What is Trisomy 21?

Trisomy 21 (Down Syndrome) – a chromosomal disorder

Known as Down syndrome or Trisomy 21, it results from an abnormality in the cell division process of the fertilized egg, causing the individual to develop an extra copy of chromosome 21. In other words, instead of two, there are three copies.

Consequently, it affects an individual’s development, leading to a range of physical and intellectual characteristics of varying severity.

Causes and Risk Factors

This chromosomal abnormality (aneuploidy) is caused by unknown factors, but there are some risk factors that may contribute to the development of the condition, such as:

Maternal age: Women over 35 are at a higher risk of conceiving a child with the condition.

Family history: If any family member has Down syndrome, the risk is higher compared to the general population.

Other genetic abnormalities: whether due to infertility or other genetic issues, there is a higher incidence.

The Germano de Sousa Center for Laboratory Medicine is a leading center in prenatal diagnosis and is certified by the Fetal Medicine Foundation (FMF). This approach allows for the identification of risk factors for trisomy 21 during the first trimester of pregnancy.

Signs and Symptoms

The main signs and symptoms affecting babies born with this condition can vary depending on the severity, ranging from minor deformities to changes in body structure. The most common characteristics include:

• An elongated face;
• Small, round eyes;
• Slightly flattened nose;
• Slow and delayed speech;
• Large, protruding tongue;
• Short stature;
• Small, malformed ears;
• Short, broad neck.

In addition, children with Down syndrome may also have health problems, such as congenital heart defects, hypothyroidism, and hearing impairments.

Early Diagnosis of Trisomy 21

Early diagnosis and detection are crucial for providing appropriate care and support. Prenatal screening options, such as Non-Invasive Prenatal Testing (NIPT) and maternal serum screening, can help identify signs of Trisomy 21 during pregnancy.

These tests analyze the mother’s blood for DNA markers that indicate an increased risk of chromosomal abnormalities. If screening indicates an increased risk, diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis can be performed to collect cells from the baby and confirm the diagnosis.

It is important to note that prenatal tests cannot definitively diagnose trisomy 21, but they can identify individuals at higher risk who may choose to undergo additional diagnostic testing.

Thus, early detection allows families to prepare emotionally and learn about the syndrome, while also enabling healthcare professionals to provide appropriate medical care and intervention strategies from birth.

Health Care and Treatment Options

Regular consultations with physicians specializing in trisomy 21 can aid in the timely detection and management of associated medical conditions, such as heart defects, hearing loss, vision problems, and thyroid disorders.

In addition, educational programs tailored to the abilities and needs of children with Down syndrome enable them to reach their full potential.

As for treatment options, these focus on early intervention therapies, including physical therapy, speech therapy, and occupational therapy. These interventions help address developmental delays, improve motor and communication skills, and promote independence.

Life with Down syndrome

Describing the syndrome is a complex task, as experiences and abilities vary depending on the individual and the severity of the condition. Although there may be challenges associated with the condition, people can lead fulfilling lives and make meaningful contributions to their communities.

Families play a crucial role in children’s cognitive development and social integration by maintaining open communication and providing support so that they can explore educational opportunities and, later, career opportunities in adulthood.

Fortunately, in Portugal and abroad, there are several associations that support children with Trisomy 21, such as Pais 21, APPT21, and APATRIS21. These organizations provide valuable resources, guidance, and a sense of community for families.

Germano de Sousa Center for Laboratory Medicine

The laboratories at the Germano de Sousa Center for Laboratory Medicine, a national leader in the fields of Clinical Pathology and Clinical Analysis, are equipped to provide all the necessary support during this crucial stage. In fact, early diagnosis is essential for the success of any necessary treatment.

Although the diagnosis of this syndrome may be distressing at first, as families gain a better understanding of the condition, they can begin to seek the appropriate treatment and necessary support so that their child with the condition can lead a long and happy life.

Learn how to assess the risk of Trisomy 21 through prenatal diagnosis.