WHAT IS NIFTY?

The NIFTY test is a highly accurate non-invasive prenatal test (NIPT) that screens for chromosomal aneuploidies, including trisomies 21, 18 and 13, as early as 10 weeks of pregnancy.

NIFTY provides a significantly stronger risk indicator than traditional screening procedures. With a sensitivity rate of > 99% (validated in over 112,000 pregnancies) and a false positive rate of only 0.1% for trisomies 21, 18 and 13, NIFTY ensures that the number of women undergoing unnecessary invasive diagnostic procedures is significantly reduced.

WHY CHOOSE THE NON-INVASIVE PRENATAL TEST?

What makes NIFTY different from other traditional diagnostic methods? 

Many non-invasive prenatal tests are now available. However, compared to the NIPT test, traditional methods of prenatal examinations suffer from low safety and a high rate of false positive results. While invasive prenatal tests such as amniocentesis or chorionic villus sampling (CVS) provide safe results but have a risk of high 1-2% for pregnancy loss.

Why Conduct the NIFTY Test?

It can be performed from the 10th week of pregnancy.
The NIFTY test gives you an early opportunity to know more about your child’s genetic health.
Compared to other tests, the Nifty test offers high accuracy and low false positive rates. This means that fewer women will undergo invasive diagnostic procedures such as amniocentesis or chorionic cord sampling, which carry a 1-2% risk of miscarriage.
Nifty is a non-invasive method and therefore poses no risk to the mother or child.

Is the Nifty™ Test right for me?

The Miracle Test ™ is available to every pregnant woman from the 10th week of pregnancy, but it is especially suitable for pregnant women who show certain signs which are highlighted below.

Remember, non-invasive prenatal testing may or may not be right for you. Before undertaking any non-invasive prenatal testing, you should consult with a qualified health care professional regarding any risks, diagnosis, treatment and/or other potentially important health care issues.

Avantazhet e NIFTY:

Kapaciteti dhe mbulimii gjerë e bëjnë NIFTY konkurues në cmim krahasuar me prodhuesit e tjerë të NIPT në botë.

Ështëi vetmi test joinvaziv prenatal i cili siguron testimin edhe të sindromave nga diletimi kromozomal dhe aneupliodii kromozomeve seksuale pa rritje të cmimit.

Është testi joinvaziv prenatal mëi vleresuar në treg me të dhena studimore të publikuara të bazuara në rezultatet e 112000 shtatëzanive dhe 500000 rasteve të kryera deri më sot.

E para kompani që ofron testin prenatal joinvaziv për përdorim klinik në të gjithë botën.

GENETIC CONDITIONS TESTED BY NIFTY
1. Trisomies

A trisomy is a type of aneuploidy in which there are three chromosomes instead of the usual pair. Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome) are the three most common autosomal chromosomal aneuploidies in live births. These chromosomal conditions are caused by the presence of an extra copy or partial copy of chromosome 21, 18 or 13 respectively. This additional genetic material can cause dysmorphic features, congenital malformations and varying degrees of intellectual disability.

2. Deletion syndrome

Deletion syndromes are defined as a group of clinically recognized disorders characterized by a small deletion of a chromosomal segment. The size and position of the deletion determine which clinical features are manifested and how severe they are. Clinical features of deletions may include developmental delays and intellectual disabilities, developmental changes, behavioural problems, feeding difficulties, low muscle tone, seizures, dysmorphic features, and a pattern of various malformations.

3. Sex chromosomal aneuploidy

Sex chromosome aneuploidy is defined as a numerical abnormality of an X or Y chromosome, with the addition or loss of an entire X or Y chromosome. Although most cases of sex chromosome aneuploidy are generally mild without intellectual disability, some have a phenotype well-defined that may include physical abnormalities, learning delays and infertility.

The ISPD (International Society for Prenatal Diagnosis) recognizes that NIPT may be useful as a screening test for women who are at high risk of Trisomy 21 with appropriate genetic counseling. A positive test must be confirmed through invasive testing.

The NSGC (National Society of Genetic Counselors) supports NIPT as an option for patients whose pregnancies are considered to be at an increased risk of certain chromosome abnormalities. Patients whose NIPT results are abnormal, or who have other factors suggestive of a chromosomal abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.

THE BEST METHODOLOGY

Cell-free DNA fragments (cfDNA) are short fragments of DNA that can be found circulating in the blood. During pregnancy, cfDNA fragments of both maternal and fetal origin (cffDNA) are present in the maternal circulation.
The NIFTY™ test requires a small 10ml sample of maternal blood. The cfDNA in the mother’s blood is then analyzed to detect chromosomal abnormalities. If aneuploidy is present, small excesses or deficits in the number of the affected chromosome will be detected.

NIFTY effectively solves the difficulty in measuring small increases in the specific concentration of chromosomal DNA through the use of massively parallel sequencing (MPS) technology. This means that NIFTY sequences millions of fetal and maternal DNA fragments from each sample. Using whole-genome sequencing technology and four different bioinformatics analysis pipelines, the NIFTY test is able to analyze genome-wide data and compare chromosomes in the tested sample against optimal reference chromosomes to accurately determine the presence of genetic abnormalities.

Unlike the “targeted sequence” methods used by some other NIPT tests, the NIFTY methodology allows for highly accurate results regardless of the patient’s clinical symptoms and a wider range of testing options including for trisomy, sex chromosomal aneuploidy and syndromes. deletion.

HOW DOES NIFTY WORK?

Providing the NIFTY test to your patients is safe and simple.

Conduct pre-test genetic counseling with the patient and sign the consent form.
Draw 10 ml of blood from the patient.
If plasma separation is to be performed locally, perform blood and plasma separation (optional).
Package the blood/plasma sample in the NIFTY™ test package.
Send the test package to the NIFTY certified laboratory with our designated courier company under our prepaid account.
Sequencing is performed in the NIFTY™ laboratory.
Receive test results 10 business days later.
Conduct post-test genetic counselling with the patient.

INDICATIONS

To perform the NIFTY test, a pregnant woman must familiarize herself with all the information available regarding non-invasive prenatal tests.

NIFTY is suitable to be performed from the 10th week of pregnancy.