On the occasion of World Down Syndrome Day, which falls on March 21st of each year, Dr. Eman Rashid Deemas, Head of Maternal and Fetal Medicine Department at the Family Health Promotion Centre in Sharjah, affiliated with Emirates Health Services (EHS), explained that Down syndrome is a genetic disorder that results in an increase in the number of chromosomes from 46 to 47, where the genetic defect varies in severity from one child to another. She pointed out that its cause is attributed to abnormal cell division in chromosome 21, resulting in abnormal cell division and the presence of an extra complete or partial copy of chromosome 21, with the additional genetic material being the cause of the distinctive features and growth-related problems associated with Down syndrome.
Regarding the causes of the disease, Dr. Eman highlighted several possible reasons, including advanced maternal age, as the risk of a woman carrying a child with Down syndrome increases after the age of 35. However, younger women are also at risk of having a child with Down syndrome, albeit to a lesser extent. She also explained that one parent carrying the genetic mutation for Down syndrome may transmit the disease to the child, and the birth of one child with Down syndrome increases the chances of having another child with the disease.
Deemas emphasized, on the occasion of World Down Syndrome Day celebrated by the United Nations on March 21st to highlight the unique duplication (trisomy) of chromosome 21 that causes Down syndrome, that early diagnosis and screening of the fetus or mother through a sample of the mother's blood or samples from around the fetus are very important for the next stage for the mother and her child, explaining that early medical examinations and diagnosis can lead to the detection of many diseases, especially those related to fetuses and newborns.
She stated, "Early diagnosis of Down syndrome includes a series of tests performed to detect the likelihood of the fetus having Down syndrome. This examination can be done during pregnancy between 10 to 20 weeks. The early examination in the stage between weeks 10-14 of pregnancy is done through ultrasound to measure the amount of fluid behind the fetus's neck. Also, ultrasound imaging may provide some information about potential fetal congenital defects. The second stage of the examination is carried out in the stage between weeks 15-20 of pregnancy through maternal blood examination and collecting the results of the two stages of examination to evaluate the level of risk of the child having Down syndrome. After birth, Down syndrome can also be diagnosed by analyzing chromosomes."
In case significant indicators suggesting the existence of the syndrome appear during the pregnancy, Deemas confirmed that the team works to monitor the pregnancy, prepare the parents, and provide the necessary medical support for the fetus and postnatal health care, including surgical intervention if necessary, especially regarding heart defects and other accompanying problems associated with Down syndrome.
Deemas stated that the medical advancement in the field of early detection of fetal abnormalities and training medical personnel on ultrasound imaging techniques for the fetus has become possible, indicating that if obstetricians suspect Down syndrome, they are referred to specialists in the field of fetal medicine for detailed examination, and thus the necessary tests are performed to confirm or refute the diagnosis. She also noted the development of chromosomal disorder diagnosis tests through samples taken from the placenta, amniotic fluid around the fetus, or a sample of the mother's blood, where it is now possible to diagnose cases of Down syndrome and other syndromes.
Deemas praised the crucial role of Emirates Health Services in supporting the healthcare sector by providing its facilities with the latest in medical technology, confirming that EHS’ directions align with the wise government’s strategies, which prioritize achieving sustainability and improving individuals' health-related quality of life and well-being.
Deemas addressed EHS’ efforts to provide the best healthcare services for mothers and children with Down syndrome before and after birth, through early pregnancy screening services by performing early ultrasound imaging of the fetus, conducting necessary examinations before and after birth, providing medical and psychological support to the mother upon diagnosis of the condition in the fetus, and providing the necessary treatment and medical care for the new-born since birth.