Fetal DNA Test (NIPT)
A safe and reliable non-invasive prenatal test for a serene pregnancy
What are chromosomal abnormalities?
Human beings have 23 pairs of chromosomes (46 chromosomes in total), DNA strands and proteins containing the genetic information needed for the body to form and function.
Chromosomal abnormalities are conditions in which the number and/or structure of chromosomes may differ from the normal arrangement. Specifically, trisomies are conditions in which the individual has three copies of the same chromosome instead of the usual two. For example, Trisomy 21 involves the presence of three copies of chromosome 21, a condition associated with the well-known Down’s syndrome.
Early detection of the presence of a chromosomal abnormality allows parents-to-be to plan appropriate obstetrical-gynaecological management of both the continuation of pregnancy and childbirth.
What does the Fetal DNA Test (NIPT) consist of?
It is a very simple test that involves a blood draw and allows the analysis of fragments of circulating free fetal DNA.
The term NIPT (Non-Invasive Prenatal Test) refers to a non-invasive prenatal test that analyzes fetal DNA present in the mother’s blood. The Fetal DNA Test (NIPT) can be performed from the 10th week of pregnancy.
When is it indicated?
- Single and twin pregnancies (up to two twins)
- Naturally obtained pregnancies
- Pregnancies obtained through assisted fertilization techniques, both homologous and heterologous (single and twin)
- Pregnancies with contraindications to invasive diagnosis.
- In the case of biochemical screening tests with low and/or intermediate risk results.
Which anomalies does the Fetal DNA Test (NIPT) detect?
T21, T18, T13 = Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome).
Other autosomal anomalies = Trisomies of non-sex chromosomes in addition to T21, T18, and T13.
Sex chromosome anomalies = Monosomy X (XO), Trisomy X (XXX), Klinefelter syndrome (XXY), Jacobs syndrome (XYY).
Structural anomalies = Microdeletions and microduplications larger than 7 Mb.
Fetal sex = Male or female, determined by the presence or absence of the Y chromosome.
This is a test
- free of risk to the foetus
- Greater than 99% specificity for the most frequent chromosomal abnormalities (T21, T18, T13)
- Results in just 7 working days
- CE-IVD registered procedure
