NIPT Test (Noninvasive Prenatal Testing)

• The test is intended for use in pregnant women between 10-17 weeks of pregnancy and who are at high risk for the chromosomal aneuploidies. 
• NIPT is recommended for pregnant women to screen for chromosomal diseases that are brought on by an extra or missing copy of a chromosome (aneuploidy).
• NIPT is used to determine the risk for the foetus being born with certain genetic abnormalities such as:

1. Down syndrome (trisomy 21, caused by an extra chromosome 21)
2. Edwards syndrome (trisomy 18, caused by an extra chromosome 18)
3. Patau syndrome (trisomy 13, caused by an extra chromosome 13)
4. Extra or missing copies of the X chromosome and Y chromosome, the sex chromosomes)
5. Aneuploidies (missing (deleted) or copied (duplicated) sections of a chromosome)

• NIPT is recommended for all types of pregnancies.
• NIPT is offered to all women after at least 10 weeks of pregnancy.
• NIPT is recommended as the first line of screening for all pregnancies, irrespective of the risk. 
• NIPT is especially significant if the woman is above 30 years of age.

Patient Preparation: 12-14 hrs fasting required. NIPT is recommended at gestational age between 10 and 17 weeks. Sample collection is required to be done in special tube (streck tube) & by prior appointment. The patient is required to fill test requisition form (TRF) which include Clinician Stamp, Ultrasound Report (USG), Dual and Quadruple Marker Report, and Photo Identification Proof.

NIPT test measures foetal cell-free DNA (cfDNA) in the mother’s bloodstream to be able to identify foetal chromosomal or genetic abnormalities.

NIPT test requires a blood sample. A tourniquet (elastic) band is placed tightly on the upper arm. The patient is then asked to make a fist. This helps in the build-up of blood filling the veins. The skin is disinfected before needle insertion and the blood sample is collected in vacutainer.

NIPT test is performed on ION Genestudio S5 Plus NGS platform and involves isolation of cell free fetal DNA from maternal blood, generation of genomic DNA library, high throughput sequencing of extracted cell free fetal DNA and calculation of molecular mass of fetal DNA in chromosomes. Chromosomal aneuploidies can then be detected using bioinformatics analyses (Sage 12plex analytic program version v.1) where the detection rate and sensitivity are over 99%.

A "low risk" result indicates that there is often very little probability that the baby will have trisomy 21, trisomy 18, or trisomy 13. A trisomy 21, trisomy 18, or trisomy 13 result that is marked as "high risk" indicates that the infant is likely to have one of these chromosomal errors. If your NIPT result is "high risk," you should consulkt a genetic counsellor who can explain your results, offer assistance, go over your options, and set up additional testing as necessary.

To be able to detect foetal chromosome abnormalities, there must be sufficient foetal cfDNA in the mother's bloodstream. The foetal fraction is the percentage of cfDNA in maternal blood that originates from the placenta. The foetal percentage must normally be greater than 4%, which happens during the ninth week of pregnancy. Low foetal fractions may prevent the test from being run or result in a false negative. Low foetal fractions can be caused by foetal abnormalities, sampling mistakes, maternal obesity, and testing too early in the pregnancy.

• D0039 Maternal Screen-1st Trimester Dual Marker Test 
• D0041 Maternal Screen-2nd Trimester Triple Marker Test
• D0040 Maternal Screen-2nd Trimester Quadruple Marker Test

The NIPT test is a safe, non-invasive prenatal screening that analyses foetal DNA in the mother’s blood to assess the risk of chromosomal abnormalities. This screening method provides valuable insights without any risk to the foetus, making the NIPT test a reliable option for early prenatal assessment. 

The NIPT test is crucial because it offers a safe and accurate way to screen for significant chromosomal abnormalities early in pregnancy, enabling parents to make informed decisions about further testing and prepare for potential health issues in the baby. 

The NIPT test can be performed as early as 10 weeks into pregnancy, providing ample time for early risk assessment. At this stage, sufficient foetal DNA is circulating in the mother's bloodstream, allowing for accurate analysis. The NIPT test offers a non-invasive way to screen for chromosomal abnormalities without any risk to the foetus. 

A positive NIPT test result indicates a higher risk of a chromosomal abnormality but does not confirm a diagnosis. Additional diagnostic procedures, like amniocentesis or chorionic villus sampling (CVS), may be recommended for confirmation. 

The NIPT test offers several advantages, including early screening for chromosomal abnormalities (as early as 10 weeks), a non-invasive approach that poses no risk to the foetus, high accuracy in identifying Down syndrome and other trisomies, and support for informed decision-making regarding further testing and pregnancy management. 

No, fasting is not necessary before taking the NIPT test. The test involves a simple blood draw, and there are no specific dietary restrictions or preparations required.

Yes, Metropolis Healthcare provides the option of home sample collection for the NIPT test, making it easier for pregnant women to access this essential screening tool. 

The results of the NIPT test are usually available within 10 days, depending on the day/time the sample collected and processed.