Screening Test to Detect Down’s Syndrome: a Double-Edged Weapon

Some centres offer the possibility of a test for the detection of chromosomal abnormalities in the first trimester of pregnancy.

The test is also called Triple screening or triple test because it is based on three markers: two biochemical and one ultrasound, i.e. a blood tests of mother and an ultrasound which measures measurements translucency of the fetus week 11 and week 13 of pregnancy. A thickness exceeding the normal measures for gestation age could be an indicator of an abnormality.

In my case, I consulted if he wanted to make me the screening test to week 13 of pregnancy. I have agreed and that was my mistake because it has given me an unjustified anxiety throughout pregnancy.

The test is certainly a step towards the early detection of problems in the baby and that’s good. Trisomies (produced by chromosomal diseases) as syndrome of Down and Patau syndrome and Edwards syndrome can be detected. The screening test It also helps reduce the number of amniocentesis when the test result shows that the chances of the baby of a chromosomal deficiency are minimal.

Let us remember that amniocentesis has its risks, though minimal, but has them. The risk of miscarriage is 0.5% and 1% to 2% risk of complications caused by infections. Although it is also true that for the time being is the only way to have a reliable confirmation, along with vellocidades sampling, both tests invasive biopsy. We talked about in the blog being carried out preliminary investigations to create a diagnostic test noninvasive made from the mother’s blood. We hope to have it in the near future.

As I said, the screening test helps to avoid amniocentesis, and of course, its side effects, especially in women under 35 years old, considered less likely to have a child with a chromosomal alteration. But not all are advantages. The test also has their buts.

We must clarify that the test is not a diagnostic test, but that is an estimate based on statistical variables. I.e. throws so many a chance that the baby has a fault. In my case the risk according to the test was quite high, a possibility of 1 153 when the reference scale is 10,000 and the Court are situated at 250. In other words, if the risk is greater (that is, less than 250) is recommended to continue with the study whereas if it is less, is considered that the risk is minimal, it is not the same as saying that risk there is no.

I tell you my experience. Although measuring nuchal was normal, recommended me an amniocentesis. You can imagine my anguish at the time. We decided to not do it, because the odds that my baby had any anomaly amounted to a possibility of any complication by the intervention. In addition, can understand acceptable risk in the couple having very clear that we will go ahead with the pregnancy if your baby has a problem such as Down syndrome. It was certainly not our case. I respect all the decisions, but never kill a child because it wasn’t “normal”.

I.e., on the one hand test serves to avoid amniocentesis when the risk is minimal, but promotes them when the risk is high. I.e. could I risked an abortion when obviously my baby had nothing.

We speak with the doctors and decided to take controls ultrasound more comprehensive if have any other marker of Down syndrome as a congenital heart disease or abnormal growth.

Fortunately, tests were always with positive results which was gradually dissipating my anguish. To finish the story, I tell you that the girl was born healthy, without any kind of anomaly.

With my story I want to see that it is great that there are ever more reliable tests to detect possible problems. But it is also worrying to the use which is made of the tests, as it is shocking know that increasingly are fewer children born with Down syndrome “ thank you ” to the screening tests. Clear having preventive use, in fact, if my baby would have been something I would have liked knowing it prior to delivery to take it and be better informed and prepared to provide you with everything you need.

But as you know, medicine is not an exact science and can sometimes play tricks to us. At the moment, is the only filter that we have before amniocentesis, but we hope to soon have more conclusive evidence.