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NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST

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Product Description

We dont determine sex - This test is not for sex determination. Its only used to identify certain genetic abnormalities

Non-Invasive Fetal TrisomY test is a safe, simple, non-invasive prenatal test (an NIPT Test), which offers screening for certain genetic conditions from as early as week 10 of pregnancy.

Using the latest genetic sequencing technology, Non-Invasive Fetal TrisomY test or non-invasive prenatal test (an NIPT Test) has over >99% accuracy for the three most common trisomy conditions present at birth, which are Down Syndrome, Edwards Syndrome and Patau Syndrome.

Introduction to NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST

NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST consists of a small maternal blood draw and is available from as early as week 10 of pregnancy. Results are available within 10 working days.
NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST offers higher rates of accuracy than traditional screening tests and, unlike invasive procedures such as amniocentesis, poses no miscarriage risk to the mother or baby.

The Advantages Of The NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST Test

Safe
Non-invasive with no risk of miscarriage
Simple.
Test from a small 10 ml maternal blood sample as early as week 10 of pregnancy
Accurate.
>99% sensitivity for detection of trisomy conditions such as Down syndrome.
Trusted.
Over 400,000 tests conducted worldwide with a false positive rate of just 0.1%.

The Science Behind NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST

Cell-free DNA fragments (cfDNA) are short fragments of DNA, which can be found circulating in the blood. During pregnancy, cfDNA fragments originating from both the mother and fetus are present in the maternal blood circulation.
The NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test requires taking a small maternal blood sample. cfDNA in the maternal blood is then analysed with our proprietary genetic sequencing technology and bioinformatics pipelines to screen for any chromosomal abnormality in the fetus. If any abnormality is present, small excesses or deficits in counts of the affected  chromosome can be detected.
NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST effectively resolves the difficulty in measuring the small increments in the specific chromosome DNA concentration through use of massively parallel sequencing technology (MPS). This means NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST sequences millions of fragments of both fetal and maternal DNA from each sample. Using whole genome sequencing technology and four different proprietary bioinformatics analysis pipelines, the NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test is able to analyse data across the entire genome and compare chromosomes in the tested sample against optimal reference chromosomes to accurately determine the presence of genetic abnormality.
As opposed to the ‘targeted sequencing’ methods employed by some other NIPT tests, the NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST methodology allows for highly accurate results irrespective of the clinical symptoms of the patient, and a broader range of testing options including for trisomy, chromosomal aneuploidy and deletion syndromes.
The technology behind the NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test allows for highly accurate results with detection rates for the three most common  trisomy  conditions present at birth (Down Syndrome, Edwards Syndrome and Patau Syndrome) of over 99.5%. But it’s important to understand that non-invasive prenatal tests such as NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST are classified as screening tests. This means that they do not test with 100% accuracy, as with an invasive diagnostic procedure such as amniocentesis.

What does NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST screen for?

NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST screens for the three most common  trisomy  conditions present at birth which are Down Syndrome, Edwards Syndrome and Patau Syndrome. Independent validation studies, including the world’s largest study on the use of NIPT in clinical practice in nearly 147,000 women, have shown NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST has an accuracy rate of over 99% for detection of these conditions.
NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST also offers optional testing for other genetic conditions such as deletion syndromes and chromosome aneuploidies. If you choose to know, NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST can also provide gender information.
Remember, it’s always important to consult a qualified healthcare professional before taking any genetic test to make sure you fully understand the conditions being tested for.

Trisomies

Chromosome Aneuploidies

Deletion Syndromes

Down Syndrome

Turner Syndrome

Cri-du-chat Syndrome

Edwards Syndrome

Klinefelter Syndrome

1p36

Patau Syndrome

Karyotype XYY

2q33.1

Testing services for trisomy conditions are available for twin pregnancies, egg donor pregnancies and IVF pregnancies. 
Independent validation studies references:
1) Dan S. et al, ‘Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.’ Prenat. Diagn., 32: 1225–1232. doi: 10.1002/pd.4002
2) Double Blinded Validation Study on 3,464 NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST Blood Samples
3) Non-Invasive Prenatal Testing for Trisomy 21, 18 and 13 – Clinical Experience from 146,958 Pregnancies: Published in the Journal of Ultrasound in Obstetrics and Gynecology

Why get a NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test?

Available from week 10 of pregnancy, the NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test gives you an early option to know more about the genetic health of your baby.
Compared to traditional screening tests, the NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test offers higher accuracy and lower false positive rates. This means that less women will undergo invasive diagnostic procedures such as amniocentesis or chorionic villus sampling which carry a 1-2% risk of miscarriage.
NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST is non-invasive and therefore poses no risk to the mother or baby.

Is the NIFTY Test Right for Me?

The NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test is available to any pregnant woman from the 10th week of pregnancy but is particularly suitable for pregnant women who exhibit certain indications which are highlighted below.
Remember, non-invasive prenatal testing may or may not be right for you. Prior to undertaking any non-invasive prenatal testing, you should consult a qualified healthcare professional regarding any risks, diagnoses, treatment and/or any other potentially relevant healthcare issues.

The NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test is suitable if you exhibit 
any of the following indications:

Maternal age 35 years or
older at delivery
Contraindications for invasive prenatal testing, such as placenta prevaria, risk of miscarriage or HBV infection
Fetal ultrasonographic findings indicating an increased risk of aneuploidy
History of a prior pregnancy with a trisomy
Require reassurance following previous screening result
Parental balanced robertsonian translocation with increased risk of fetal trisomy 13 or trisomy 21
Received IVF Treatment or have previosuly suffered from habitual abortion
NSGC (National Society of Genetic Counselors)
The  NSGC  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 chromosome abnormality, should receive genetic counselling and be given the option of standard confirmatory diagnostic testing.

Maternal Age-Specific Risk Calculator for Down Syndrome

The risk of having a term pregnancy with Down Syndrome increases with maternal age and is known as the maternal age-specific risk.
This application allows you to enter in your maternal age at term and view your maternal age-specific risk for Down Syndrome.
A  trisomy  is a term for a genetic condition in which there are three chromosomes instead of the usual pair.

Trisomy 21 / Down Syndrome:

Trisomy 21, more commonly known as Down Syndrome, is a condition caused by an extra copy of chromosome 21. Unfortunately, miscarriage occurs in about 30% of pregnancies with Down Syndrome. Those children born with Down Syndrome will need extra medical care depending on the child’s specific health problems. Most children with Down Syndrome have intellectual disabilities that range from mild to moderate. Early intervention has proven to be essential in enabling individuals with Down Syndrome to lead healthy and productive lives. For more information or support, please see our resources page.

Trisomy 18 / Edwards Syndrome:

Trisomy 18, or Edwards Syndrome, is caused when a baby has three copies of chromosome 18, instead of two. Unfortunately, pregnancies with Edwards Syndrome are at high risk of miscarriage and most babies born with Edwards Syndrome die within the first few weeks of life while less than 10% live beyond one year. Infants with Edwards Syndrome have severe intellectual disabilities and birth defects typically involving the heart, brain, and kidneys, and external abnormalities such as cleft lip/palate, small head, club feet, underdeveloped digits, and small jaw.

Trisomy 13 / Patau Syndrome:

Trisomy 13, or Patau Syndrome, is caused when a baby has three copies of chromosome 13, instead of two. Unfortunately, pregnancies diagnosed with Patau Syndrome are at high risk for miscarriage or stillbirth, and most babies born with Patau Syndrome will not survive beyond the first weeks of life. Babies with Patau Syndrome may have heart defects, brain or spinal cord problems, extra fingers and/or toes, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), and weak muscle tone. Many babies have birth defects of other organs as well.
Deletion syndromes are defined as a group of clinically recognisable disorders characterised 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.

5p / Cri-du-Chat:

Also known as 5P deletion sydnrome, babies typically exhibit small head size, low birth weight, decreased muscle tone. and have moderate to severe intellectual disability. Feeding and/or breathing difficulties are also common.

1p36:

Babies born with 1p36 deletion syndrome typically have weak muscle tone, heart and other organ defects. Most will display developmental problems and varying degrees of intellectual disability.

2q33.1:

Babies born with 2q33.1 will typically experience delayed growth and exhibit behavioural developmental problems. Severe feeding difficulties are common and the incidence of cleft palate is also high.

NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST Workflow

Providing the NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test to your patients is safe and simple.

  1. Conduct pre-test genetic counseling with patient and sign consent form.
  2. Carry out 10 ml blood draw from patient.
  3. If plasma separation will be carried out locally, conduct blood and plasma separation (not mandatory).
  4. Pack blood/plasma sample in NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test package.
  5. Send test package to NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST certified laboratory with our assigned courier company under our prepaid account.
  6. Sequencing takes place at NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST laboratory.
  7. Receive test results 10 working days later.
  8. Conduct post-test genetic counseling with patient.

If you are not already a NON-INVASIVE PRENATAL TEST (NIPT TEST) OR NON-INVASIVE FETAL TRISOMY TEST test provider please visit the New Providers section under the Order a test menu title. Alternatively, contact us via email or telephone for more details.

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