NIPT: Detect Chromosomal Conditions with Greater Accuracy

NIPT for Detecting Chromosomal Conditions

Every year around 1.7 million babies are born with a birth defect in India. Some of the most common disorders diagnosed throughout the country are chromosomal conditions like Down syndrome, Edward’s syndrome or Patau syndrome – which effect the physical, mental and emotional development of your baby. The commonality of these defects can be attributed to a number of different factors, including consanguineous marriage, limited access to preventative education and resources, pollution, genetics and the mother’s health and age.

With such an alarming rate of chromosomal conditions across the nation, but especially in the country’s most rural areas, programs have been implemented to address the issue and reduce the number of babies born with these disorders. Geneticists and medical practitioners have been searching for new methods to lessen India’s burden of birth defects, providing more options for India couples wanting to start a healthy family.

Prenatal screening is becoming a popular procedure to ease the minds of parents-to-be about their babies’ health, with no associated risks to the mother or baby. All pregnant women can get screened to determine the risk of their babies being born with a chromosomal condition as early as nine weeks into their pregnancy. Our Non-Invasive Prenatal Test, referred to commonly as NIPT, is 99.9% accurate, can help screen for some of these common conditions and can be completed with just a simple blood test.

What is a Chromosomal Condition?

In most cases, babies have a total of 46 chromosomes, the thread-like structures which hold our genes and determine our traits. Twenty-three of the chromosomes are received from the baby’s mother and the other 23 from the baby’s father. However, in some circumstances a baby may be born with an extra, missing or defective chromosome, which can result in your baby developing a chromosomal condition.

Common Chromosomal Conditions NIPT Screens For

Down Syndrome

The most common chromosomal condition is Down syndrome, also known as trisomy 21. Babies born with Down syndrome have an extra copy of chromosome 21 which alters the development of their body and brain. According to the Down Syndrome Federation of India, Down syndrome occurs in approximately 1 of 830 live births. Babies born with Down syndrome have distinct physical characteristics and often experience developmental delays, low muscle tone and learning disabilities. In addition, those diagnosed with Down syndrome are also at risk for associated health issues like heart defects, hearing loss or thyroid problems.

Unfortunately, trisomy 21 cannot be prevented. It can, however, be detected before the baby is born – giving families plenty of time to prepare, and do research on the condition and resources available to them. It is recommended all pregnant women screen for Down syndrome with the NIPT, but is especially recommended for mothers over 35 or for mothers who already have a child with the condition.

Edwards Syndrome

Also known as trisomy 18, Edwards syndrome occurs when a baby has a partial or full copy of chromosome 18. This chromosomal condition occurs in about 1 in every 6,000 live births. Most babies diagnosed with trisomy 18 will not survive to full term because of the life-threatening problems associated with the condition.

Babies with Edwards syndrome normally have a slow growth rate, low birth weight, an abnormally-shaped head, small jaw and extreme delays in their intellectual development. In addition, they may have kidney defects, heart problems, protruding intestines and difficulties with breathing and eating. Babies that do survive birth have only a 5-25% chance of surviving their first year of life.

Edwards syndrome, which was named after John Hilton Edwards who first described the condition, is not normally inherited but it can be detected with prenatal screening. If common characteristics for the disorder are detected, a diagnosis can be confirmed with further testing.

Patau Syndrome

Another chromosomal condition that can be detected with prenatal testing is trisomy 13, commonly referred to as Patau syndrome. This rare but serious condition occurs when a baby has three copies of chromosome 13 instead of two. Patau syndrome occurs is about 1 in every 16,000 live births and is characterized by severe development delays and advanced organ defects.

Most babies diagnosed with Patau syndrome will not survive the first few days or week of life due to a host of complications from associated medical problems. Babies that do survive to full term and delivery often have heart defects, brain and spinal cord abnormalities, structural eye defects, cleft palate and kidney problems.

There is no treatment for Patau syndrome and any management of the condition focuses on the physical problem associated with it.

After the Results

You will receive your NIPT results within 7-10 days after the procedure. A genetic counsellor can review your results with you and answer any questions. If the NIPT does detect an abnormality, the next step will be a diagnostic test, such as a CVS or amniocentesis, to confirm the findings and provide a diagnosis.

The earlier a chromosomal condition is detected, the more time you have to research and implement any available treatment options, as well as prepare for any care your baby will require after birth.

When you’re expecting, you need clear answers about your baby’s health. Ask your doctor about how you can get prenatal screening for chromosomal conditions, or contact us at 1800-103-7590.

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