Down syndrome in maternal blood

Down syndrome in maternal blood

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The mother's concern for the health of her baby during pregnancy is one of the issues that make gynecologists reflect the most in their obstetric consultations. Science continues to help all those future moms who want to know if their baby is healthy as soon as possible and with this objective, research continues to be even earlier and more reliable in diagnoses. The result of this research effort is the detection of Down syndrome in maternal blood.

It is no longer necessary to wait for the 12 week ultrasound where a nuchal fold measurement is performed to determine, always with a certain margin of error, a possible Down syndrome. In general, it was necessary to wait until amniocentesis to confirm this possible diagnosis with certainty.

The good news is that from the tenth week of gestation it is possible to detect chromosomal abnormalities, simply with a blood test from the mother, which has no risk to the fetus. This non-invasive test analyzes fetal DNA It is present in the mother's blood and allows tracking abnormalities such as Down syndrome, linked to chromosome 21, or those associated with pairs 13 and 18, the three most frequent causes of psychomotor retardation.

Studies published to date have shown that the test has detection rates of up to 99 percent, with only 0.1 percent false positives. It is indicated not only for high-risk pregnant women but also as a screening test for the entire general population.

This test has been made possible because it has been found that fetal DNA can be detected in maternal blood even though it is in the minority and constitutes less than 15 percent of the total. With this technique, the presence of the Y chromosome can also be detected, which makes it possible to find out the sex of the baby, or the Rh factor, in case of risk of hemolytic disease. The test does not replace the usual prenatal diagnosis, such as biochemical markers in maternal blood (triple screnning) or the special 12-week ultrasound, both covered by most health insurers, but relies on them.

Marisol New. Editor of our site

You can read more articles similar to Down syndrome in maternal blood, in the category of Diseases - annoyances on site.

Video: New Downs syndrome blood test raises hopes and fears. (July 2022).


  1. Kazizil

    Between us speaking, I would try to solve this problem itself.

  2. Adil

    Improbably. It seems impossible.

  3. Ghislain

    Bravo, a beautiful sentence and on time

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