NIFTY test – indications, results and price of the test

Proven content

Tests performed during pregnancy are one of the achievements of modern medicine. Thanks to them, we can be sure that the growing child is developing properly. Sometimes, however, the results of the tests carried out by the doctor are not correct and the child may have health problems. The next step to their diagnosis is prenatal testing, including the NIFTY test. What is it, what diseases does it detect and how much does it cost?

What is the NIFTY test?

The NIFTY test, or Non-invasive Fetal Trisomy Test, is a new form of genetic prenatal testing and, importantly, it is a non-invasive method. With 99 percent. it certainly detects abnormalities in the structure of chromosomes in a child’s DNA that are the cause of genetic defects. So high the effectiveness of the NIFTY test causes that invasive additional tests are performed in increasingly rare cases.

The course of the NIFTY test

The NIFTY test is performed after the 10th week of pregnancy. The NIFTY test isolates the child’s genetic material that is present in the mother’s peripheral blood. Therefore, the subject of the study is a blood sample of about 10 ml, taken from a woman’s ulnar vein. The material is then analyzed using advanced sequencing techniques.

Thanks to the analysis, the child’s DNA is isolated, which in the next step is assessed for the correctness of the chromosome structure. The test result is available after approx. 10 working days.

Indications for the NIFTY test

The main indication for the NIFTY test is the age of the future mother. Nowadays, more and more women are choosing later motherhood. Even 20 years ago, the average age of a Polish woman who gave birth to her first child was 24. Now the newly minted mother is 30 years old. European women decide to have a child later on. The oldest mothers are Spanish, Italian and Swedish.

Since the mother’s age has a huge impact on the development of possible genetic defects of the fetus, specialists believe that every woman over 35, regardless of whether she has given birth in the past or is her first pregnancy, should undergo a NIFTY genetic test.

Other indications for the NIFTY test include:

1. the birth of a child with a genetic defect in the past;
2. having in the family cases of genetic defects (the same applies to the family of the child’s father);
3. the birth of a child in the past with a metabolic disease or a defect of the central nervous system;
4. incorrect result of previously performed pregnancy tests.

The NIFTY test is also recommended for women who have fertilized thanks to the in vitro method, as well as for those who are significantly stressed by the health and life of their unborn child due to, for example, lost previous pregnancies.

Contraindications for the NIFTY test

However, not all expectant mothers can perform the NIFTY test. It is not recommended in the case of pregnancy at least threefold by the mother blood transfusion, had stem cell therapy and had a miscarriage in the 8 weeks preceding the study. The test should also not be performed by women after organ transplants and carriers of chromosomal disorders.

NIFTY test – what diseases does it detect?

You should be aware that the NIFTY test is not intended to diagnose a child’s genetic disease, but rather to determine the risk of its occurrence. The test assesses the risk of trisomy, which is an abnormal structure of the chromosomes in a child’s DNA. With it, you can detect:

1. Chromosome 21 trisomy, more commonly known as Down syndrome. It is the most common genetic disease. It is estimated that among 25-year-olds, 1 in 1250 women will give birth to a child with Down syndrome. Among 35-year-old women, a sick child will give birth to 1 in 350, and among 45-year-olds – 1 in 28 women. Down syndrome is associated not only with the characteristic appearance of the patient. It is also mental disability, decreased muscle tone, heart defects, defects in the gastrointestinal tract, impaired immunity and visual impairment. Currently, the life expectancy of people with Down syndrome is around 50 years.
2. Chromosome 13 trisomy, known as Patau syndrome. It is the rarest occurrence of trisomy – it is diagnosed in 1 in 8-12 thousand. born children. Most often it affects girls, male children usually do not survive childbirth. The defect is associated with a very low birth weight, scalp defects, cleft lip and palate, an undeveloped nose, limb abnormalities, eye defects (including underdevelopment of the second eyeball) and no division of the forebrain. In most cases, babies with Patient syndrome use it for a few days after giving birth. 90 percent patients die before their first birthday, and only 1 percent. lives up to the age of 5.
3. Chromosome 18 trisomy, known as Edwards syndrome. This defect is 4 times more common in girls than in boys. It is estimated that the disease occurs in 1 in 5 people. births. The termination of pregnancy is rare – in 95 percent. Edwards’ syndrome leads to a miscarriage in the first trimester of pregnancy. Most babies born are dead for more than a few weeks. Edwards’ syndrome is characterized by low birth weight and abnormal development of the skeletal and nervous systems. The wide-set eyes and deformed feet are also characteristic.
4. Trisomychromosome 9, 16 and 22, which are associated with numerous abnormalities in the anatomy of the child and the dysfunction of almost all systems necessary for normal life. Most cases are associated with spontaneous abortion, and if it is termed, babies die after a few days.

NIFTY test result incorrect – what next?

Abnormal NIFTY test results should be first consulted with a genetics specialist. To confirm the diagnosis, he will certainly refer us to an invasive prenatal test, such as amniocentesis. However, you should know that invasive prenatal examinations carry a risk of complications in the form of bleeding, puncture of the child’s body, puncture of the fetal bladderand in extreme situations, even to a miscarriage.

Amniocentesis is the practice of puncturing the mother’s abdominal wall by a doctor, after local anesthesia has been administered. Then it punctures the fetal bladder with a long needle and takes several milliliters of amniotic fluid. The sample is then analyzed and the result is compiled.

Incorrect NIFTY and amniocentesis test results give you complete confidence in your baby’s genetic condition. As the news of the disease comes as a shock to parents, early detection gives them time to get used to their child’s disease. Parents can also learn more about the defect and adapt their current life to functioning with a sick child.

You should know that according to Polish law, an incurable disease of a child may be an indication for termination of pregnancy. An abortion is also possible in the event of an irreversible, severe disability and a child’s disease that threatens the mother’s life.

Since the decision to terminate a pregnancy or to report and give birth to a frequently terminally ill child is always very difficult, parents should be provided with psychological care that may help them come to terms with the decision. The most important thing is that it is undertaken by both partners who are aware of their situation.

NIFTY test refund

Unfortunately, the NIFTY test is not reimbursed by the National Health Fund. Therefore, if a woman belongs to the risk group, i.e. over 35 years old, has previously given birth to a child with a genetic defect, or her family or partner’s family has had genetic defects, she should do the test on her own. Its price is about 2,5 thousand. zloty.

Although the cost is not the smallest, it is worth remembering that the test is up to 99% effective. Therefore, if the test result is normal, further diagnosis and invasive prenatal testing will be unnecessary. We will be able to breathe a sigh of relief.