NIFTY – A Non-Invasive Fetal Trisomy Test

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This is an article from our “Doctor’s Corner” series, brought to you by Samitivej Hospital. Make sure to read the entire series!

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At conception twenty-three chromosomes are passed from each parent to the embryo. The correct number of chromosomes that cells/embryos should have is 46. However, there is a statistical chance that one chromosome will be missing or that one extra chromosome is present. When this happens it is termed fetal aneuploidy. Depending on the chromosomal abnormality fetal loss, developmental and speech delays, growth delays, and sexual characteristics may fail to develop. Down syndrome is an example where an extra copy of chromosome 21 is present.

NIFTY Test

Women, such as those with a family history of fetal abnormalities and those over the age of 35 years, have a higher statistical risk of fetal aneuploidy (as high as 1 in 160 births). Although certain groups of women are at a higher risk, all women should have access to screening for fetal chromosomal abnormalities.

Conventional screening methods have used both ultrasound and serum markers (with a blood sample taken from the mother) to determine the presence of fetal abnormalities. However, depending on which combination of screening methods is used a five to 35 percent chance of missing a diagnosis and a five percent chance of a false positive result exists. Women who test positive are then offered amniocentesis or chorionic villus sampling to confirm the diagnosis. Both amniocentesis and chorionic villus sampling are considered invasive tests carrying a 0.5 percent risk of fetal loss.

What is the NIFTY Test?

The Non-Invasive Fetal Trisomy (NIFTY) test is a relatively new and advanced screening tool. It uses a 6 ml sample of blood from the mother and analyses the fetal free cell DNA. In addition to screening for Down syndrome the NIFTY test also screens for Edward syndrome (chromosome 18), Patau syndrome (chromosome 13). However, the NIFTY test is not used to detect fetal sex.

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The benefits of the NIFTY test include a much higher detection rate (> 99% for autosomal abnormalities such as Down syndrome) and a much lower false positive rate (< 1%). With a much lower false positive rate women can avoid the need for confirmatory invasive testing, such as amniocentesis and chorionic villus sampling, and their corresponding risk of fetal loss.

The blood sample can be collected any time after 12 weeks gestation as opposed to conventional screening methods that necessitate multiple ultrasounds and blood samples taken at specific weeks of gestation. Furthermore, results are available sooner with most women informed of their test results within three weeks time.

In comparison to conventional methods the NIFTY test is more reliable, simple to do, safe for the mother and fetus, and the results are delivered in a timely manner. Thereby, providing parents with peace of mind or allowing for prompt access to genetic counseling sooner than what was previously possible.

If you pregnant consider asking your health care provider if the NIFTY test is available. Samitivej Hospital has the technical capacity to carry out the NIFTY test and Samitivej Hospitals’ treating physicians would welcome any questions that you have regarding pregnancy and fetal abnormality screening.

Samitivej, We Care!

Boonsaeng Wutthiphan, M.D.
Infertility & Gynecologic Laparoscopic and Hysteroscopic Surgery Specialist
Samitivej Sukhumvit Hospital

For further information, please contact:

Child Health Institute
Samitivej Sukhumvit Hospital
2st Floor, Building 2
Tel: 66 (0) 2711-8236-7
Call Center: 66 (0) 2711-8181
E-mail: info@samitivej.co.th
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12 Comments

  1. SJ  /  April 26, 2013, 1:20 pm Reply

    Hello, I just want to clarify something as I am very interested in this -

    So the results of a NIFTY are the same (or better?) accuracy as an amniocentisis? I had an amnio last year and it apparently had a 99% accuracy.

    Is there any advantage to an Amnio versus NIFTY, ie things Amnio tests extra or is more accurate for?

    Also how long does it take to get the results of the NIFTY after the blood draw? (Is it just a standard blood draw like giving blood for standard testing?)

    And what is the cost in THB

    Many thanks

    • ExpectingExpats.com  /  April 27, 2013, 8:27 pm Reply

      Hi again SJ,

      Please take note of this response from Samitivej Hospital:

      The NIFTY test allows mothers to take a simple blood test for prenatal diagnosis of fetal Down’s Syndrome. This test uses “DNA Sequencing” to detect if there is extra genetic material from chromosome 21. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21, which causes distinctive facial features, physical characteristics and cognitive impairments seen in people with Down’s syndrome.

      The NIFTY test was offered as a screening test with an accuracy rate of 99%. Even though the NIFTY test is a highly effective screening test, it is not used for making a diagnosis. If the test result is positive, an amniocentesis is recommended to confirm the result.

      An amniocentesis is carried out from 16th week until 17th week of the pregnancy. In addition, an amniocentesis is an invasive test involving some risk for both the mother and the fetus. However, the risks are quite low.
      An amniocentesis can  primarily test for a large number of birth defects caused by an irregular number of chromosomes (with Down’s syndrome being the most common).

      Nevertheless, the NIFTY test does not check for all the rare genetic defects that are tested for in an amniocentesis and the NIFTY test cannot be used to determine fetal sex. However, the NIFTY test is noninvasive, is no risk to the mother or the fetus and is carried out from the 12th week until 24th week. In general, results are received within 3 weeks from the date the blood sample is drawn and the test will use only 5 cc of mother’s blood sample.

      Boonsaeng Wutthiphan M.D.
      OB/GYN, WOMEN – GYNECOLOGY

  2. ExpectingExpats.com  /  April 26, 2013, 1:36 pm Reply

    Thank you for your questions.

    Please stand by for an answer. We are checking with our doctor!

  3. Penny Watson  /  June 6, 2013, 3:54 pm Reply

    I am a Hong Kong expat. I had a NIFTY test eight weeks ago at 14 weeks. The result was a high risk of Trisomy 18 or Edwards Syndrome, which is “worse than Downs Syndrome” according to my doctor. He told me that in the two years he has been carrying out the NIFTY test in Hong Kong, it has never been wrong but that there was “still a chance”. Much of the research my husband and i did online backed this up.

    I had an amnio test and thankfully didn’t miscarry. Then we waited two and half excruciating weeks (with my baby happily growing and kicking inside me) to see if my result would somewhat miraculously fall into the “less than one per cent – and probably more” margin of error for this test. Obviously, with the odds so against us, we had to contemplate the future of the pregnancy and all the trauma associated with the decisions we might need to make. We did this without any support from the professionals who knew our predicament. When my doctor finally called he was very economical with his words “your baby is normal… No need to worry”.

    While i can see how helpful this test is when mothers receive a negative result, the mental and emotional repercussions of a false positive result, and obviously a positive result, are extraordinary. The decisions you think you would make are never so clearcut when you are in the position of having to make them. What’s more, the Hong Kong medical profession, and both my ob/gyno’s were as empathetic as pot plants during the six weeks it took to get our final result.

    The NIFTY test is not failsafe. Congratulations if you get a negative result and good luck with the birth. If you get a positive result, hang in there, my NIFTY test was false, yours could be too.

    • joy  /  December 4, 2013, 8:15 am Reply

      Penny, I live in Hong kong too, is there any way we can have a chance to meet. I am so glad you went with your gut instead of what you were told by ‘professionals’ my name is joy.suhchoi and i use google mail. thanks!!

    • Dragana  /  July 20, 2014, 8:46 pm Reply

      Dear Penny,I read your experience with nifty test.I am sorry you had to go through it,but luckily everything ok at the end.I also had nifty and my results were ok.Now I am confused weather I should double check with amnio.Do you know any case where nifty was wrong the oposite way:wrong good result? Thank you Dragana

  4. Rahul  /  July 2, 2013, 12:44 am Reply

    Hi……I am from India. My wife is 18 weeks pregnant and we want to get the NIFTY test done. I need to know the cost of this test. can someone urgently revert to us.

    Thanks
    Rahul.

    • ExpectingExpats.com
      ExpectingExpats.com  /  July 2, 2013, 5:35 am Reply

      Hello, and thank you for your question. We have forwarded your question to Samitivej Hospital and requested a quick reply. We will send you their reply as soon as it is received.

    • ExpectingExpats.com
      ExpectingExpats.com  /  July 2, 2013, 4:25 pm Reply

      Hi again Rahul. We have received a reply from Samitivej Hospital with the information you requested. If you have any more questions, feel free to ask here, or you can use the “Ask the Doctor” feature available on the right side of this page. Thank you again for your question. The Expecting Expats Team.
      ————————————-
      Dear Mr. Rahul,
      Greetings from Samitivej Sukhumvit Hospital.

      In reference to your inquiry, the estimated cost for NIFTY – Non-Invasive Fetal Trisomy Test is about 28,000 THB excluding doctor fee and other hospital charges. The blood sample can be collected any time after 12 weeks gestation as opposed to conventional screening methods that necessitate multiple ultrasounds and blood samples taken at specific weeks of gestation. Furthermore, results are available sooner with most women informed of their test results within three weeks time.

      To make appointment, kindly provide us the following personal information for pre-registration purposes.
      • Full Name of the Patient (Ms/Mrs/Mr)
      • Date of Birth (dd/mm/year)
      • Nationality
      • Address in Thailand
      • Contact number
      • Preferred date and time of appointment

      After all identifications have been confirmed, we will proceed to schedule your appointment promptly.

      Should you require further assistance, please do not hesitate to contact us.

      IMPORTANT NOTE:

      * Estimated cost: We wish to inform you that the cost quoted is a rough estimation for planning purposes only. An actual estimate for the operation / treatment cannot be accurately provided until the patient has been thoroughly examined by our specialist. The cost ranges provided are based upon our best understanding of the patient’s condition at the time of contact and do not represent a minimum or maximum potential cost. They are based on the assumption that the patient has no other underlying diseases or serious risk factors involved that might create additional charges.

      * Prices are subject to change without prior notice.

      Best regards,

      Ms. Joan Sumcad
      E-mail Correspondent
      Samitivej Sukhumvit Hospital
      Samitivej Srinakarin Hospital

      http://www.samitivejhospitals.com
      A world Class Group of Hospitals Accredited by International Standard of JCI

    • yogesh shah  /  April 15, 2014, 5:11 pm Reply

      hello,
      My wife 37yrs is 13weeks pregnant and wants to get NIFTY test done. Please revert:

      1. What is cost and when will the results be available?
      2. is this test same effective as amniocentesis ?
      3. can it be done in mumbai?
      4. Can we get complete DNA profile of the unborn child including chromosome 13,18,21, X and Y by doing this test?

      • ExpectingExpats.com  /  April 22, 2014, 11:48 am Reply

        Hello, and thanks for your question. Here are answers supplied by Bongkoch Naraphut, M.D., OB/GYN – Maternal Fetal Medicine at Samitivej Hospital.

        What is cost and when will the results be available?
        The estimated cost for NIFTY is about 28,000 THB excluding doctor fee, outpatient service fee and ultrasound fee. The blood sample can be collected any time after 12-15 weeks gestation as opposed to conventional screening methods that necessitate multiple ultrasounds and blood samples taken at specific weeks of gestation. Furthermore, results are available within three weeks.

        Is this test same effective as amniocentesis?
        The NIFTY test was offered as a screening test with an accuracy rate of 99%. Even though the NIFTY test is a highly effective screening test, it is not used for making a diagnosis. If the test result is positive, an amniocentesis is recommended to confirm the result.

        Can it be done in mumbai?
        NIFTY test is available in major hospitals in USA, Hongkong, United Kingdom and Thailand. We not quite sure about Mumbai. You may need to check with a major hospital there.

        Can we get complete DNA profile of the unborn child including chromosome 13,18,21, X and Y by doing this test?
        Based on the peripheral blood of the mother, BGI’s NIFTY test provides an estimate of the risk of a pregnancy carrying fetal chromosomal aneuploidies, which allows for early preparation and intervention. This test also allows us to see any high risk possibility of fetal trisomies of 18, 13, 21 and Monosomy X for Turner syndrome. However, we cannot get a complete DNA from this test.

        Bongkoch Naraphut, M.D.
        OB/GYN – Maternal Fetal Medicine

  5. mcnellis  /  September 21, 2014, 8:51 pm Reply

    Thanks for this, well written and great view point

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