With advancements in technology and laboratory testing, the present methods can detect Down Syndrome in up to 90% of cases with a false positive rate of 5%, say experts on the World Down Syndrome Day that is observed on March 21 by the World Health Organisation (WHO).
Early visit to the doctor in pregnancy with timely ultrasound and blood tests can help identifying this condition in the womb itself. The further decision regarding whether to continue the pregnancy remains with the couple.
Down Syndrome is a genetic disorder wherein a child is born with an extra chromosome. Chromosomes are small parcels of genes; they govern how a baby’s body develops and functions during pregnancy and after birth. A baby is typically born with 46 chromosomes. Down Syndrome babies have an extra copy of one of these chromosomes. Trisomy is a medical term for having an extra copy of a chromosome. Trisomy 21 is another name for Down Syndrome. Older mothers are more likely to have a baby affected by Down Syndrome than younger mothers.
Down Syndrome typically results in varying degrees of motor and cognitive disability, as well as medical complications. The majority of children with Down Syndrome have some level of intellectual impairment, which is generally mild to moderate. People with modest intellectual disabilities can generally learn how to read, maintain a job, and use public transit on their own. They are more likely to suffer from certain health problems.
Approximately half of all individuals with Down Syndrome have issues with the shape or function of their heart. Others experience Apnea (obstructive sleep apnea), which is a treatable condition in which breathing repeatedly stops and restarts while sleeping.
Many also suffer from issues with vision and certain blood conditions, such as anemia (low iron). Although less common, they are more likely to develop leukemia, a type of blood cancer. This may also result in deterioration of memory and cognitive skills and may fall ill more frequently because of their weakened immune systems. They are more likely to be fairly overweight, have thyroid problems, intestine blockages and have skin issues.
There are different modalities available to detect Down Syndrome including blood tests early in pregnancy, ultrasound scans and a combination of both. Fetal genetic make-up can now be detected by testing the mother’s blood which is known as cell free DNA testing or NIPT.
Though faced with more challenges than the average individual, people with Down Syndrome can make valuable contributions in the workforce with the right resources, assistance and mentoring, as evidenced by observation in many countries.
Regrettably, prejudices, incorrect assumptions, hostility, and a lack of awareness prevent them from exercising their right to work. People with Down Syndrome have the same right as everyone else to work. This right is institutionalised in the UN Convention on the Rights of Persons with Disabilities Article 27, and Goal 8 of Sustainable Development encompasses decent work for all.
The decision to pursue or terminate the pregnancy is entirely up to the parents. The purpose of a Down Syndrome diagnosis is to prepare parents to accept such a child with open arms. We believe in acceptance, and strongly reckon in providing optimal Down Syndrome screening as well as empowering parents who choose to continue pregnancy with babies detected to have Down Syndrome.
(Dr Aparna Sharma, senior faculty, department of gynaecology and obstetrics, All India Institute of Medical Sciences, Delhi.)