At 12 weeks of pregnancy, the future mother has an ultrasound and biochemical analysis, within the standard prenatal diagnosis. If the results indicate a suspicion that the baby may have a congenital genetic abnormality, other more specific complementary tests, such as amniocentesis such as amniocentesis or corial biopsy) are performed, to confirm the diagnosis of fetal chromosomopathies.
Now, the Andalusian Health Service (SAS) has included the Non-Invasive Prenatal Test (TPNI) within the Congenital Anomaly Screening Program, which allows to detect the same genetic abnormalities with a simple blood test of the mother, without having to resort to the other invasive tests, which involve an abortion risk of one percent.
Safe and equally effective
As explained by the Junta de Andalucía in a press release, the new prenatal blood test is a breakthrough because it minimizes risks to the mother and the fetus, optimizes the reliability of the results and helps reduce the parents' anxiety.
The test consists of a blood draw to the pregnant woman where the fetal DNA is analyzed, which is circulating free in the maternal blood.Andalusia becomes the second autonomous community to offer this test, as a complementary test in the first trimester of pregnancy, after the Valencian Community, which announced its inclusion last April.
In Babies and more A new blood test can diagnose genetic disorders from the first weeks of pregnancy Its objective is to improve the detection rate of chromosomal abnormalities in the fetus and decrease the number of false positives of the Combined Screening of the First Trimester.
This new technique, offered by Medical Societies or privately, improves the screening program for the most frequent chromosomopathies such as trisomies 21 or Down syndrome; 18 or Edwards syndrome and 13, or Patau syndrome. Its false positive rate is less than 0.1%.
When recommended
The Junta de Andalucía estimates that this new technique, which It can be done from the 10th week of gestation, will benefit between 3.6 and 4.95% of pregnant women in the Community, or what is the same: between 3,000 and 4,000 women every year.
It will be done when a risk of 1/50 to 1/280 is determined in the combined screening of the first trimester or in those women who have already had a child with any chromosomopathy.
In Babies and more Five major concerns of pregnant women in the first trimester: do you feel identified?The SAS warns that there are special situations that require an individual assessment and in which the reliability of the test results decreases: pregnant women with obesity, pregnancy resulting from assisted reproduction techniques (ART), first degree consanguinity or multiple pregnancy.
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