Non Invasive tests for Trisomy 21, 18 & 13 (NIPT | NO SEX DETERMINATION)

Non Invasive tests for Trisomy

DNA Forensics Laboratory Pvt. Ltd. offers simple, safe and highly-accurate NIPT experience to the doctors and their patients for fetal chromosomal abnormalities including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), monosomy X (Turner syndrome) and triploidy.

Advanced bioinformatics whole genome sequencing followed by MPS (Massively Parallel sequencing) technology used in Non Invasive prenatal test (NIPT) requires only a blood sample of pregnant women and can be performed as early as 10 weeks of gestation.

The NIPT test screens a maternal blood sample for chromosome aneuploidy in fetal DNA using the following methodology:

  1. Extraction of cell free fetal DNA from the maternal blood sample
  2. High throughput sequencing of the extracted cell free fetal DNA
  3. Calculation of molecular mass of fetal DNA in all chromosomes

Based on the scope, the NIPT test can detect the following:

  1. Whole Genome – 23 pairs of human chromosomes
  2. Common Chromosomal abnormality: Trisomy 13 (Patau’s Syndrome) Trisomy 18 (Edwards’ Syndrome) Trisomy 21 (Down’s syndrome)
  3. Microdeletions – 20 specific diseases – DiGeorge syndrome, Williams syndrome, Prader-Willi syndrome, Angelman syndrome, Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), Rubinstein-Taybi syndrome, Miller-Dieker syndrome and 13 more..

The test is capable of genome-wide aneuploidy detection over the whole fetal genome (23 pairs of chromosomes) and offers an interpretation of the results for Trisomy 13 Trisomy 18, Trisomy 21, sex chromosomes, and microdeletions. This test confers an accuracy of up to 99.6% on the detection of fetal chromosome aneuploidy.

We prefer making it simple, clear and most accurate for you to know the results. This will surely help you provide precise information to your health care provider and get confident approach to what you plan effectively further on. NIPT is totally secure without any risk to the fetus or the mother, with an accuracy of more than 99.6%. For best results, the test should be performed after 10 week of gestation. Therefore, NIPT is currently the best acceptable test for prenatal diagnosis of fetal Down syndrome to help health professionals or patients to understand the current health scenario.
At DNA Forensics Laboratory Pvt. Ltd. we recommend NIPT be offered to women at increased risk of abnormal fetal chromosomal copy number. It is also recommended that women receive genetic counseling to discuss the information received from this test, as well as the risks and limitations. The company promotes patient education and stimulating patient understanding of and involvement in medical care with the help of our professionals.

NIPT – Early,Simple,Accurate and Risk free test for Down syndrome.

NIPT, which analyzes cell-free fetal DNA circulating in maternal blood, is a new option in the prenatal screening and testing paradigm for trisomies 21,18,13 and all other fetal chromosomal aneuploidies.(NO SEX DETERMINATION)
Our lab Yourgene’s NIPT test provides an analysis of the fetal risk being affected with “Chromosomal Aneuploidies”, by detecting fetal chromosomal materials with the new generation of high-throughput sequencing technology, combined with advanced bioinformatics analysis. This method is non-invasive, carries no risk of causing miscarriage and intrauterine infection and is highly sensitive with accuracy over 99%.

The Science Behind NIPT

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 NIPT 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.
The technology behind the NIPT 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 NIPT are classified as screening tests. This means that they do not test with 100% accuracy, as with an invasive diagnostic procedure such as amniocentesis.

When NIPT is performed?

Testing can be done any time after 10 weeks; typically it is done between 10-24 weeks. Results can take 10 – 12 working days.

Indications for NIPT

NIPT technologies have been validated in singleton and twins pregnancies at high risk for trisomy 21 due to:

  • Advanced maternal age
  • Abnormal Ultrasound findings
  • Suspicious serum markers for Trisomy 21,18,13
  • Personal or family history of aneuploidy.
  • A previous pregnancy with a chromosomal condition
  • Received IVF treatment /Donor egg
  • Still has general concerns about the health of the fetus

Advantages of NIPT

  • Highly accurate : The NIPT test uses the Nex-generation sequencing technology to reach a detection rate of >99.9%.
  • Simple : The NIPT test only requires 10ml of maternal peripheral blood.
  • Risk-free: Testing peripheral maternal blood prevents intrauterine infection and the risk of miscarriage.
  • Early-test: The NIPT test allows testing as early as the tenth week of gestation.

We offers NIPT with analyses of 22 pairs of chromosomal aneuploidies and all sex chromosome aneuploidies and fetal fractions at a reasonable price without compromising quality of the services. We do offer all 20 Microdeletions as optional.