The offered NIFTY PRO Test determines the risk of aneuploidy by detecting the baby’s genetic material called cffDNA circulating in the mother’s peripheral blood. The baby’s DNA is analysed using Next Generation Sequencing (NGS) combined with advanced bioinformatics analyses.
Thanks to the use of the latest scientific advances, this non-invasive examination has no risk of miscarriage or intrauterine infection, and has a very high sensitivity and accuracy of over 99%. The test is designed to determine the risk of chromosome trisomy: 21, 18, 13 performed between 10th and 24th weeks of pregnancy. Trisomies of chromosomes 21, 18, 13 are the most common birth defect syndromes caused by the presence of extra copies of chromosome 21, 18, or 13. On average, 1 in 800 babies are born with Down syndrome (trisomy 21), one in 6,000 babies are born with Edwards syndrome (trisomy 18), and 1 in 10,000 babies are born with Patau syndrome (trisomy 13).
Down syndrome, Trisomy 21 , formerly known as Mongolism – a syndrome of birth defects caused by the presence of an extra 21 chromosome. The eponym is derived from the name of the British physician John Langdon Down, who described it in 1866. In 1959, Jérôme Lejeune discovered that trisomy of chromosome 21 was at the root of the birth defect syndrome. People with Down syndrome have an increased risk of: congenital heart defects, gastroesophageal reflux, recurrent ear infections, sleep apnea syndrome, and thyroid gland disease.
The ultimate development and comfort of a child with Down syndrome can be improved by measures initiated in early childhood, i.e., proper medical care, family acceptance and involvement, and education and vocational training. However, there are some physiological and genetic limitations that cannot be overcome.
Edwards syndrome, Trisomy 18. About 95% of foetuses with trisomy 18 undergo spontaneous abortion. 30% of live-born babies with Edwards syndrome die in the first month of life; only 10% survive 1 year.
The frequency of Edwards syndrome increases with maternal age, as in Down syndrome; Edwards syndrome affects girls four times more often than boys. A baby with Edwards syndrome is much smaller than a normal newborn.
A characteristic feature is widely spaced eyes (hypertelorism), often with a drooping upper eyelid. In the skull, there is a cyst of the choroid plexus, i.e. a reservoir with fluid. In addition, the functions of many systems are impaired, e.g. respiratory and circulatory, heart defects, umbilical and inguinal hernias, and in boys, testicular atrophy are common. The child is generally unable to eat on his or her own and must be fed with a tube or through a gastrostomy tube (a tube that leads directly into the stomach). Children, even if they survive more than a year, are unable to walk on their own, and their cognitive and communication skills are severely limited.
Patau syndrome, Trisomy 13. It occurs in 1 in 8,000-12,000 births. As with Edward syndrome (trisomy of chromosome 18), a direct cause for this condition has not been determined.
However, the risk of having a baby with this syndrome increases with the age of the mother. Often the foetus dies while still in the womb or the baby is still born. If a child is born, then a progressive impairment in its development can be observed.
Children with Patau syndrome usually die in the first few years of life, but there are cases of children reaching adolescence or adulthood. The oldest person affected by the disease lived to the age of 33. Symptoms of the disease are usually evident soon after the baby is born. In children affected by Patau syndrome, the nervous system and the circulatory system are most often damaged. Among the defects in these systems are cardiac dysfunctions in the form of ventricular and/or atrial septal defects and the location of the heart on the right side of the chest instead of on the left. The brain is often not fully divided into the left and right hemispheres. This situation leads to severe neurological disorders in these children. Unfortunately, there is no remedy that, through early testing, by detecting the disease, will prevent it or negate its symptoms. Prevention is impossible.
Who should take the NIFTY PRO test?
- Women who wish to perform a non-invasive test for foetal 21, 18 and 13 trisomy
- Women, over the age of 35, who do not wish to opt for invasive prenatal testing
- Women whose biochemical and ultrasound findings in the first and second trimester of pregnancy suggest a high risk of chromosomal aneuploidy
- Women who have contraindications to invasive prenatal testing, such as placenta previa, high risk of miscarriage, etc.
- Women who have undergone In Vitro Fertilization treatment
Key benefits of the NIFTY PRO test:
- a non-invasive test
- high detection rate
- very low rate of false positives
Contraindications to taking the test:
- Multiple pregnancy (excluding twin pregnancy)
- When the mother is a carrier of chromosomal aneuploidy, chromosomal chimera, microdeletions and chromosomal microduplications
- If the woman has ever undergone stem cell therapy
- If a woman has received a blood transfusion within 12 months before becoming pregnant
- If a woman has undergone an organ transplant
- If the woman has an infectious disease such as HIV, HBV, etc.
Frequently Asked Questions:
- How does the NIFTY PRO test work?
The NIFTY PRO test is a Non-Invasive Prenatal Test for Trisomy. It determines the risk of trisomy by detecting and analysing the genetic material of the child circulating in the mother’s peripheral blood. Foetal DNA (cfDNA) is analysed using next-generation sequencing (NGS) techniques and trisomy risk is determined using patented bioinformatics tools.
- How is the NIFTY PRO test different from biochemical tests done with maternal blood?
Biochemical tests determine the concentration of biochemical markers such as PAPP-A protein or chorionic gonadotropin β-subunit (β-hCG) in the mother’s body rather than the foetus. Changes in the levels of these proteins in pregnant women may indicate a risk of trisomy. Therefore, determining the concentration of biochemical markers provides a fairly accurate estimate of trisomy risk. The NIFTY test involves isolating foetal DNA from the mother’s blood and then analysing that DNA using sequencing techniques.
- Has the test manufacturer published the results of the validation study?
Yes. BGI has published 3 major validation studies. The first is done on a group of women in the high-risk range (age over 35, family history of genetic disease). The study included a population of 3464 women. The latest validation study involves screening a large population-more than 11,000 women. Based on this data, BGI informs patients about the effectiveness of the NIFTY PRO test. A list of publications can be found below.
- Clinical application of massively parallel sequencing based prenatal non-invasive foetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors. (Prenatal Diagnosis, 2012 Nov 9)
- Non-invasive prenatal diagnosis of common foetal chromosomal aneuploidies by maternal plasma DNA sequencing? Journal of Maternal Foetal and Neonatal Medicine, 2012?
- Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing (PLoS ONE, 2012)
- Clinical utility of Non- Invasive Foetal Trisomy (NIFTY) test – Early experience ?The Journal of Maternal- Foetal and Neonatal Medicine?
- Hongyao, et al. (2012) Non-invasive prenatal genetic testing for foetal aneuploidy detects maternal trisomy X. (Prenatal Diagnosis).
- How does the sensitivity of the NIFTY PRO test compare to conventional tests performed in the first and second trimester of pregnancy (integrated nuchal translucency test + beta-HCG and PAPP-A test)?
The integrated test is performed at 11-13 and 15-19 weeks of pregnancy with a detection rate of approximately 80%- 90%. This type of non-invasive test-is completely safe for mother and baby, but has a relatively lower detection rate than the NIFTY test and about 5% false positives. Clinical studies of the NIFTY PRO test show higher sensitivity and specificity (greater than 99%). The NIFTY PRO test is available for women between 12-24 weeks of pregnancy. The NIFTY PRO test has less than 1% false positives.
- How does the sensitivity of NIFTY PRO compare to invasive methods such as amniocentesis, chorionic villus biopsy (CVS), cordocentesis?
The NIFTY PRO test is used as a highly accurate screening test for foetal trisomy. However, it cannot be used to diagnose structural chromosome abnormalities, translocation or chimerism that can be detected by invasive methods. Therefore, the NIFTY PRO test cannot, under any circumstances, replace invasive diagnostics.
- If you get a „high risk” NIFTY PRO result, do you always have to do an invasive test?
- What does a false positive result mean?
A false positive on the NIFTY PRO test is defined as a result given as „high risk of trisomy”, when after invasive testing, the baby is found not to be affected by trisomy. For the NIFTY PRO test, false positive results are less than 1%.
- What does a false negative result mean?
A false negative NIFTY test result is defined as a result given as „low risk of trisomy”, while the baby will be born with trisomy. In more than 80,000 tests performed, BGI has not recorded such a result.
- When is the earliest and latest time to get a NIFTY test?
The NIFTY PRO test can be done by women between 10-24 weeks of pregnancy.
- Can the NIFTY PRO test be performed in parallel with the tests in the first trimester of pregnancy?
Yes, there are no contraindications to this.
- What if the NIFTY PRO test results conflict with the PAPPA or βhCG test results?
The NIFTY test has a detection rate of over 99% and a false positive rate of 1%. In the future, the NIFTY PRO test could replace the PAPPA and βhCG tests for trisomy diagnosis. In case of conflicting results, we recommend considering the results of the NIFTY PRO test because of its higher accuracy and reliability.
- How is blood collected for the test?
Approximately 10 ml of venous blood is drawn. The procedure is analogous to drawing blood for a blood count test.
- Why is the NIFTY PRO test result reported as a trisomy risk (percentage) and not as a YES or NO answer?
The NIFTY PRO test, like the PAPPA or βhCG test, is a screening test for trisomy risk and is not a definitive clinical diagnosis. The PAPPA or βhCG test has a much lower detection rate and a higher rate of false positives. This means that only 1 in 20 cases with a positive PAPPA or βhCG test will be confirmed by invasive diagnosis. The remaining false positives not only create anxiety for expectant mothers about the need for invasive testing, but also avoid about 1-2% of miscarriages due to complications associated with invasive diagnostics. Thus, the NIFTY PRO test, which has a high detection rate (greater than 99%) and low false-positive rate (less than 1%), will not only ease a pregnant woman’s anxiety about having to undergo an unnecessary invasive procedure, but can greatly help patients who have contraindications to invasive prenatal testing.
- Can a NIFTY PRO test result indicating a high risk of trisomy be used as a basis for termination of pregnancy?
No. A NIFTY PRO test result is not an indication for termination of pregnancy. In the case of a „positive” result, additional invasive testing should be performed to make a definitive clinical diagnosis.
- Is the NIFTY PRO test only for women in a certain age range or ethnicity?
The NIFTY PRO test is for pregnant women of all ages and ethnicities.
- Where is the NIFTY PRO test performed?
NIFTY PRO test is performed throughout Poland, in Wroclaw you can perform it, among others at the Medfemina Health Centre. Special, expensive devices called Sequencers are needed to perform the test.
Blood samples collected from patients are transported to a laboratory in Hong Kong.