Paternity For Life

Prenatal Genetic Chromosomal Abnormality Screening - NIFTYTM

What is NIFTYTM?

NIFTYTM is a highly accurate, Non-Invasive Prenatal Screening (NIPS) test for detecting genetic abnormalities including Trisomies, Deletion Syndromes and Sex Chromosome Aneuploidies.

NIFTYTM uses a blood sample from the pregnant mother to analyse the fetal DNA for chromosomal conditions, such as Down Syndrome (Trisomy 21) and Edwards Syndrome (Trisomy 18), from as early as 10 weeks of pregnancy. Gender determination is also available at no additional cost.

How does NIFTYTM work?

NIFTY Paternity For LifeCell-free DNA fragments (cfDNA) are short fragments of DNA which can be found circulating in the blood. During pregnancy, cfDNA fragments from both the mother and fetus are present in the maternal blood. The NIFTYTM test requires taking a blood sample from the mother, which is then analysed to detect chromosomal abnormalities in the fetus. Please note that a qualified person is required to collect the sample via a standard medical blood draw.

Our laboratory uses whole genome sequencing to analyse the fetal DNA. The entire genome is sequenced and compared against optimal reference chromosomes to accurately determine the presence of genetic abnormalities. Using this methodology, the NIFTYTM test is able to produce highly accurate results and screen for a broader range of abnormalities, including trisomy, sex chromosomal aneuploidy and deletion/duplication syndromes.

Why Should I Choose Non-Invasive Prenatal Screening?

Many prenatal screening options already exist. However, compared to NIFTYTM, traditional screening methods have lower accuracy and higher false positive rates (as shown in the images below).

A false positive is where you receive a positive result for a test, when you should have received a negative result. NIFTYTM has a false positive rate of 0.05% only, which is much lower than other screening methods.

Invasive diagnostic tests, such as amniocentesis or chorionic villus sampling (CVS) are accurate but also carry a 1 – 2% risk of miscarriage. NIFTYTM is considered 100% safe for both the mother and unborn baby, as all that is required for testing is a 10ml maternal blood sample.

NIFTYTM is the most validated prenatal screening test on the market. NIFTYTM has a sensitivity greater than 99% from a study of nearly 147,000 pregnancies, and to date over 3 million tests have been carried out worldwide. You can read all the NIFTY® test’s published clinical data at www.niftytest.com/healthcare-providers/clinical-data/

What Genetic Conditions are Screened for by NIFTYTM?

Trisomies
  • These conditions are caused by the presence of an extra copy or partial copy of a chromosome, instead of the usual pair. This additional genetic material can cause dysmorphic features, congenital malformation and different degrees of intellectual disability.
Sex Chromosomal Aneuploidies
  • Sex chromosome aneuploidy is a numeric 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 aneuploidies are generally mild without intellectual disability, some have a well-established phenotype that can include physical abnormalities, learning delays and infertility.
Deletion and Duplication Syndromes
  • Deletion and duplication syndromes are disorders characterised by small deletions or duplications of a chromosomal segment. The size and position of the deletion or duplication determine which clinical features are manifested and how severe they are. Clinical features may include developmental delays and intellectual disability, growth differences, behavioural problems, feeding difficulties, low muscle tone, seizures, dysmorphic features and a pattern of varying malformations.

For twin pregnancies Trisomy 21, Trisomy 18 and Trisomy 13 risk assessment results are available from the 12th week of gestation. Please note that some additional analysis may not be available. If you are carrying twins, and are interested in this test, please contact us for more information.

NIFTYTM Plus
Gender Identification
  • Male/Female
Trisomies
  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Trisomy 13 (Patau Syndrome)
  • Trisomy 9
  • Trisomy 16
  • Trisomy 22
Sex Chromosome Aneuploidies
  • Turner Syndrome (Monosomy X)
  • XXX (Triple-X)
  • XXY (Klinefelter syndrome)
  • XYY Karyotype
Deletion Syndromes
  • Cri-du-Chat Syndrome (5p)
  • 1p36 Deletion Syndrome
  • 2p33.1 Deletion Syndrome
  • Prader-Willi/Angelman Syndrome (15q11.2)
  • DiDeorge Syndrome || (10p 14-p13)
  • Jacobsen Syndrome (11q23)
  • 16p12
  • Van der Woude Syndrome (1q32.2)

Results

Results will be sent to your referring doctor within 15 working days, from receipt of your sample at our laboratory. Results may sometimes be delayed due to incorrect specimen handling or laboratory processes requiring repeat testing to ensure accurate results. If this is the case, we will endeavour to notify you as soon as possible.

Please note: Delayed results are not indicative of abnormal results.

How do I Organise Testing?

  1. Head to our simple, easy-to-use order page to order your test
  2. Paternity For Life will send you a testing kit for collection of your blood sample.
  3. Have your blood collected by a qualified medical professional, then return to the sample to us
  4. Your report will be issued to your health care provider in 15 working days, from the day we receive your sample for testing.

Due to the nature of the test, a doctor’s referral is required. We recommend that you book an appointment with your doctor to discuss the testing and have our request form signed before proceeding with testing.

Your blood sample will need to be collected by a trained professional such as a doctor, nurse or phlebotomist. Please note, there may be a fee charged for collection. This fee is not included in the cost of testing and must be paid directly to your sample collector. If you are having trouble finding a sample collector, please contact us and we can help you find a collector in your area.

If you would like more information regarding this test, please contact us or see our NIFTYTM Brochure.

Important Notes

Please note that NIFTYTM is a screening test, and not a diagnostic test. A screening test indicates the risk of having a condition, and while they may be highly accurate, do not test with 100% accuracy. NIFTYTM is a screening test, so while it has a very high level of accuracy at 99.5% for detection of Down Syndrome (T21), Edwards Syndrome (T18) and Patau Syndrome (T13), it is not a diagnostic test and it does not screen for all chromosomal conditions. Please also note that this test cannot replace diagnostic tests such as Amniocentesis and Chorionic villus sampling, but it can help expectant mothers avoid the need to undergo these invasive tests. If the test result returns as high risk, further confirmatory diagnostic testing should be performed for final diagnosis by a qualified healthcare professional.

NIFTYTM is NOT suitable for patients with the following indications:

  • Maternal, fetal and/or placental mosaicism (mixtures of chromosomally normal and abnormal cells in the pregnancy)
  • Mother or Father have chromosomal abnormalities (translocation or inversion)
  • Patients who have received a blood transfusion within one year prior to testing date
  • Patients who have had transplant surgery
  • Patients who have had stem cell therapy
  • Vanishing twin syndrome (with developmental arrest identified as having occurred after week 8 of pregnancy and/or within 8 weeks of NIFTY® testing)

In some situations, a sample may produce no result. Reasons for NIL results:

  • The test will not produce any result in approximately 2% of patients. This is more commonly seen in obese patients (>110 kg), older patients and twin pregnancies.
  • Repeating the test may provide a result in up to 50% of cases, but repeat test failure is common in these patients.
  • A NIL result may be associated with an increased risk a fetal aneuploidy, and an alternative screening test or diagnostic test is recommended for all patients with NIL results.

No refund will be provided in the case of a NIL result.

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