A common example of a chromosomal abnormality is Down's syndrome. In this condition, the fetus has an extra copy of one of the chromosomes. This results in babies with developmental problems, cardiac
define defects and a distinctive facial appearance.
Amniocentesis confirms the Down's syndrome. Here, a needle is used to take a sample of the fluid within the womb. This test is not normally offered to all pregnant women in the UK but is useful in revealing other birth defects like Edward's syndrome and Patau syndrome.
There are evidences that this test, which uses the fluid around the baby as sample, can cause miscarriage. As a result, roughly 1 in 100 women will miscarry due to the test.
The Royal College of Midwives stated that the UK paid attention a small number of most common defects but with valuable information for pregnant women rather than leaving them with disturbing information about some rare defects.
Dr Francesca Grati, from the TOMA Laboratory in Busto Arsizio, examined some 100,000 prenatal diagnoses which used insidious tests like amniocentesis and studied them to find out which chromosomal abnormalities had been missed.
While addressing the European Society of Human Genetics conference in Barcelona, she declared that these tests identified only half the abnormalities present in the samples. "There are many others which are not picked up by these tests, and the tests do not even detect 100% of the common abnormalities" she added.
She laid importance on doctors counseling their patients on the basics and limitations of some screening methods, so that they can screen themselves through amniocentesis for any risks.
She said: "I think we are very good at providing information to women in this country about these tests and their risks."If you were to tell women about 50 different conditions, some of which have a one in 150,000 chance of happening, they will not be able to absorb it."
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