Diagnosis of Down’s syndrome
Often the above mentioned characteristics allow a suspected diagnosis, although one should not assume that children with Down syndrome necessarily have all these characteristics. In order to confirm the suspicion of the presence of Down syndrome, a chromosome analysis must be confirmed by means of a blood test. In addition, the internal organs, especially the heart, should be examined for malformations.
The diagnosis can also be made in the womb using chromosome analysis. There are various methods for this. Both amniotic fluid and samples of the placenta can be taken.
These samples are then genetically examined. In addition, a prenatal test offers the possibility of examining the mother’s blood for the genetic material of the child and thus detecting changes even before birth with low risk. It should be noted that prenatal characteristics in the fetus are not sufficient as criteria for a diagnosis.
In principle, Down syndrome can be diagnosed at a very early stage, provided that there is a well-founded suspicion. This early diagnosis can be made by analyzing the embryonic genetic material. In principle, a diagnosis is therefore possible as early as the 10th week of pregnancy.
However, the genetic material is obtained by invasive methods either from the umbilical cord, the amniotic fluid or the placenta and is therefore always associated with a certain risk of miscarriage. More recent methods, on the other hand, make it possible to filter out and analyze fragments of the embryonic genetic material from the mother’s blood. However, these methods are not yet fully established. However, an ultrasound scan as part of prenatal diagnostics can also provide initial indications of the presence of trisomy 21. The most common signs here are a small head (microcephaly), heart defects or generally low growth.
Therapy
Nowadays, physical complaints such as heart defects or a high palate can be well treated with operations.Possible visual defects are compensated by means of glasses. Furthermore, speech disorders that may occur can be treated by speech therapists. For the training of skills and for further support of children with Down syndrome, further therapy options such as occupational therapy, physiotherapy and also animal-supported forms of therapy (e.g. curative riding) are available.