Get important genetic information about your baby’s health as early as 9 weeks into your pregnancy with a non-invasive Panorama™ prenatal screening.
Panorama is a safe, non-invasive prenatal test (NIPT) and involves taking a sample of blood from the mother’s arm. The Panorama test screens for genetic abnormalities and disorders such as Down’s syndrome, Edward’s syndrome and Patau’s syndrome, and there are three options for testing to choose from.
Screens for genetic abnormalities including Down’s syndrome with a higher than 99% accuracy
Simple blood draw from the mother’s arm, posing no risk to the baby
Can determine the baby’s gender if requested, at no extra cost
Can all be done in one single visit to the clinic of your choice
There are three tests so you can choose which option would be best for you. We can also provide a gender test with any of the three tests below for no extra charge if you would like to know the gender of your baby. Before your test, the GP will discuss all three options with you, so you can decide now or make the decision during your appointment.
This screening involves a simple blood test, with bloods taken from the mother’s arm. It will identify whether the baby is at high or low risk of having Down’s syndrome, Edward’s syndrome or Patau’s syndrome.
This Panorama screening test involves a simple blood test. It identifies whether the fetus is high or low risk of having Down's syndrome, Edward's syndrome or Patau syndrome. It also tests for the next most common chromosome deletion (22q).
As above, the screening involves taking blood from the mother’s arm. In addition to the tests mentioned in the first two tests, this test also checks for micro-deletions, sex chromosome abnormalities and triploidy.
Do you have any questions about the Prenatal Genetic Testing? Take a look below at our frequently asked questions.
Panorama is a non-invasive DNA screening test that can tell you important information about your pregnancy, as early as nine weeks of gestation. With Panorama, you can find out the likelihood of your baby having a chromosomal abnormality, such as Down's syndrome, and all that’s required is a sample of your blood. If you so choose, you may also find out the gender of your baby.
Panorama® is the only non-invasive prenatal screening test that distinguishes between fetal and maternal cell-free DNA thanks to SNP-based sequencing and Natera's proprietary algorithm.
Using advanced bioinformatics techniques, Panorama screens for a broad panel of chromosomal conditions, including:
Chromosome Abnormalities:
Sex Chromosome Abnormalities:
Microdeletions:
According to the International Society for Prenatal Diagnosis (ISPD), non-invasive prenatal testing, including Panorama, is appropriate as a primary screening test for pregnant women of all ages.
Down's syndrome and certain other chromosomal conditions occur more frequently in babies born to mothers over 35 years old. Other conditions for which Panorama screens – such as microdeletion syndromes – occur with the same frequency in babies, regardless of the mother’s age.
Currently, Panorama cannot be used in the following types of pregnancies:
During pregnancy, some of the DNA from the baby crosses into Mum’s bloodstream. DNA is organized in structures known as chromosomes, which carry the baby's genetic information. Panorama uses a blood sample from the mother to analyze the baby’s DNA for certain chromosomal conditions that could affect the baby’s health.
Panorama is a non-invasive prenatal test (NIPT). This means that Panorama is safe for you and your baby. To have the test done, your healthcare provider just draws a sample of blood from your arm. The sample is then sent to a lab for processing.
Many pregnant women want to know about the health of their baby. If you would like information about your baby’s health, talk with your healthcare provider. He or she will advise you as to what tests you might want to have to help give you peace of mind.
The Panorama prenatal screen is designed for women of any age and ethnicity who are at least 9 weeks pregnant. It cannot currently be used by women who are carrying more than one baby (twins or triplets), women who have used a donor egg or a surrogate, or those who have received a bone marrow transplant.
Some women have a higher chance for chromosomal abnormalities because of their age, family history or other screening test results. However, certain conditions such as the microdeletions that are on Panorama’s panel affect women of all ages at the same rate.
Regardless of your age, family or reproductive history, Panorama can help determine your baby’s risk of being affected with a chromosome condition.
Currently, the test screens for:
risomy 21:TThis is caused by an extra copy of chromosome 21 and is also called Down's syndrome. This is the most common cause of intellectual disability. It may also cause certain birth defects of the heart or other organs and may cause hearing or vision problems.
Trisomy 18: This is caused by an extra copy of chromosome 18 and is also called Edwards syndrome. This causes severe intellectual disability. It also causes serious birth defects of the heart, brain and other organs. Babies with Edwards syndrome usually pass away before one year of age.
Trisomy 13: This is caused by an extra copy of chromosome 13 and is also called Patau syndrome. This causes severe intellectual disability. It also causes many serious birth defects. Babies with Patausyndrome usually pass away before one year of age.
Monosomy X (also called Turner syndrome or 45, X): This is caused by a missing X chromosome and affects only girls. Girls with Monosomy X may have heart defects, hearing problems, minor learning disabilities and are usually shorter than average. As adults, they are often infertile.
Triploidy: This condition is caused by having an extra set of 23 chromosomes (for a total of 69) and is associated with severe birth defects. A triploid pregnancy can cause serious complications for the mother, such as excessive bleeding after delivery and a risk of developing cancer. Babies with triploidy rarely make it to term and those that do usually pass away within a few months after delivery. It is important for the doctor to know about triploidy even if the mother miscarries so that she can be monitored for complications.
Klinefelter syndrome: This is caused by an extra copy of the X chromosome, is also known as 47, XXY and only affects boys. Boys with Klinefelter syndrome may have learning disabilities, tend to be taller than average, and most men with this condition are infertile.
Triple X syndrome: This is caused by an extra copy of the X chromosome, is also known as 47, XXX and only affects girls. Some girls with triple X syndrome have learning disabilities, some have emotional problems and most are taller than average.
XYY syndrome: This is caused by an extra copy of the Y chromosome, is also known as 47, XYY and only affects boys. Boys with this condition tend to be taller than average and may have associated mild learning and behavioral difficulties.
Panorama also screens for five microdeletion syndromes.
A small, missing (or "deleted") piece of a chromosome is called a microdeletion. Unlike Down's syndrome, which occurs more frequently in mothers who are 35 and older, microdeletions occur in pregnancies at the same rate for mothers of any age.
In many cases, there are no obvious ultrasound abnormalities that would suggest the fetus has a microdeletion. While many microdeletions have little impact on a child's health and life, there are some that can cause intellectual disabilities and birth defects. Panorama screens for five microdeletions, all of which can be associated with serious health issues:
22q11.2 deletion syndrome / DiGeorge syndrome (occurs in about 1 in 2,000 births) Babies born with 22q11.2 deletion syndrome often have heart defects, immune system problems, and mild-to-moderate intellectual disability. They may also have kidney problems, feeding problems, and/or seizures. Up to 25% of individuals with this syndrome develop schizophrenia in adulthood.
1p36 deletion syndrome (occurs in about 1 in 5,000 births) Babies born with 1p36 deletion syndrome have weak muscle tone, heart and other birth defects, intellectual disabilities, hearing loss and behavior problems. About half will have seizures.
Angelman syndrome (occurs in about 1 in 12,000 births) Babies born with Angelman syndrome often have delayed milestones (like sitting, crawling and walking), seizures, and problems with balance and walking. They also have severe intellectual disability and most do not develop speech.
Cri-du-chat syndrome, also known as 5p minus (occurs in about 1 in 20,000 births) Babies born with Cri-du-chat syndrome typically have low birth weight, small head size, and decreased muscle tone. Feeding and breathing difficulties are also common. They have moderate-to-severe intellectual disability.
Prader-Willi syndrome (occurs in about 1 in 10,000 births) Babies born with Prader-Willi syndrome have low muscle tone and problems with feeding and gaining weight. They also have intellectual disability. As children and adults, they have rapid weight gain and often develop obesity-related medical problems.
Panorama is not the only screening test available during pregnancy. Older screening tests that measure hormones in a pregnant woman’s blood (called maternal serum screening tests) can also tell you if there is a high chance your baby has a chromosomal condition, such as Down's syndrome. Maternal serum screening tests are less accurate than Panorama*.
This means that serum screening tests are more likely than Panorama to miss certain chromosomal conditions and more likely than Panorama to indicate an abnormal chromosomal condition when none actually exists. Panorama is a screening test; it is not a diagnostic procedure.
This means that test results from Panorama only alert you of the likelihood that your baby has a chromosomal condition. To diagnose the baby – and know with certainty if the baby has a chromosomal condition – invasive diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, can be done. Both of these tests have risks, including the small chance of miscarriage.
Understanding Non-Invasive Prenatal Testing (NIPT) in the UK: A Comprehensive Guide
In recent years, prenatal care has advanced significantly, offering expectant parents diverse options to check their unborn child’s health including the option of non invasive prenatal testing blood test (NIPT). Non-Invasive Prenatal Testing (NIPT) is a screening method that has gained popularity for its ability to detect certain genetic conditions early in pregnancy with minimal risk. This guide explores what NIPT is, how it works, its benefits, how it compares with the traditional Combined Test, and provides brief notes on several common chromosomal and genetic conditions.
Non-Invasive Prenatal Testing (NIPT) is a screening test that analyses small fragments of fetal DNA circulating in a pregnant woman’s blood.
Unlike invasive procedures such as amniocentesis or chorionic villus sampling (CVS), which carry a small risk of miscarriage, NIPT only needs a blood sample from the mother. This makes it a safer choice for screening for chromosomal abnormalities like Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13).
NIPT works by examining cell-free fetal DNA (cffDNA) that originates from the placenta and is present in the mother’s bloodstream. This DNA can be extracted and tested for chromosomal abnormalities. The test is usually done between the 10th and 14th weeks of pregnancy, with results available within one to two weeks.
It is crucial to remember that NIPT is a screening test, not a diagnostic one. While it can indicate the likelihood of certain conditions, it cannot confirm a diagnosis. Positive results from NIPT are usually followed by diagnostic tests such as amniocentesis or CVS to confirm the findings.
The Combined Test is a traditional first-trimester screening method that is offered on the NHS and assesses the risk of chromosomal abnormalities. It combines a blood test measuring levels of certain proteins and hormones in the mother’s blood with an ultrasound scan that measures the nuchal translucency (the fluid at the back of the baby’s neck). The Combined Test is typically performed between the 11th and 14th weeks of pregnancy and can identify 85% of pregnancies affected by Down Syndrome, Edward Syndrome and Patau Syndrome. It won’t screen for anything else.
While both NIPT and the Combined Test are used to screen for conditions like Down syndrome, there are significant differences between them:
– Accuracy: NIPT is more accurate than the Combined Test, with a detection rate of over 99% for Down syndrome, compared to around 85-90% for the Combined Test.
– Risk: NIPT is non-invasive and poses no risk to the fetus, while the Combined Test, although non-invasive, may lead to a higher chance of further invasive testing if results indicate a higher risk.
– Timing and Procedure: NIPT can be done as early as 10 weeks and involves just a blood test, while the Combined Test is done later and requires both a blood test and an ultrasound scan.
– Scope: The Combined Test provides a general risk assessment, while NIPT specifically analyses fetal DNA, making it more targeted.
NIPT is often recommended for women considered at higher risk for chromosomal abnormalities. This includes:
– Women aged 35 or older
– Those with a family history of genetic disorders
– Pregnancies identified as high-risk due to abnormal ultrasound findings
– Women with a previous pregnancy affected by a chromosomal condition
However, NIPT is increasingly available to all pregnant women who seek additional reassurance about their baby’s health and may be helpful in pregnancies with abnormal scan findings.
NIPT’s non-invasive nature is its most significant benefit, posing no risk to the fetus. Its accuracy is another advantage, particularly for detecting Down syndrome, with a detection rate surpassing 99%. Furthermore, NIPT allows for early detection, giving parents more time to consider their options and prepare for the arrival of a child with special needs if necessary. In some cases it may be combined with carrier testing to provide an even wider range of screening – See Medicover Veragene Test
Despite its benefits, NIPT has limitations. It is a screening test and cannot provide a definitive diagnosis. False positives and negatives, while rare, can occur, necessitating follow-up diagnostic tests for confirmation.
NIPT also does not cover all genetic conditions, focusing mainly on common chromosomal abnormalities. Parents should discuss with their healthcare provider what conditions the test will screen for and consider the potential emotional impact of the results. Counselling and support are essential for parents facing positive results or difficult decisions about their pregnancy.
NIPT and other prenatal screening methods can help identify the likelihood of several chromosomal and genetic conditions. Below is a brief overview of some of these conditions:
1. Down Syndrome (Trisomy 21)
Down Syndrome is the most common chromosomal condition, occurring in about 1 in 700 births. It is caused by an extra copy of chromosome 21 and is associated with intellectual disability, characteristic facial features, and a higher risk of certain health problems such as heart defects and respiratory issues. Early intervention and supportive care can help individuals with Down syndrome lead fulfilling lives.
2. Edwards Syndrome (Trisomy 18)
Edwards Syndrome, or Trisomy 18, occurs in approximately 1 in 5,000 live births and is caused by an extra copy of chromosome 18. It is associated with severe developmental delays, congenital heart defects, and other life-threatening organ abnormalities. Unfortunately, many infants with Edwards Syndrome do not survive beyond the first year of life.
3. Patau Syndrome (Trisomy 13)
Patau Syndrome, or Trisomy 13, is a rare condition occurring in about 1 in 16,000 live births, caused by an extra copy of chromosome 13. This condition results in severe intellectual disabilities, heart defects, and physical abnormalities such as cleft palate and extra fingers or toes. Like Edwards Syndrome, Patau Syndrome often leads to a very short life expectancy.
4. Turner Syndrome (Monosomy X)
Turner Syndrome occurs in females when one of the X chromosomes is missing or partially missing, affecting about 1 in 2,500 female births. It is characterized by short stature, delayed puberty, infertility, and sometimes heart defects or learning difficulties. With proper medical care and hormone therapies, individuals with Turner Syndrome can live healthy lives.
5. 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
22q11.2 Deletion Syndrome, also known as DiGeorge Syndrome, occurs when a small piece of chromosome 22 is missing. This condition affects about 1 in 4,000 live births and can cause a wide range of symptoms, including heart defects, immune system deficiencies, cleft palate, and developmental delays. The severity of symptoms varies, and early diagnosis and intervention can significantly improve outcomes.
6. Triploidy
Triploidy is a rare and usually fatal condition in which a baby has three sets of chromosomes instead of the usual two, resulting in 69 chromosomes instead of 46. This condition is typically found in early pregnancy and often leads to miscarriage. If the pregnancy continues to term, the baby is usually born with severe abnormalities and does not survive long after birth. Only the Panorama NIPT Test can screen for Triploidy.
VERAgene NIPT Test and Carrier Screen is the only non-invasive prenatal test (NIPT) that can simultaneously screen for aneuploidies (Down Syndrome, Edward Syndrome, Patau Syndrome) sex chromosome aneuploidy (Turner Syndrome, Kleinfelter Syndrome), microdeletions (22q Deletion or Di George Syndrome) and 100 single gene diseases (Cystic Fibrosis, B-Thalasaemia, Sickle Cell Disease etc). It can also be used to provide basic screening in cases of a vanishing twin.The diseases screened by VERAgene are associated with a moderate to severe health impact on the health, development and quality of life on the baby. By combining detection of aneuploidies and microdeletions with the screening of monogenic diseases, VERAgene provides a comprehensive solution to prospective parents.
It works for single and twin pregnancies, IVF own egg pregnancies and those with a vanishing twin.
VERAgene needs a maternal blood sample, and a buccal swab sample from the biological father. The maternal blood contains cell-free DNA from both the mother and the fetus. This cell-free DNA is isolated and analyzed along with the father’s DNA sample for any potential genetic mutations using next generation sequencing. Sophisticated bioinformatics algorithms are then used to compute the risk of the fetus having a monogenic disease.