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The mission of genetics is to help people have a better knowledge of their own health and of the future of their children, providing physicians and families with timely genetic information that allows them to make the most appropriate medical choices.

 

Most common diseases are caused by a combination of mutations, lifestyle choices, and your environment. Even people with similar genes may or may not get an illness if they make different choices or live in a different environment. Thousands of diseases are caused by a specific change in the DNA of a single gene.

Why is genetics important to my family and me?

Genetics helps to explain:

  • What makes you unique, or one of a kind
  • Why family members look alike
  • Why some diseases like diabetes or cancer run in families
  • How learning your family health history can help you stay healthy
  • Why you should bring your family health history to your healthcare provider

Taking time to learn about health and diseases that run in your family is worth it! It will help you understand your own health and make healthy choices.

In the prenatal field, the study of free fetal DNA circulating in the maternal blood is playing a crucial role to evaluate the risk of the presence of chromosomal abnormalities.

It has been shown that, starting from the first trimester of pregnancy, there is a free DNA of fetal origin (cell free fetal DNA, cffDNA) in the maternal bloodstream, which can be recovered in a non-invasive way and used for the study of some fetal pathologies.

Starting from the 5th week of amenorrhea, the placental cytotrophoblast is anchored to the uterine parietal decidua, the deciduous spiral arteries irrigate the gaps between the decidua and the placenta, the cytotrophoblast invades and covers the walls of the spiral-shaped uterine arteries and remodels them. The replacement of the trophoblast cells, which covers the walls of the spiral-shaped arteries, mediated by the cytokines, releases the DNA. The degraded fetal DNA fragments contain about 180 base pairs (bp) and are suspended in the arterial plasma.

The cffDNA can be isolated early from the 10th week when it reaches sufficient quantities for potential clinical use. Its percentage may vary between <4%, an amount not useful for diagnosis, up to about 40%, with an average of 10%, at the 12th week, when about 90% of the free DNA fragments circulating in the plasma originate from the apoptosis of the maternal epithelia, creating a mixture of maternal and cffDNA cfDNA. The percentage of cffDNA is called “fetal fraction” (FF). CffDNA is no longer available in the maternal circulation a few hours after delivery and is most likely eliminated through renal excretion.

NIPT is, in fact, a prenatal test performed without any invasiveness, by means of a maternal blood sample that, with high sensitivity and specificity values, allows to highlight the presence/absence of chromosomal abnormalities.

There are different types of NIPT:

NIPT BASE: they evaluate Trisomies 21-18-13 and fetal sex

NIPT CLASSIC: it also evaluates the aneuploidies of the sex chromosomes and the main deletions which should be classified importantly based on FF and size threshold

NIPT COMPLETE: electronic digital karyotype (numerical anomalies on the autosomes, on the chromosomes sexual and deletions) The highest performance values ​​are recorded on Trisomies 21, 18, 13.

There are different methods of analysis:

  • NGS- whole genome sequencing of all fetal DNA (most accurate method)
  • SNPs: Sequencing of target regions (normally limited to 21-18-13-XY) based on Single Nucleotide Polymorphisms

It is important to use a certified NIPT.

The highest certification in this area is the CE-IVD (Directive 98/79 / EC), which indicates that the product complies with the essential requirements of European standards, both for engineering and clinical use of the test itself. All workflows relating to Trisomies 21-18-13 and fetal sex can be certified.

Tranquility family products are non-invasive prenatal tests, CE-IVD marked,  that detect numerical and structural chromosomal abnormalities and also identify the baby’s sex.

DNA is extracted and purified from the mother’s blood sample and analysed via whole genome sequencing method using Next-Generation Sequencing (NGS) technology. This allows the most comprehensive screening. Sequencing data are thoroughly analysed by enhanced bioinformatics, to deliver clear and reliable test results.