21st March is celebrated as World Down Syndrome Day. Down’s syndrome is a genetic chromosome problem when one is born with an extra chromosome. Chromosomes carry all the genetic information from the mother in her egg and from the father in his sperm to the new baby. However, due to some error in natural mechanisms, a baby may have an extra copy of chromosome 21 and is then said to be having Down’s syndrome.
These babies may be recognized by their typical features which include an oval-shaped face, eyes that slant upwards and have an extra skin fold on the upper eyelid (epicanthal fold) , small nose, smallmouth, and a tongue that often protrudes short neck, and low set ears, hyper flexibility of joints besides other features also. Genetic testing confirms the condition. problems and immunologic disorders. They have delayed developmental milestones and will require support from society to live their lives.
Down’s syndrome usually does not run in families except in very few cases. The chance of recurrence is very low.
Anyone can have a baby with Down’s syndrome although your chance of having
All people with Down’s syndrome have some degree of learning disability which has a wide range. They are also at increased risk of having various other medical problems like heart defects, thyroid, and other endocrine issues, blood disorders, behavioral disorders, autism, bowel prng a baby with Down’s syndrome increases as you get older.
There are different types of tests available to screen your pregnancy for the risk of Down’s syndrome as well as tests that definitely confirm it(amniocentesis or chorionic villous biopsy ). You need to consult your doctor because these tests are done at specific points in the course of pregnancy. The tests would be in the form of blood tests ( Dual test, Quadruple test, NIPT ) combined with ultrasound by a fetal medicine expert. Ultrasound can pick up certain clues which point towards Down’s syndrome.
Ultimately the choice to undergo the test is yours. The purpose of the test is to be prepared in all aspects, for the care of a child with Down’s syndrome. In case, you and your family are not prepared to continue the pregnancy, the pregnancy can be terminated as per the local policy.