World Down Syndrome Day: Empowering mother and father

With developments in expertise and laboratory testing, the current strategies can detect Down Syndrome in as much as 90% of instances with a false optimistic fee of 5%, say specialists on the World Down Syndrome Day that’s noticed on March 21 by the World Well being Organisation (WHO).

Early go to to the physician in being pregnant with well timed ultrasound and blood exams may also help figuring out this situation within the womb itself. The additional resolution relating to whether or not to proceed the being pregnant stays with the couple.

Down Syndrome is a genetic dysfunction whereby a baby is born with an additional chromosome. Chromosomes are small parcels of genes; they govern how a child’s physique develops and features throughout being pregnant and after beginning. A child is often born with 46 chromosomes. Down Syndrome infants have an additional copy of one among these chromosomes. Trisomy is a medical time period for having an additional copy of a chromosome. Trisomy 21 is one other title for Down Syndrome. Older moms usually tend to have a child affected by Down Syndrome than youthful moms.

Down Syndrome usually leads to various levels of motor and cognitive incapacity, in addition to medical issues. Nearly all of kids with Down Syndrome have some stage of mental impairment, which is usually gentle to reasonable. Folks with modest mental disabilities can usually learn to learn, preserve a job, and use public transit on their very own. They’re extra prone to undergo from sure well being issues.

Roughly half of all people with Down Syndrome have points with the form or perform of their coronary heart. Others expertise Apnea (obstructive sleep apnea), which is a treatable situation by which respiration repeatedly stops and restarts whereas sleeping.

Many additionally undergo from points with imaginative and prescient and sure blood circumstances, reminiscent of anemia (low iron). Though much less frequent, they’re extra prone to develop leukemia, a sort of blood most cancers. This will additionally end in deterioration of reminiscence and cognitive expertise and should fall sick extra often due to their weakened immune methods. They’re extra prone to be pretty obese, have thyroid issues, gut blockages and have pores and skin points.

There are completely different modalities obtainable to detect Down Syndrome together with blood exams early in being pregnant, ultrasound scans and a mixture of each. Fetal genetic make-up can now be detected by testing the mom’s blood which is called cell free DNA testing or NIPT.

Although confronted with extra challenges than the typical particular person, individuals with Down Syndrome could make helpful contributions within the workforce with the correct sources, help and mentoring, as evidenced by commentary in lots of international locations.

Regrettably, prejudices, incorrect assumptions, hostility, and a lack of understanding forestall them from exercising their proper to work. Folks with Down Syndrome have the identical proper as everybody else to work. This proper is institutionalised within the UN Conference on the Rights of Individuals with Disabilities Article 27, and Aim 8 of Sustainable Improvement encompasses first rate work for all.

The choice to pursue or terminate the being pregnant is solely as much as the mother and father. The aim of a Down Syndrome prognosis is to organize mother and father to simply accept such a baby with open arms. We imagine in acceptance, and strongly reckon in offering optimum Down Syndrome screening in addition to empowering mother and father who select to proceed being pregnant with infants detected to have Down Syndrome.

(Dr Aparna Sharma, senior college, division of gynaecology and obstetrics, All India Institute of Medical Sciences, Delhi.)