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The importance of screening

A prenatal screening test is a safe technique used for determining the fetus’s risk of being affected by certain medical conditions, including Down syndrome. Several types of prenatal screening tests are currently available. In all cases, the result is a probability, not a certainty.

 

A low risk on a prenatal screening test does not mean that the fetus doesn’t have the condition, but rather that the probability is low. Similarly, a high risk doesn’t necessarily mean that the fetus has a trisomy, but that the risk is higher. At this point, a prenatal diagnostic test can be done to determine whether or not the fetus is affected.

 

Some couples will choose to have a prenatal screening test to obtain more information about the health of the fetus without jeopardizing the pregnancy. The decision whether or not to have a prenatal screening test, as well as the type of test used, is a personal one.

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CONDITIONS DETECTED BY VARIOUS PRENATAL SCREENING TESTS

Trisomy 21 (Down syndrome) :

Individuals with Down syndrome will have varying degrees of intellectual disabilities, as well as characteristic physical traits. They may also have other health problems and birth defects.

 

Trisomy 18 (Edwards syndrome) :

Edwards syndrome is characterized by intellectual disabilities, significant growth delays, and several other birth defects. Life expectancy is extremely shortened and a large number of pregnancies with Edwards syndrome will miscarry before birth.

 

Trisomy 13 (Patau syndrome):

Patau syndrome is characterized by severe birth defects that are often visible on ultrasound. Most pregnancies with Patau syndrome will end in miscarriage.

 

Monosomy X (Turner syndrome):

Turner syndrome can present in various ways, including heart, kidney and morphological defects. Only girls are affected by Turner syndrome.

 

Others :

Triploid syndromes, other sex chromosome abnormalities, certain microdeletions.