Testing to Find WS

Diagnosis is usually made during infancy if there are heart problems. It is also possible to diagnose someone with Williams Syndrome after they have been introduced into a school, but seem to learn much slower than they should be. The diagnosis is confirmed by a full physical and mental examination of the person; this is performed by a doctor who is familiar with the genetic disorder.

Because Williams Syndrome is a genetic disorder, it is possible to check DNA samples from the mother’s womb during her pregnancy.

One way to do this is by a prenatal test performed between 10 and 12 weeks of pregnancy called Chorionic Villus Sampling. This kind of testing is done by removing a small amount of tissue from the placenta. In the placenta, there are finger shaped growths known as the Chorionic Villi. The tissues in these tiny organisms are made of the same genetic makings the baby is. The sample is taken one of two ways. The first is inserting a flexible tube into the vagina and cervix of the mother. The second is taken by withdrawing samples through a needle put into the belly; the needle is then guided into the placenta by ultrasound. The percentages for possible danger are low, however, they still occur: the tests can cause fetal damage or a miscarriage.

The second way to text for Williams Syndrome is by Amniocentesis. Done between the 16 and 18th weeks of pregnancy, it involves taking a bit of amniotic fluid from the fetus (amniotic fluid is the liquid surrounding the developing baby). Before the sample is taken, the baby is carefully studied by ultrasound to discover it’s most fundamental and basic anatomy so the needle will be guided into the right place. This is the longest part of the entire procedure. Then a needle will be inserted into the stomach and withdraw about two tablespoons of amniotic fluid from the placenta.

Both of these tests can be performed to give an idea of a possibility of a genetic disorder; still, the test is not conclusive. Meaning the results may come back opposite or non-corresponding to the baby’s actual state of being. The test does not ultimately confirm the fate of the developing infant. It is also possible the test executed may cause damage to the fetus or a miscarriage. The chance is unlikely for either to happen, but still must be addressed.

A test that is not commonly used, and not commonly heard of is called a FISH test. This test is expensive, but is essentially a biopsy on chromosomes. The chromosomes being inspected are dyed with fluid and then looked at under a microscope.

Some symptoms that may be cause for testing:

·         elevation of blood calcium levels

·         low birth weight, slow weight gain

·         heart and blood vessel problems

·         feeding problems (usually from 4-10 months)

·         problems in kidney functions

·         sensitive hearing

·         low muscle tone (joint stiffness as they age)

·         developmental delays

·         learning delay