With over 20 years of experience in genetic testing, Prenatalsafe® ensures accurate testing of circulating fetal DNA.
The Prenatalsafe tests will to investigate the presence of:
- Aneuploidies in all the chromosomes of the fetus
- Deletions and duplications on all chromosomes (>7Mb)
- 9 microdeletion syndromes
- Inherited and de novo genetic diseases
What is NIPT?
Non-invasive prenatal testing (NIPT), since its introduction into clinical practice over 10 years ago, has positively influenced prenatal diagnosis1.
NIPT has established itself as a safe alternative to invasive investigations (i.e. amniocentesis and villocentesis) while ensuring high reliability in relation to serological tests such as the Bi-test.
Who is NIPT for?
Any expectant mother, single or twin pregnancies, obtained with either natural conception or MAP techniques, autologous and heterologous.
How does NIPT work?
It is a non-invasive test that allows studying fetal genetic material with a simple blood sample from the mother.
The test can detect and analyse fetal DNA circulating in maternal blood to identify the presence of chromosomal abnormalities and genetic diseases in the fetus.
The amount of fetal DNA increases during pregnancy and from week 10 of gestation is adequate for screening. If this quantity is not reached, a second sampling may be recommended.
The chromosome set (called a karyotype) comprises 23 pairs of chromosomes, half inherited from the mother and half from the father:
- 22 pairs of non-sex chromosomes
- 1 pair of sex chromosomes
Chromosomes are formed from DNA. Some DNA segments are defined as GENES and provide the cell with the information gene required to perform its function.
Abnormalities in the delicate process that leads to the formation of gametes can cause different types of alterations:
- Abnormalities in the number of chromosomes: aneuploidies
- Abnormalities in the structure of chromosomes
Variations in the DNA sequence called genetic mutations can occur. This kind of alteration may be inherited from parents, or occur for the first time in the fetus and cause:
The frequency of these alterations increases mainly with maternal age, but also advanced paternal age may be a risk factor.
What can be investigated with NIPT?
Abnormalities in the number of chromosomes: aneuploidies
- TRISOMY: three copies of a chromosome
- MONOSOMY: a single copy of a chromosome
Among the most common ones2:
- Trisomy of chromosome 21 (Down Syndrome): 1 in 700 births
- Trisomy of chromosome 18 (Edwards Syndrome): 1 in 3,000 births
- Trisomy of chromosome 13 (Patau Syndrome): 1 in 6,000 births
Incidence increases with increasing maternal age3.
Abnormalities in the structure of chromosomes
- DELETION: loss of a chromosome segment
- DUPLICATION: doubling of a chromosome segment
If these rearrangements are very small, they are called microdeletions and microduplications.
Microdeletion 22q11.3 is the most frequent microdeletion and is linked to DiGeorge syndrome, which has an incidence of 1/2.000–4.000 people, regardless of maternal age4.
- DE NOVO: caused by DNA mutations that occur for the first time in the fetus
- HEREDITARY: caused by mutations inherited from parents
It is important to test specifically for the possibility of being a healthy carrier. A healthy carrier is one who can transmit the disease but is not affected and therefore has no symptoms.
- Free pre-test genetic counselling to identify the suitable level for the couple's needs
- Free post-test genetic counselling if positive