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PreNatSure | NIPS

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What is Non-Invasive Prenatal -PreNatSure | NIPS Screening Test?

The PreNatSure | NIPS Screening test is simple non-invasive blood test that screens for the most common chromosomal abnormalities that can affect your baby's future health. Sample can be drawn at your PCPNDT approved doctor's clinic as early as the 10th  week of pregnancy. It may help you avoid more invasive procedures, such as amniocentesis or chorionic villus sampling (CVS), which can pose risks to you and your baby. Medical societies agree that alI pregnant women should be offered prenatal screening for fetal abnormalities and that NIPS is a major advance in screening methodologies.

Why should I choose PreNatSure | NIPS Screening  test over other tests?

  • Early Screening: PreNatSure | NIPS Screening Test can be carried between early gestational age of 10th week and allow sufficient time  for further conformational investigation.
  • Advanced Technology: ECGI is the only company in India using proprietary lllumina NIPS Technology and approved Veriseq NIPT analysis software.
  • Confident Quality Assessment: Analysis Software includes built-in QA of each sample to ensure the accuracy of generated results. Data input for each sample is assessed for DNA library yield, sequencing data quality and quantity consistency & quality of NCV calculations. Batch-level quality and consistency  are also monitored.
  • Clear &Reliable ResuIts: NCV scores from NIPS Analysis Software is used to aid in the detection and differentiation of euploid and aneuploid samples. The scores reflect normaIized coverage of the test chromosome.
  • Low Risk: Only 1 tube of 10 ml  blood is required  in PreNatSure | NIPS Test Streck tube.
  • Highly Effective: Can detect Aneuploidy even at Fetal Fraction (cfDNA) as low as 4-2.7%
  • High Accuracy: Massive Parallel Sequencing of cfDNA to  generate  20   million  reads  per samples.
  • Less Error: False positive and False  negative  rate as low as  2%
  • High Sensitivity: Sensitivity 99.9% &  Specificity 99.7%.
  • Test for All Parents- to- be: Optimized to handle consanguineous couple, with egg donors, IVF and twin pregnancies.
  • Low TAT : Result in 7 working days after  receiving the sample@  ECGI laboratory  facility, Bangalore

Is the PreNatSure | NIPS Screening Test right for me?

The PreNatSure | NIPS Screening Test offers parents-to-be a new choice to obtain important information about the health of their developing baby and in the first trimester as per PCPNDT Act, 1994, with little or no risk to their pregnancy. This screening test is usually offered to pregnant women identified by their doctor to be at risk for fetal aneuploidy, which includes:

  • Advanced maternal age 35+ years
  • Your serum screening and ultrasound reports are indicating abnormality with fetal growth &/ development
  • Previous history of pregnancy lost
  • You have a personal or family history suggestive of Trisomies 21, 18, 13
  • If you were exposed to any toxic chemical

How does the PreNatSure | NIPS Screening  Test work?

A sample of an expecting mother blood is drawn, and the cfDNA is extracted to analyze millions of DNA fragments per sample and mapped on chromosomes. It then uses a special SAFeR™ calculation method to determine  if  there   are  additional   copies   of these chromosomes in your baby.

 

 

What kind of conditions can the PreNatSure | NIPS Screening Test detect?

Presence of abnormal chromosome number called aneuploidy is often associated with mental or physical disabilities with different levels of severity. With PreNatSure | NIPS  Test, we are able to screen additional copies of chromosomes especially in case of Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome), and SCA  (Turner Syndrome, Triple X Syndrome, Klinefelter syndrome, Jacobs syndrome).

                                                                 

What do my PreNatSure | NIPS Screening Test results mean?

Your results will tell your physician whether trisomies 21, 18 or 13 and SCA (Turner Syndrome, Triple X Syndrome, Klinefelter syndrome, Jacobs syndrome) are highly likely to be present in your pregnancy. In the case of a positive result, your healthcare provider will discuss your results as well as further testing options to consider. It is recommended that no irreversible clinical decisions be made based on these screening results alone. If a definitive diagnosis is desired, chorionic-villi sampling (CVS) or amniocentesis should be considered.

Do normal PreNatSure | NIPS Screening Test results mean that my baby will be perfectly healthy?

The PreNatSure | NIPS Screening Test is a highly accurate non-invasive advanced screening test. No test, however, can guarantee a baby will not have any medical issues. The PreNatSure | NIPS Screening test addresses aneuploidies of chromosomes 21, 18, 13 and SCA (Turner Syndrome, Triple X Syndrome, Klinefelter syndrome, Jacobs syndrome) . It does not test for or report all genetic and non-genetic problems that may be present in a baby. If the test result is ''No Aneuploidy Detected'', indicating a negative result, it does not completely rule out all potential problems with chromosomes 21, 18, and 13, and SCA  (Turner Syndrome, Triple X Syndrome, Klinefelter syndrome, Jacobs syndrome) in your baby.

Genetic counseling before and after testing is recommended. Results of ''Aneuploidy Detected'' or ''Aneuploidy Suspected'' are considered positive, and women who receive such results should be offered invasive prenataI diagnostics procedures for confirmation. A negative test does not ensure an unaffected pregnancy. CVS and amniocentesis provide definitive diagnostic information, but their invasive nature is a potential concern.

What is Test Failure/False Positive?

Test failure in NIPS is associated with no chromosomal call status. NIPS failure rates vary significantly based on the type of technology used. Using Massive Parallel Sequencing of cfDNA,  the  PreNatSure | NIPS Screening Test  achieves the  lowest test  failure rate among various NIPS test. The experience  of  using NIPS in clinical practice confirms that abnormal results   cannot  be considered diagnostic. Pre-test counseling should emphasize this. Diagnostic genetic testing should always be offered following abnormal NIPS result.

Possible causes of false positive and false negative results from NIPS include:

  • Confined placental mosaicism (CPM)
  • Maternal mosaicism
  • Statistical false positive result
  • Co-twin demise
  • Fetoplacental mosaicism

What are my current testing options?

There are number of traditional genetic tests available for expectant women to predict their fetus genetic condition, such as, Karyotyping, amniocentesis, chorionic-villi sampling (CVS) etc. These tests provide the results in a form of ''risk score'' (such as 1 in 500 or 1 in 50) based on which the physician or the genetic counselor will calculate the chances of developing a fetus with an abnormal genetic condition. However, all these various genetic diagnostic tests are invasive and having relatively high rate of ''false positive'' or ''false negative'' results and are associated with different pregnancy complications including miscarriage.

NIPS screening counseling:

If required, ECGI has dedicated resource and experience in form of trained genetic counselor having thorough pre/post natal genetic knowledge to ensure patients make informed decisions

Pre-test counseling considerations:

  • PreNatSure | NIPS screening Test should be an informed choice & offered to high risk pregnancies.
  • NIPS screens for Trisomies 21 (Down Syndrome), 18 (Edwards Syndrome), 13 (Patau Syndrome) and SCA  (Turner Syndrome, Triple X Syndrome, Klinefelter syndrome, Jacobs syndrome).

Post-test counseling considerations:

  • All results should be reviewed in the context of the clinical medical and family history.
  • It is recommended that no irreversible action should be made based on NIPS results alone.
  • Open neural tube defect screening is not part of NIPS and should be offered