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Down Syndrome (Trisomy 21)

Down syndrome is a condition that delays both physical and mental development of a child due to excess of genetic material. 1 out of 800 babies is affected.

Prenatal Screening and Diagnosis

Down syndrome is diagnosed by two types of prenatal tests on a fetus, screening and diagnostic tests. Screening tests calculate the DS risk chance in a fetus, while diagnostic tests can show if the fetus is affected by the condition. Screening tests are easy to perform and not expensive. Because they are inconclusive and can’t confirm the presence of the syndrome, they are used as initial test. After seeing the chances, the parents can decide whether to do Diagnostic tests as well or not.

Diagnostic tests are used to detect chromosomal abnormalities including the Down syndrome. They are close to 99% accurate. The problem is that they are done inside the uterus, and therefore increase the risk of birth complications or even miscarriage. Because of this the diagnostic tests were advised only to women over 35, to those who had abnormal results on screening and those with a genetic defects history in the family. Nowadays, the American College of Obstetrics and Gynaecology is recommending the invasive Down syndrome diagnostic testing to all the pregnant women.

It is recommended to contact a genetic counselor or the doctor, who will help with the choice and clear up all uncertainties by explaining the positive and negative side of the test.

Respiratory disorders of Down syndrome

Breathing problems that accompany the Down syndrome are usually primary cause to disease and hospitalization, especially in small children. The problem is often underestimated and there are very little published studies on this subject. Due to this, Specialist investigation and treatment is not requested often. Breathing problems affect increased sleep related lower airways problems and upper airway obstruction. The underlying pathology of breathing problems is often multifactoral. The can cause lower airways problems contributory factors are hypotonia, immune dysfunction, Gastro-oesophageal reflux, cardiac disease, relative obesity, small lower air compression, large airway compression, tracheobronchomalacia, sub pleural cysts and pulmon ary hypoplasia.

In case of upper airway problems the contributing factors include increased secretion, relative glossoptosis, obesity, hypotonia, mid face hypoplasia, nasal congestion, tonsils, adenoids and small upper airwayvolume.

It is very important to diagnose the gastro-oesophageal reflux possibility in time, so it can be investigated and treated aggressively by attempt to eradicate nasal congestion that includes trial cow’s milk free diet, continuous intermittent antibiotics low dose and nuk decongester or mechanical decongestion. Chronic lower airway disease should also be treated aggressively by regular inhaled corticosteroids and continuous prophylactic antibiotics.

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