NIPT Test in India / Harmony Test / Panorama Test
This is a complete guide to non-invasive prenatal test called Harmony Test or Panorama Test. This test is conducted during pregnancy to screen the baby for some genetic diseases. The table of contents in given below. Please feel free to jump to individual sections as you deem fit.
- What is NIPT Test or Harmony Test?
- What is the science behind Harmony Test?
- What is Down Syndrome or Trisomy 21?
- What is Edwards Syndrome or Trisomy 18?
- What is Patau Syndrome or Trisomy 13?
- What is Turner Syndrome?
- What is NIPT test procedure?
- When is this test done?
- Who should get NIPT / Panorama Test done?
- What is the significance of Panorama test?
- What is the cost of NIPT / Harmony Test / Panorama Test in India?
If you will like to book the test, anywhere in India, call us on 08882668822. You may fill out the form given below for a call back. Our NIPT blood sample is collected by certified phlebotomist and the testing of the sample is done at a very reputed laboratory abroad. Quality of the test is assured.
What is NIPT Test or Harmony Test?
NIPT (Non-Invasive Prenatal Testing), also known as Harmony Test or Panorama test, is done to detect foetal chromosomal abnormalities indicating the likelihood of the baby born with genetic disorders like Down syndrome, Patau syndrome, Edwards syndrome and Turner syndrome.
What is the science behind Harmony Test?
During the pregnancy maternal blood carries cell-free foetal DNA which can be isolated and measured. The difference in the chromosomal build-up of that DNA is used to identify abnormalities. Normally the DNA will have 23 pairs of chromosomes, 23 from mother and the other 23 from the father. But sometimes instead of 46 chromosomes the DNA carries an extra copy of chromosome or has a missing or structurally altered chromosome leading to some genetic conditions.
What is Down Syndrome or Trisomy 21?
Down Syndrome is a genetic disorder caused by the presence of all or part of third copy (hence Trisomy) of chromosome 21. The physical features and medical problems associated with Down Syndrome vary in each child. Some children may need a lot of medical help while others can lead healthier lives. It typically results in abnormal facial features, slant eyes and small ears. The other characteristics are delayed development and intellectual impairment. People with Down Syndrome also have an increased risk of pulmonary hypertension and congenital heart disease. Low muscle tone is also seen in cases of this syndrome, babies particularly may seem floppy. Other medical problems that may happen more frequently are
- stomach and intestine problems
- thyroid problem
- breathing problems including asthma and sleep apnea
- hearing or vision problems
Regular evaluations by ophthalmologists and audiologists are necessary for people with Down Syndrome. There is no cure for this syndrome but the health problems that go along with it can generally be treated. Many resources and facilities are available to help children and their families living with this condition. Earlier the life expectancy of a person with Down Syndrome was around 18-19 years but due to increased awareness and medical advancement it has increased considerably.
The likelihood of having a baby with Down syndrome increases with mother’s age. A woman whose age is 20 has about 1 in 2000 chance of having a baby with Down syndrome, while woman aged 40 has 1 in 100 chance. So older mothers should definitely undergo the NIPT screening for well-informed and healthier pregnancy. Know more about Down Syndrome here.
What is Edwards Syndrome or Trisomy 18?
An extra copy of chromosome 18 causes a serious disorder called Edwards syndrome. 94 % of the babies with Edwards syndrome will have the full form which means that every cell in their body has three copies of chromosome 18. Most of these babies die before infancy. The less severe form is called as mosaic trisomy but rarely babies survive into early adulthood. These babies are born with low birth weight along with a number of serious health issues. The health problems include heart and kidney problems, feeding problems, breathing problems and frequent infection of the lungs and urinary systems. Around one in 12 babies live beyond one year but have severe mental disabilities.
Like Down Syndrome there is no cure for Edwards Syndrome and symptoms can be very difficult to manage. Life threatening issues such as infections and heart problems have to be regularly monitored. For physical and mental abnormalities physiotherapy and occupational therapy are needed. A lot of support on both medical and emotional front is required.
Edwards syndrome is rarely inherited. It is a random error in cell division so it is extremely unlikely that siblings will also be born with similar abnormality. The chances of having baby with Edwards Syndrome increases with the mother’s age. So high risk mothers should go for prenatal screening test to make an informed choice to continue the pregnancy. To know more about this condition, you may check here.
What is Patau Syndrome or Trisomy 13?
The prevalence of extra chromosome number 13 instead of the usual pair causes this abnormality called Patau Syndrome. Many foetus never survive until term or are stillborn. It also results in growth restriction and low birth weight. 80% of babies born with Patau Syndrome have congenital heart defect. As the brain does not divide in two halves, facial defects like cleft lip and palate can be present. Neural tube defects and severe learning disability are also signs of the disorder. Seizures and feeding difficulties are common.
If Patau Syndrome is due to structural chromosomal abnormality or unbalanced chromosomal translocation then both the parents need to undergo chromosomal analysis. This is significant for future pregnancies as there is higher chance of recurrence. Risk also rises with maternal age but not as significantly as in Down Syndrome and Edwards Syndrome. Nevertheless, expectant mothers above age 35 or having a close family history of giving birth with Patau Syndrome should go for the NIPT screening. To know more about this abnormality, check here.
What is Turner Syndrome?
Turner Syndrome is a condition in which a female is completely or partly missing an X chromosome. While normal people have 46 chromosomes, people with Turner Syndrome will have 45. The chromosomal abnormality may be present in some cells resulting in less severe form with fewer symptoms. The common symptoms are short stature, webbed neck, low set ears and reproductive sterility. Diabetes and heart defects occur more frequently resulting in shorter life expectancy.
Turner syndrome, unfortunately, has no cure. Only symptomatic treatments are possible . A growth hormone injection is given to increase adult height. Thyroid hormones supplements are given to treat hypothyroidism. As women with Turner Syndrome have an increased risk of type 1 diabetes in childhood and further developing type 2 diabetes in adult years , they are advised to maintain a healthy weight. One third of women with Turner Syndrome have kidney problems but can be corrected surgically. Women who are unable to conceive due to this condition may be able to use IVF or other fertility treatments.
In most cases , turner syndrome is a random event so the risk to parents with a Turner Syndrome child having pregnancies with similar disorder is not increased. In spite of less recurrence risk, screening and genetic counselling is often recommended for parents who have a pregnancy or a child with Turner Syndrome. To know more about this genetic abnormality, check here.
What is NIPT (Non-invasive Prenatal Testing) procedure?
The NIPT test requires drawing of blood from the expectant mother for testing at a lab. As no invasion of the foetus is involved there is NO risk of miscarriage. The test is highly accurate (over 99.5%) and totally safe. However NIPT is a screening test, which means if the result of the test is positive further diagnostic tests are carried out to confirm the disorder.
When is this test done?
The test can be done anytime after the tenth week into pregnancy, typically between 10-24 weeks. Results are back in 6-7 days.
Who should get NIPT Test / Panorama Test done?
The test is recommended for the expectant mothers who are
- Are first time pregnant and above 35 years of age
- Has a family history of these conditions
- Any other pre-natal test raises a concern
Since this test is not invasive and completely safe, doctors are recommending this tests more now. Check with your doctor if this test is required for you.
What is the significance of Panorama test?
While traditional maternal blood tests miss to detect genetic abnormalities, NIPT accurately identifies more than 95% of cases. It also eradicates the risk of invasive testing for genetic disorders on low risk mothers. Only the positive results need to undergo further testing. Also it allows the parents the choice of continuing or terminating the affected pregnancy.
What is the cost of NIPT Test in India / Harmony Test in India / Panorama Test in India?
NIPT Test which screens for the four genetic abnormalities of Down Syndrome, Turner Syndrome, Edwards Syndrome and Patau Syndrome, can be done in India now. LabsAdvisor can get this test done for you anywhere in India with home collection facility. You may click on the link below and book.
Please call us now on 08882668822 or fill out the form at the top of this article to get a call back.
Please be aware that gender determination is illegal in India. Please do NOT call us for gender determination tests.
Other articles on DNA tests by LabsAdvisor that you may find useful are