1. WHAT IS DOWN SYNDROME?
DOWN SYNDROME is a chromosomal disorder where there are three chromosomes instead of two chromosomes at number 21. Most people have 23 pairs of chromosomes in each of their cells. In people with Down syndrome, these pairs don’t divide correctly and this causes the baby’s cells to have an extra copy of chromosome number 21.
2. WHAT ARE THE SYMPTOMS OF A DOWN SYNDROME BABY?
These babies are also called Mongol children due to resemblance in their facial appearance which is flat profile, short nose, downward slanting eyes. They have varying degrees of intellectual disability, learning problems, speech problems, hypothyroidism and heart defects.
3. HOW COMMON IS DOWN SYNDROME?
It’s found in one in every 600-700 babies.
4. CAN IT BE CURED?
Extra chromosome cannot be removed from the cell, so cannot be as such cured. However, support and treatment for accompanying problems like learning disabilities, language, etc can be given.
5. CAN IT BE DIAGNOSED BEFORE BIRTH?
Yes, it can be diagnosed before birth.
All pregnant women are now routinely offered Down syndrome screening with ultrasound and blood tests. These are screening tests which means that the results are not 100%. However, those who are reported as HIGH risk on screening test would be further offered diagnostic tests which would ascertain or rule out Down syndrome in the baby inside the womb.
Ultrasound scans like NT scan is done between 11 to 13+6 weeks wherein markers like nasal bone, nuchal translucency, heart rate, flow through right side of heart and liver (DV) are looked at and the risk of having an affected baby is calculated. Another ultrasound done in second trimester of pregnancy also looks for features detectable at that gestation.
Blood tests like Dual marker or Quadruple test or NIPT can also be used to screen. The efficacy of each of these tests is different.
Yes, all women should undergo screening irrespective of their age and family history. Though the risk of having a Down baby increases with increasing maternal age, young mothers are not devoid of this risk.
The occurrence of an extra chromosome is purely by chance at the stage when embryo is formed and is not related to what you drink, eat or your sleep patterns etc.
Discussion with fetal medicine person/geneticist to further carry out diagnostic tests through chorionic villus sampling or amniocentesis is recommended.
It is recommended to see a geneticist and get the chromosomal workup done to know the chromosomal pattern. The check-up of baby’s heart, eyesight, hearing and thyroid function are recommended.