Down syndrome, also referred to as trisomy 21, cannot be prevented in babies, but it can be detected before birth. One in every 733 babies has a chance of being born with Down syndrome. Parents of babies with Down syndrome face medical and developmental challenges, but they also experience joy and love that exceed any challenge presented by having a child affected by the condition.
During conception, a baby receives 23 chromosomes from the mother and 23 chromosomes from the father for a total of 46 chromosomes. A baby with Down syndrome has received an extra number 21 chromosome from either parent. Instead of 46 chromosomes, a baby with Down syndrome has a total of 47 chromosomes. The extra chromosome creates additional genetic information that complicates physical and cognitive development.
Babies born with Down syndrome usually have normal birth weights but do not grow as fast as their peers and tend to be smaller in comparison. They also develop slower, achieving standard milestones such as sitting up, crawling, and walking later than normal. Signs of Down syndrome in babies may also include feeding problems such as an inability to latch on and suck and increased digestive problems such as constipation. Low muscle tone, also known as hypotonia, is another common sign of Down syndrome in babies and makes the baby seem limp or floppy. Additional signs that a baby may have Down syndrome include eye and ear problems, dental problems, neck issues, thyroid irregularities, heart defects, and conditions such as leukaemia and diabetes. Physical signs of Down syndrome in babies may include flattened facial features, eyes that appear to have an upward slant with skin folds in the inner corners, a small nose, a large space between the first and second toes, and a single deep crease along the palms of the hands.
Down syndrome is a lifelong condition that is not curable. Early intervention is the best treatment for babies who are diagnosed with Down syndrome to ensure they are healthy and live full lives, reaching their full potential. Early intervention also ensures babies with Down syndrome receive thorough medical care to treat all complications associated with the condition.
Down syndrome affects babies of all ethnic backgrounds. Women of all ethnic backgrounds who give birth after age 35 have a significantly higher chance of delivering babies with Down syndrome.
Parents are often shocked to notice that despite early screening during pregnancy, their baby is showing possible signs of Down syndrome, yet discover they do not have the condition. Likewise, babies who have Down syndrome may not have clear, distinguishable signs of the condition and need to undergo karyotype (genetic) testing to determine positive or negative results.