Down Syndrome-II

How to diagnose Down syndrome
A combined test is conducted which is a combination of ultrasound and blood test which is also termed as Antenatal screening. In the blood test a sample will be drawn for checking certain hormones and proteins levels which if found at abnormal levels suggest the possibility of increased risk of Down’s Syndrome. Similarly a special type of ultrasound called as Nuchal Translucency will be performed. The procedure is the same as that of the Normal ultrasound except that it measures the spacing of spine and nape of the neck of the unborn baby. All babies have fluid in neck, but Down’s Syndrome babies have more fluid than normal babies and this test will measure the thickness of fluid to determine the likely hood of Down’s Syndrome baby. Though these tests cannot diagnose Down’s Syndrome condition but it will assess that during pregnancy if there is a possibility or risk of the unborn baby developing an abnormality or any other condition. If the test shows the risk is high, then further testing is required to confirm whether the unborn child has the condition.
Normally two tests are conducted which help in diagnosing potential problems of health for the baby in the womb. They are called Amniocentesis and Chronic villus sampling (CVS). You should discuss in detail all the options with your midwife or doctor as it is important to know that in very rare cases, these tests can lead to complications
CVS (Chorionic villus sampling) is normally conducted after 10 weeks of pregnancy where a very small sample of placenta (the organ where foetus is nourished and protected) is drawn through inserting a needle in the walls of the abdomen alternatively a small tube is inserted into the vagina to the neck of the womb (cervix) and the correct positioning of the tube is done with the guidance of ultrasound scan. The sample of the placenta drawn is then tested in the laboratory which will show if the unborn child has Down’s Syndrome.
Mostly there is no cause of complications in the procedures, however in rare cases infection and heavy bleeding have been reported of women who undergo CVS and similarly 1% cases of miscarriage have also been reported. It is also important to note that in most of the cases the procedure does not cause complications and the percentage of miscarriage is very small.
The second test called Amniocentesis is usually done between 15 to 22 weeks of pregnancy. A sample of amniotic fluid (this is the fluid surrounding the foetus) is drawn by inserting needle through the abdomen and womb which is guided by the ultrasound scan and the sample is drawn by a syringe which is further sent for testing to the laboratory. Possibility of complications includes injury to the baby or the mother or infection. As with CVS, here also there is 1% possibility of miscarriage. However this procedure is fairly common with a low risk of complication.
Counselling after detection of Down syndrome
Initial this news comes as a shock to the parents, hence Counselling is required to both the parents which allows the parents to express themselves and ask questions relating to the effects of this on the future life wherein the counsellor will provide various options which will help the parents to take decisions of how to go ahead with the pregnancy after having all the required information.