In the context of prenatal screening, diagnostic tests such as amniocentesis and trophoblast are of high diagnostic accuracy but are accompanied by a low risk of pregnancy elimination (1/200 to 1/400 are amniocentesis rates and about 1 / 100 to receive trophoblast).
Non-invasive prenatal testing is the latest development in the field of prenatal diagnosis of chromosomal abnormalities. This is an innovative test based on the medical discovery that maternal blood circulates free fetal genetic material which can now be isolated and examined for the most common chromosomal abnormalities and syndromes.
The test is carried out by simple blood collection from the mother from the tenth (10th) week of pregnancy and the results are sent within five days of receipt of the sample.
The process is easy, 100% safe and with high precision results.
Non-invasive prenatal testing can detect a wide range of chromosomal abnormalities and conditions with high sensitivity:
- Trisomy 21 (Down Syndrome)> 99.1%
- Trisomy 18 (Edward's syndrome)> 99.9%
- Trisomy 13 (Patau Syndrome)> 91.7%
- Trisomy 16
- Trisomy 22
- Gender-related chromosomal abnormalities (96.2%)
- Turner Syndrome (XO)
- Klinefelter's syndrome (XXY)
- Triple X
- Hyperthylix (XXX) Jacobs Syndrome (XYY)
- The gender of the fetus
- Various microscopic syndromes, caused by a chromosomal deletion or lack of genetic material from a particular chromosome.
- DiGeorge Syndrome (22q)
- Angelman / Prader-Willi syndrome (15q)
- Jacobsen's Syndrome (11q)
It is recommended for all women of all ages, but is particularly indicated in pregnant women:
- Over 35 years of age
- Are considered high risk (abnormal neck examination, abnormal Papp-a test, suspected ultrasonographic findings, chromosomal markers in the second level ultrasound)
- With previous history of pregnancy with chromosomal abnormality
- Who want to learn about the health of their fetus
- After in vitro fertilization
Today, based on the potential of market tests and the guidelines of the scientific bodies, if the test shows that there is an increased probability that the embryo suffers from a chromosomal abnormality, genetic counseling and confirmation of the result by taking trophoblast or Amniocentesis, becomes necessary.