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What are Non-invasive prenatal tests?
Cell-free foetal DNA tests are the most complete non-invasive prenatal tests that exist. They detect the presence of anomalies in chromosomes 21, 18 and 13 (Down, Edwards and Patau syndromes) and the most common anomalies generated by the sex chromosomes (X and Y).
Other more advanced cell-free foetal DNA tests also exist, incorporating the detection of other trisomies related to first trimester miscarriages, and identifying microdeletions related to important genetic syndromes.
In what cases is it indicated?
The test is recommended for all women who want to rule out the presence of chromosomal abnormalities in the foetus without putting their pregnancy at risk.
The test is especially suitable for women with a high risk of chromosomal abnormalities following 1st trimester screening (hormone analysis and ultrasound scan), or who have had a previous Down’s syndrome pregnancy. This test is also recommended in the case of a twin pregnancy.
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Cell-free foetal DNA tests use the latest sequencing technology to analyse foetal DNA in relation to maternal DNA to detect certain anomalies with great precision and reliability.
Cell-free foetal DNA tests have an accuracy of up to 99.7% in foetuses with Down Syndrome, as well as other frequent anomalies (chromosomes 18, 13, X and Y) with the same reliability.
This type of test can be performed in Spanish laboratories, meaning the results can be obtained within 3 days from reception of the sample.
During pregnancy, a baby’s DNA circulates in the mother’s bloodstream. Huge advances in the field of genetics make it possible for us to detect this foetal DNA in the mother’s blood for the first time and to access genetic information regarding the baby’s chromosomes.
Human beings have 23 pairs of chromosomes, making a total of 46 (two copies of each pair). The first 22 pairs are numbered from 1 to 22. The last pair determines the sex. Girls have two X chromosomes and boys have one X chromosome and one Y chromosome. Health and development problems arise when a chromosome is missing or there is an extra chromosome.