Diagnosis and Treatment of Down Syndrome

Most asked question is, “Is Down syndrome inherited from the father or the mother?”

Most of the time Down syndrome is not inherited. However Translocation Down syndrome is passed from the parent to the child. 3-4 percent of children with Down syndrome have Translocation and only some of them inherited bit from their parents.

When balanced translocations are inherited, either of the parents has some rearranged genetic material from chromosome 21 on another chromosome but no extra genetic material. This means that he or she doesn’t have signs and symptoms of Down syndrome.

However they can pass an unbalanced translocation to their children thus causing Down syndrome.

Down syndrome can be passed from either of the parents. This is because the human cells contain 23 pairs of chromosomes. Half from the father and half from the mother.

Diagnosing Down Syndrome

To be able to diagnose Down syndrome you can do screening during pregnancy. This may be because the mother is over 35 years or the father is over 40 years or there is a family history of Down syndrome.

Tests to be done during the first trimester include but not limited to ultrasound evaluation and blood tests.

This will help look for Down syndrome in your fetus. However the tests may have a high false-positive rate than test done at a later pregnancy stage.

If the results are abnormal , your doctor may follow up with a test called amniocentesis after the 15th week of pregnancy.

In the second trimester you can have an ultrasound and quadruple marker screen test. This helps identify Down syndrome and other birth defects in the brain and the spinal cord.

These tests are done between the 15th and 20th weeks pregnancy. If these tests are abnormal you’ll be considered to be at a high risk of birth defects.

Additional prenatal test that your doctor may order

Amniocentesis -This is usually done after the 15weeks. Your doctor takes a sample of amniotic fluids so as to examine the number of chromosomes your fetus has.

Chorionic villus sampling (CVS) – It is always done between the 9th-14th week of pregnancy.Cells will be taken from your placenta to analyze fetal chromosomes.

Percutaneous umbilical blood sampling. (PUBS or cordocentesis.) – Blood will be taken from the umbilical cord. It will be examined for chromosomal defects It is done after the 18th week of pregnancy.
It has a higher risk of miscarriage so it’s done if all the tests are uncertain.

At birth your doctor will perform a physical examination of your baby. The doctor will also order a blood test called karyotype. This is for confirming Down syndrome.

There’s no cure for Down Syndrome.

However there’s a wide variety of support and educational programs that help people with this condition and their families. In Kenya there is Down syndrome society of Kenya(DSSK). It one place where one can get support and also materials to help one understand Down syndrome.

It also helps one access therapy and special education if need be. This teachers and therapists will help your child learn:
Sensory skills
Social skills
Self-help skills
Motor skills
Language and cognitive abilities.

When raising a child with Down syndrome, you’ll need a close relationship with Medics who understand the unique challenges associated with this condition.

People with Down syndrome live a longer and richer lives now. They can face challenges but they can also overcome them.

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