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Down Syndrome (Trisomy 21)

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

Prenatal Screening and Diagnosis

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

Diagnostic tests are used to detect chromosomalabnormalities including the Down syndrome. They are close to 99% accurate. Theproblem is that they are done inside the uterus, and therefore increase therisk of birth complications or even miscarriage. Because of this the diagnostictests were advised only to women over 35, to those who had abnormal results onscreening and those with a genetic defects history in the family. Nowadays, theAmerican College of Obstetrics and Gynaecology is recommending the invasiveDown syndrome diagnostic testing to all the pregnant women.

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

Respiratory disorders of Down syndrome

Breathing problems that accompany the Down syndrome areusually primary cause to disease and hospitalization, especially in smallchildren. The problem is often underestimated and there are very little publishedstudies on this subject. Due to this, Specialist investigation and treatment isnot requested often. Breathing problems affect increased sleep related lowerairways problems and upper airway obstruction. The underlying pathology of breathingproblems is often multifactoral. The can cause lower airways problems contributoryfactors are hypotonia, immune dysfunction, Gastro-oesophageal reflux, cardiacdisease, relative obesity, small lower air compression, large airwaycompression, tracheobronchomalacia, sub pleural cysts and pulmonary hypoplasia.

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

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

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