World Down Syndrome Day – 21 March, 2019
Doha, 20 March, 2019: Ms. Mariam Al Mulla, a Genetic Counsellor at Hamad Medical Corporation (HMC), says a woman's risk of conceiving a child with Down syndrome, a genetic condition characterized by abnormal cell division resulting in an extra full or partial copy of chromosome 21, increases after 35 years of age.
“Advanced maternal age is a well-recognized factor that increases a woman’s risk of having a child with chromosomal abnormalities, such as Trisomy 21. Trisomy 21, commonly known as Down syndrome, occurs due to the presence of an extra copy of chromosome 21,” explains Ms. Al Mulla.
Trisomy 21 is the most common form of Down syndrome and is the result of an individual having 47 chromosomes in each cell instead of 46. Ms. Al Mulla says studies suggest older females might have lower amounts of certain proteins in their eggs, making chromosomal abnormalities more likely to occur.
“People normally have 46 chromosomes, half of which are inherited from the mother through her egg cell, and the other half is passed through the sperm of the father. All pregnant women have some risk of having a child with Trisomy 21 or Down syndrome. However, studies show that the risk of having a child with Trisomy 21 increases after the age of 35 years,” says Ms. Al Mulla.
She says while not all people with Down syndrome share the same physical characteristics, there are features that tend to occur in the genetic disorder. She says some of the more common physical characteristics include a flattened face, especially the bridge of the nose, almond-shaped eyes that slant upwards, a short neck, small ears, a tongue that tends to stick out of the mouth, tiny white spots on the iris (colored part) of the eye, small hands and feet, a single line across the palm of the hand (palmar crease), small pinky fingers that sometimes curve toward the thumb, poor muscle tone or loose joints, and short stature.
Dr. Sawsan Al Obaidly, Consultant Maternal-Fetal Medicine at the Obstetrics and Gynecology Department, Women’s Wellness and Research Center, said some women opt to undergo antenatal testing for Down syndrome and other genetic conditions.
“A screening test for Down syndrome is a test that can tell if a baby is likely to have the condition and if a screening test shows that there is a high chance that a baby has Down syndrome, a woman will be offered further invasive testing to confirm the diagnosis,” says Dr. Al Obaidly.
Dr. Nazim Abdel Aati, Acting Director of the Child Development Center at Rumailah Hospital says in the case of a positive diagnosis, early intervention and consistent medical care are the keys to maintaining a high quality of life for children with Down syndrome.
“In Qatar, over 120 cases of Down syndrome were diagnosed between 2016 and 2018. Currently, HMC’s Child Development Center offers diagnostic and specialized care to approximately five children with Down syndrome each month. Through our early intervention program, the Center is helping children with Down syndrome, from birth to three years, reach their full potential,” said Dr. Abdel Aati.
“We provide these children with a comprehensive multidisciplinary therapeutic service including physiotherapy, occupational therapy, and speech and language therapy. The program is also being supported by other services including special education, nursing, and clinical psychology services, according to the child’s needs,” added Dr. Abdel Aati.
In recognition of World Down Syndrome Day, observed globally on 21 March, HMC is organizing a family day at Al Bidda Park for patients and their families.