Is Amniocentesis necessary for the diagnosis of Down?


husband with pregnant wifeA new innovative method "discovers" Down syndrome with a special blood test and not necessarily with amniocentesis, as is done to date.


Pregnant women who are at high risk for Trisomy 13 and Down syndrome (over 35 and have a history) are still "forced" to undergo a variety of interventions so that their doctor can determine if the fetus they are carrying can show them. above syndromes. Thus, after examining the cervical transparency and finding that the nasal bone of the fetus is invisible, the doctor deems it necessary to perform amniocentesis or examination of chorionic villus. Amniocentesis and chorionic villus sampling are a huge headache for all pregnant women and cause anxiety, nerves and often depression as a result. Although compared to the past, these tests have become much more painless and safe, however there is always a rate of 1%, during which invasive methods can lead to miscarriage, which leads many pregnant women to despair. as soon as they are informed by their doctor that they have to proceed with amniocentesis.


The good news!

f you are over 35, you are expecting your first child and you are worried about the possibility of amniocentesis, great news is coming that will take you out of the difficult position and much more will dissolve all your negative thoughts. According to research by a scientific team from the University of Hong Kong, the detection of Down syndrome can now be done with a specialized blood test. More specifically, the research team under the supervision of Professor Dennis Lo of the University of Hong Kong examined blood samples (with the most advanced DNA technology) of 753 pregnant women, all of whom belonged to high-risk groups for Down syndrome, in Hong Kong, England. and the Netherlands. They then analyzed these blood samples, both genetically and hormonally, to see if there was a way to detect the syndrome in this way. How; Simply put, the researchers looked at the free RNA and DNA traces of the fetus circulating in the mother's blood. Eventually, 86 of these women became pregnant with Down syndrome. The researchers say that the results of this test are extremely accurate in terms of detecting Down syndrome in fetuses and that there is no room for statistical error. The study's authors conclude that the blood test could be used to rule out Down syndrome in high-risk pregnancies without the need for amniocentesis or chorionic villus sampling. Therefore, the number of cases that need to be treated with an intervention procedure may be reduced and thus the risks and complications involved in each intervention procedure may be reduced.


It is the first reliable blood test to be discovered by scientists and promises to bring revolution to the prenatal diagnosis of Down syndrome within three to five years of further testing, as it will be the most painless and safe for the fetus before birth. As Dr. Dennis Lo himself stated, the new test will have a positive effect on rescuing more fetuses from dangerous processes.


What is Down syndrome?

Down syndrome is not a disease! People do not suffer from it, nor are they victims. Down syndrome is a genetic condition that affects about 1 in 600-700 births of children. The term "syndrome" means a set of common characteristics, which are evident not only physically but also to a degree of mental insufficiency or learning disability. Down syndrome is caused by an extra chromosome in the 21st pair, hence the classification as Trisomy 21.


How is it diagnosed?

During a cervical smear (a significant ultrasound performed around the 12th week of pregnancy) your doctor will also see if there is a nasal bone. If the nasal bone is not obvious, he will recommend additional tests to see if it is Down syndrome. Despite the opposite perception, most babies with Down syndrome are born to young mothers and not older ones, as we used to think.

Sources:  ,  British Medical Journal.


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