World Down Syndrome Day is observed annually on March 21. The day is marked to raise awareness about the chromosomal disorder. As per United Nations about one in a thousand to one in 1,100 children are born with Down syndrome. One of the primary reasons debated over the years is that the chances of having a child with Down syndrome when a woman conceives in her late 30s or early 40s.
Clinically, every pregnant woman is at risk of having a fetus with a chromosomal abnormality and the commonest is Down syndrome. Dr Mitesh Shetty, a Medical Geneticist from Manipal Hospitals says that ageing mothers have a proven risk factor for Down syndrome. "Over 80% of children with Down syndrome are born to mothers under the age of 35 yrs," says the doctor.
Down syndrome is a condition in which a baby is born with extra chromosome. Typically, each cell in the human body has 23 pairs of chromosomes (46 total chromosomes). 23 from the mother and the other half from the father. Dr Luna Pant, a gynecologist at Max Healthcare in Dehradun explains that Down syndrome is a genetic condition where a person is born with an extra copy of chromosome 21. "This means that they have a total of 47 chromosomes instead of 46. This can affect how their brain and body develop," says the doctor.
Early detection and care
While doctors have been reiterating the importance of timely pregnancy for safe childbirth and lesser post-pregnancy complications, many still disagree with the fact. However, with medical advancement one may detect Down syndrome complications in time if one may choose late pregnancy.
Blood screening tests like Double/Quadruple and Non-invasive pregnancy tests (NIPT) along with Nuchal and Anomaly scans can give the probability of Down syndrome. But a confirmatory test would be invasive prenatal testing. "It can be diagnosed early in pregnancy in the first trimester by a combined test. An ultrasound can detect fluid at the back of a foetus’ neck, which indicates Down syndrome," states Dr Pant. She later points out that it can be combined with a dual or quadruple marker tests to confirm the case.
Dr Shrishailesh Mantur, a Neonatologist and Paediatrician at Apollo Cradle and Children’s Hospital notes that the option of abortion (within legal termination period) is advised to the mother based on the results of prenatal testing.
Children with Down syndrome benefit from early intervention services like physical, occupational, and speech therapies as well as aqua therapy and yoga.
A child with special needs
Additionally, children born with Down syndrome have developmental delay and mental retardation. These children are also prone to have increased risk of congenital heart disease and leukemia. "Mothers should consume adequate folate around the time of conception. Folate is an important vitamin found in green vegetables, fruits, beans, and meat that contributes to cell division and growth and is therefore of particular importance during infancy and pregnancy," suggests Dr Pant.
Raising a child is a tedious process and immense sacrifices are required. And raising a child with Down syndrome takes all the parenting challenges a notch higher. The doctors recommend frequent medical check-ups till the child turns five. Timely vaccination after birth to prevent fever, infections, and other health damages is advised without a comprise. A healthy lifestyle and positive attitude can help the child grow in positive atmosphere leading to an improvement in the child's overall personality.
"Baby first; keep aside your worries," says Dr Rohit Srivastava, a Paediatrician with Max Healthcare. "There is much beauty in Down syndrome and parents need not stress out about caring for their special kid. Your baby will still achieve typical milestones. There is always support and help available," says Dr Srivastava. But can bad lifestyle of a mother cause Down syndrome in newborns? "There is no link between drinking or smoking and an increased risk of Down syndrome in children," clarifies Dr Shetty.
