Understanding Down Syndrome: Types, Signs in Infants & Pregnancy Screening

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With support and proper care, families can help children with Down syndrome lead fulfilling and healthy lives. Let’s discuss what you need to know about this condition.

What is Down Syndrome?

Down syndrome is a chromosomal disorder that results in a range of mental and physical symptoms, which can vary in severity. Often referred to as trisomy 21, individuals with Down syndrome have three copies of the 21st chromosome instead of the usual two. According to the CDC, around 6,000 babies in the U.S., or about one in 700, are born with Down syndrome each year. While the medical needs of these children can differ, most can enjoy long, healthy lives.

Types of Down Syndrome

Down syndrome can arise when there is an error in cell division, leading to an extra chromosome. The three main types include:

  1. Trisomy 21: The most common form, present in about 95% of cases.
  2. Translocation Down Syndrome: Occurs when a part of chromosome 21 attaches to another chromosome.
  3. Mosaic Down Syndrome: A rare form where some cells have the typical number of chromosomes, while others have the extra chromosome 21.

Signs of Down Syndrome in Infants

Infants with Down syndrome may exhibit various signs, including:

  • Hypotonia (poor muscle tone)
  • Distinct facial features like a flat nasal bridge and slanted eyes
  • A single transverse palmar crease
  • Protruding tongue

Early recognition of these signs can be crucial for intervention and support.

Screening for Down Syndrome During Pregnancy

Expectant parents can opt for several screening tests to evaluate the likelihood of Down syndrome in their baby. These tests can be non-invasive, such as blood tests and ultrasounds, or invasive procedures like amniocentesis or chorionic villus sampling (CVS) if further confirmation is needed.

Latest Treatments for Down Syndrome

While there’s no cure for Down syndrome, numerous therapies can support development, such as speech, occupational, and physical therapy. Early intervention can significantly enhance the quality of life for children with Down syndrome.

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Summary

Down syndrome is a chromosomal condition that affects many infants each year, with varying degrees of impact on health and development. Understanding the types, signs, and available support can empower families to provide the best care for their children.