Non-invasive Prenatal Testing (NIPT)
About NIPT test
NIPT test is also called non-invasive prenatal screening (NIPS). This testing examines small fragments of free-floating DNA in a pregnant woman’s blood. These DNA fragments are called cell-free DNA (cfDNA) and they can be analysed to detect fetal abnormalities. This test is used by medical professionals to determine whether a pregnant woman is at a higher risk of having a child who has a genetic disease.
Types of NIPTs
Genesis Serenity
This test looks at the chromosomes that are present in the mother and foetus during pregnancy to determine the likelihood of abnormalities such as Down syndrome, Edward's syndrome, and Patau syndrome.
Harmony
By analysing cell-free DNA in maternal blood, the Harmony test identifies whether a newborn has a high or low risk of acquiring trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), or trisomy 13. (Patau syndrome)
Panoramo
A non-invasive prenatal screening test called Panorama can distinguish foetal DNA from maternal cell-free DNA. Panorama checks the baby's gender and some of the most prevalent genetic disorders. It screens for very rare chromosomal abnormalities.
What is a NIPT test used for?
NIPT is an effective method for screening the following conditions:
Congenital abnormalities
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Disorders affecting sex chromosomes (X and Y)
Turner syndrome (Monosomy X/XO)
Klinefelter syndrome (XXY)
Triple X syndrome (XXX)
Jacob’s Syndrome (XYY)
sickle cell anaemia
Thalassemia
Cystic fibrosis
Who should get tested?
NIPT test is recommended for pregnant women who are at high risk of having an abnormal child. The following factors can increase the risk:
Advanced maternal age (>35 years)
History of infertility
History of stillbirths
Nutritional deficiencies (e.g. Iron)
Diabetes
Hypothyroidism
Infections (e.g. rubella, syphilis)
Test Preparation
Non-invasive prenatal testing is done to establish whether the unborn child has any congenital abnormalities. Special preparation and fasting are not required to perform this test. The NIPT test is usually carried out during the first trimester of pregnancy i.e. within the first 10 weeks of pregnancy. A simple blood sample is required for conducting the NIPT test. Maternal blood is collected through a vein from the pregnant woman’s arm. The sample is then sent to the laboratory for testing for specific conditions
Types of NIPT techniques
NIPT and Whole-Genome Sequencing
It provides the most effective and accurate results of NIPT, which offers a thorough overview of the complete genome.
Targeted Approaches for NIPT
Single nucleotide polymorphism (SNP) analysis, microarray analysis, and rolling circle amplification are some of the targeted technologies for NIPT. With targeted methods, only a small portion of chosen chromosomes are examined.
Interpretation of the result:
· The NIPT detects the placental-derived foetal cfDNA in the mother's bloodstream. This is termed a foetal fraction. The foetal fraction must be greater than 4% to ensure the most precise test findings. This typically occurs during the 10th week of pregnancy, and hence this test is recommended then.
· The NIPT test has the potential to identify a genetic disorder in the mother because it examines both maternal and foetal cfDNA.
· It takes around 2 weeks to get the result of the NIPT test.
· A “Negative” result implies that the foetus has a lower probability of developing genetic disorders to the non-functioning of chromosomes.
· A “positive” result means the foetus may have a higher chance of a genetic disorder if the cfDNA level is higher than the normal range. To confirm any true-positive prenatal chromosomal abnormalities, positive results may require additional testing.
FAQs
Why is the NIPT test necessary?
NIPT test helps in identifying a foetus at risk of chromosomal abnormalities. It provides comfort to expectant parents, gives early information that improves the management of a child's genetic health wherever possible, and prepares for childbirth and early intervention
I am an 8-week pregnant woman. Can I opt for a NIPT test at this stage?
NIPT analyses cell-free DNA or cfDNA fragments that circulate in the maternal bloodstream about 10 weeks into the pregnancy. Thus, you should opt for a NIPT test only after 10 weeks
Is there any risk to the NIPT test?
NIPT test is a completely safe and effective way of detecting fetal abnormalities and does not involve any risk
What other tests are needed as a follow-up if the NIPT test indicates that the fetus is at risk of some congenital disorder?
If the NIPT test indicates some risk to the fetus, it can be confirmed through diagnostic tests such as amniocentesis or chorionic villus sampling.
Is it recommended for all pregnant women to undergo the NIPT test?
Undergoing a NIPT test during pregnancy is not mandatory. It is a personal choice that can be taken after a discussion with your healthcare provider
Does the NIPT test indicate the sex of the fetus?
Yes, the NIPT test can indicate the sex of the fetus
Related tests
Tests At Lupin Diagnostics
Non-invasive Prenatal Test (NIPT)
₹ 9,990-
Includes
1 Test Parameter(s)
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Non-Invasive Prenatal Test (NIPT) or Non-Invasive Prenatal Screening is a highly sensitive and simple blood screening test that analyses genetic information to identify a baby’s risk for several genetic disorders and abnormalities, such as Down syndrome (a chromosomal disorder causing developmental and intellectual delay), Patau syndrome (a genetic disorder where a person has an extra chromosome 13), and Edwards syndrome (a chromosomal disorder with delayed growth and development), Klinefelter syndrome (a chromosomal condition in boys and men affecting physical & intellectual development) and Turner’s syndrome (a chromosomal disorder in girls that affects their development). NIPT is generally recommended to women based on the family history of pregnancy with chromosomal abnormalities or when the woman is over 35 years and older during pregnancy. NIPT test is recommended after 10 weeks of gestation. This test is highly accurate and is considered non-invasive as it involves only testing for a mother's blood sample without posing any risk to the foetus. NIPT is also used for aneuploidy (abnormal number of chromosomes), chromosomal aneuploidies—especially trisomy (an extra copy of a chromosome), or monosomy (a missing chromosome). NIPT next-generation sequencing (NGS) is a highly sensitive and specific approach to screen for fetal aneuploidy. This technology analyses cfDNA fragments across the whole genome.
Non- invasive Prenatal Test (NIPT) with Microdeletions
₹ 22,000-
Includes
1 Test Parameter(s)
Quadruple Reflex to NIPT
₹ 3,290-
Includes
1 Test Parameter(s)
-
Quadruple Reflex To NIPT is a blood test performed during the second trimester of pregnancy to detect the risk of genetic disorders in the fetus. Blood sample from the pregnant woman is taken to perform the reflex testing and divided into two samples. One of the samples is used to perform maternal marker screening tests. If the screening test shows any genetic risk for fetal aneuploidies, the second blood sample is used to perform further NIPT. The quadruple is a group of tests that measures levels of human chorionic gonadotropin (hCG), alphafetoprotein (AFP), dimeric inhibin A (DIA), and unconjugated estriol (uE3) in pregnant women's blood. Alpha-fetoprotein (AFP) is a protein produced by the liver of the fetus. Human chorionic gonadotropin (hCG) is a chemical released by tissues present in the fetus. If any abnormality is suspected. Estriol is produced by the placenta and diffused into the mother’s blood and can be detected as unconjugated estriol, and it is considered a marker for the detection of Down syndrome. Inhibin A is a hormone made by the placenta. the doctor may ask for an additional NIPT (Noninvasive prenatal testing is a prenatal screening that looks at DNA from a baby's placenta). This test is helpful in detecting chromosomal abnormalities such as trisomy 13, 18, and 21 in the fetus.