the detection of people with the syndrome is carried out during the fetal period. “These children must be approached early, and their diagnosis should preferably be made in the fetal period. Ideally, they should be operated on around 4 to 6 months of age so that they do not develop into a complex condition called pulmonary hypertension”, he states.
“We have a relatively recent technical-scientific fact, which we were able to do by collecting the mother’s blood, as if we were collecting a blood count, the Nipt, a non-invasive diagnostic test. We achieve a safety margin of approximately 98%”, explains Mustacchi.
The geneticist states that this test, when associated with ultrasound and fetal echocardiogram data, is effective. Recently, Nipt was included as mandatory in prenatal care, but it is not yet accessible to all pregnant women.
“It’s a simple test, but access is difficult,” says Navarro. “Thinking about the general population, we usually have difficulties with the device, technical difficulties…”, says the cardiologist, also referring to the lack of professional training to carry out the exam.
Due to this and other factors, intrauterine diagnosis is not always made, as would be ideal. In these cases, Navarro also advocates greater preparation of the medical team to deal with the moment of talking to parents about the matter.
“It is very common to break the news that the child has T21 at birth, as soon as the baby is delivered. So, the mother is still there, undergoing surgery, in the middle of the cesarean section… Having that sensitivity to talk to the mother, waiting for the father, the partner, someone to be there. There is no urgency to break the news,” says Navarro.
What are the risk factors associated with Down syndrome?
During the program, experts comment on the risk factors for trisomy 21. The main and best known of them is advanced maternal age, but this is not the only one.
“If I have someone in the family with T21, it is an increased risk factor. If I have someone in the family with Alzheimer’s, it is an increased risk factor. Hypothyroidism, specifically autoimmune, in a form that we call Hashimoto’s, also has an increased risk. The bad thing about us saying ‘increased’ is that it sounds like 50%, 20%, 30%. No, this ‘increase’ is 1% more, 0.5% more”, explains Mustacchi.
According to the geneticist, the signs are always related to the ligaments, musculoskeletal system and neuromotor development. “So, does the baby firm its neck? Of course sign. But instead of firming up after two months, it happens after two and a half to three months. Which doesn’t make much difference.”
The expert, however, makes a point of stating that the condition of the T21 is not an impediment to anything, as long as people have opportunities and respect.
“Unfortunately, the population is used to hearing that there are degrees between people. We don’t have varieties of any grade. Here in the country, we have three words that support the issue of T21 today: opportunity, respect and security are the triad of support for any individual trying to live adequately”, he states.
Social networks increase visibility on inclusion and representation
Navarro adds that the use of social networks has boosted the representation of people with Down syndrome in different areas.
“Today, with the advent of social networks, it is digital influencers who show that they are going to college, that they are going to work, that they are going to the club. Because, when a baby is born, no matter how much we talk to this family, explaining what it is, there is nothing better than a mother, a family looking and seeing João going to college, Maju parading, the boys working … This is fantastic”, he says, referring to models Maju de Araújo and João Vitor Paiva, who is also the first T21 youth advisor for the United Nations Children’s Fund (Unicef).
“Nothing about us, without us” is their motto, according to Mustacchi. For the geneticist, T21 carriers assuming the narrative of their own history is the best change that has occurred in recent years.
“CNN Sinais Vitais – Dr. Kalil Interview” will air on Saturday, December 7th, at 7:30 pm, on CNN Brasil.
