Discover More about Your Baby’s Health
Non-invasive prenatal screening can be helpful in learning more about your baby’s health. It can help you to consider all of your options, how to manage your pregnancy and consider if special management or care is needed. Non-invasive prenatal screening is safe and usually involves just a simple blood test. Your results are usually available about 2 weeks after the test. We advise all parents-to-be to learn about prenatal screening before undertaking any test and it is vital that your results are properly communicated and explained.
Here at Innermost Healthcare, our NIPT Panorama Test from Natera includes:
• the opportunity to discuss prenatal screening before you undertake the test with an experienced Consultant in Fetal Medicine
• the Panorama Test (learn more about the test below)
• fetal gender (optional)
• an early viability or growth scan (scan selection depends on your stage in pregnancy)
• the opportunity to discuss your results with an experienced Consultant in Fetal Medicine
• information about your options and support with your choices
Please make sure that you read all of the information here and on the first trimester NIPT page.
About The Panorama Test from Natera (Next Generation NIPT)
The Panorama Test is a prenatal DNA screening test. It provides you with information about the likelihood that your baby has certain genetic conditions based on a maternal blood sample (a simple blood test from mum-to-be). Non-invasive prenatal testing (NIPT) uses this blood sample from the mother to analyse DNA from the placenta (afterbirth) for certain chromosome conditions that could affect a baby’s health.
About NIPT
NIPT can:
• screen for genetic conditions such as Down syndrome, Edward Syndrome and Patau Syndrome
• identify your baby’s gender (optional)*
• provide substantially fewer incorrect results than maternal serum screening or other prenatal blood tests
• be done as early as nine weeks into your pregnancy; and
• poses no risk to your baby
How is the Panorama Test different from other tests?
Panorama is the only NIPT that can tell the difference between the mother’s and the baby’s DNA, which results in:
• Fewer false positives and fewer false negatives. [1,2,3]
• The highest reported gender accuracy of any NIPS (gender reporting is optional*) [1,2,3]
• The ability to detect triploidy, a severe chromosomal condition that can result in serious pregnancy complications if not monitored. [6,7]
• The ability to distinguish whether twins are identical or fraternal – this information can affect the care plan that your healthcare provider creates.
What does the Panorama Test screen for?
Singleton pregnancies
• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Triploidy
• Monosomy X (Turner syndrome)
• Sex chromosome trisomies
• Microdeletions, including 22q11.2 deletion syndrome
• Gender (optional)*
Twin pregnancies
• Non identical or fraternal twins
• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Gender of each twin (optional)
If our screening finds that your twins are identical, Panorama can additionally screen for:
• Monosomy X (Turner syndrome)
• Sex chromosome trisomies
• 22q11.2 deletion syndrome
Egg donor or surrogate pregnancies
• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Gender (optional)*
What are ‘microdeletions’?
A small, missing piece of a chromosome is called a microdeletion. Unlike Down 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. Panorama screens for up to five microdeletion syndromes associated with serious health problems:
• 22q11.2 deletion (DiGeorge) syndrome
• 1p36 deletion syndrome
• Angelman syndrome
• Prader-Willi syndrome
• Cri-du-chat syndrome
Information about the Test
What does the DETECTION RATE mean?
The detection rate or sensitivity is the ability to correctly identify a baby with a specific condition. For example, in a group of babies with Trisomy 21, Panorama will correctly identify more than 99% of those cases.
What is SPECIFICITY?
This is the ability to correctly identify a baby that does not have the condition.
What is the POSITIVE PREDICTIVE VALUE (PPV)?
This is the likelihood that if the result says high probability that the fetus will actually have the condition. For example, when the Panorama Test shows a high probability of Trisomy 21, then there is a 91% chance that the fetus will actually have Trisomy 21. For Trisomy 13, the PPV is however only 38% (see the information in the ‘learn more’ section).
What is the NEGATIVE PREDICTIVE VALUE (NPV)?
This is the likelihood that if the result says low probability that the fetus will not have the condition.
What will the Panorama Test tell me?
Panorama gives you a personalised probability score and tells you if there is a high or low probability that your pregnancy may have one of the screened for conditions such as Down syndrome. Like other screening tests, Panorama does not provide a definitive diagnosis of the condition. If your test reports a high probability result then you will be advised to seek confirmatory diagnosis from further testing.
When will I receive my Panorama Test results?
Your test results will be sent to the healthcare provider who ordered the test. Your healthcare provider will usually receive your results within 2 weeks.
What do the Test Results mean?
• A ‘low probability’ result for a specific genetic condition means that it is unlikely that the fetus has the condition but this is not definite.
• A “high probability” result for a specific genetic condition means that it is likely that the fetus has the condition but this is not definite. Prenatal diagnostic testing, such as CVS or amniocentesis would then be recommended for confirmation. Your healthcare provider will discuss recommended follow-up steps with you, which may include referral to a specialist and/or testing on one or both parents.
More about a HIGH PROBABILITY result: A HIGH PROBABILITY result is indicative of a high likelihood for a condition. The actual likelihood of a fetus with the condition depends on the condition being screened for and is the PPV. It is important to note that if the test results show there is a HIGH PROBABILITY that the fetus has trisomy 21, 18 or 13, it does not mean that the fetus definitely has one of these conditions, although it is highly likely. For this reason, in the event of a high probability (or positive) result, follow-up testing by an invasive procedure is recommended.
More about a LOW PROBABILITY result: If the test results show that there is a LOW PROBABILITY that the fetus has a condition, it is unlikely that the fetus has it. The actual likelihood depends on the condition being screened for and is the NPV. It is important to know that not all trisomy fetuses will be detected.
All results should be interpreted by a clinician in the context of clinical and familial data: patients should continue with their usual scan appointments and care following testing.
What are the main features of the genetic conditions evaluated with Panorama?
Trisomy 21
This is usually caused by an extra copy of chromosome 21 and is also called Down Syndrome. This is the most common genetic cause of intellectual disability and occurs in about 1 in every 830 live births1. Individuals with Down Syndrome have an average IQ of 50 and all have some degree of intellectual disability. Some children with Down Syndrome have defects of the heart or other organs that may require surgery or medical treatment. Some have other medical conditions including hearing or vision loss.
Trisomy 18
This is usually caused by an extra copy of chromosome 18 and is also called Edwards Syndrome. Trisomy 18 occurs in about 1 in every 7500 live births and causes severe intellectual disability1. Some babies with Trisomy 18 have multiple severe birth defects of the brain, heart and other organs. Poor growth during pregnancy is common and many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age. Babies who survive have profound intellectual disabilities and growth and development problems.
Trisomy 13
This is usually caused by an extra copy of chromosome 13 and is also called Patau Syndrome. Trisomy 13 occurs in about 1 in every 22,700 live births and causes severe intellectual disability1. Most babies with trisomy 13 have multiple severe birth defects of the brain and other organs. Many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age.
Monosomy X*
This is usually caused by a missing copy of the X chromosome and is also called Turner Syndrome. This only affects girls and is found in every 1 in 5000 live births1, 2. Girls with Monosomy X are shorter than average. Some girls have heart or kidney defects, hearing problems, and some have minor learning disabilities. Girls with Monosomy X may benefit from growth hormone treatments in early childhood and usually need hormone replacement to enter puberty. As adults, they often have infertility.
Triploidy**
This is usually caused by an extra copy of all chromosomes. Abnormalities are often present in both the placenta and the fetus. It is found in about 1 in 1000 first trimester pregnancies [9]; most babies with triploidy are miscarried or stillborn. Of those rare babies born alive, most die before one year of age. Mothers carrying a baby with triploidy can also experience various pregnancy complications such as pre-eclampsia, severe nausea, excessive bleeding, and rarely persistent placental disease.
* Monosomy X is not evaluated for dizygotic (non-identical) twin pregnancies or for pregnancies achieved using an egg donor or surrogate.
** Triploidy is not evaluated for twin pregnancies or for pregnancies achieved using an egg donor or surrogate.
What are the main features of the microdeletion conditions evaluated with Panorama?
22q11.2 deletion syndrome (DiGeorge/Velocardiofacial syndrome)
22q11.2 deletion syndrome is usually caused by a small missing piece of chromosome 22. It is found in about 1 in 2000 newborns. Most children with this condition have mild-to-moderate intellectual disability and delayed speech and language. Many have heart defects, abnormalities involving the palate and/or immune system, and other health problems. Some people with this condition have autism spectrum disorder and some will develop psychiatric illnesses such as schizophrenia later in life.
1p36 deletion syndrome
This syndrome is usually caused by a small missing piece of chromosome 1 and is also called Monosomy 1p36. About 1 in every 5000 people has this condition. Children have moderate-to-severe intellectual disability. Most children have heart defects. Some children may need physical and occupational therapies to help with weak muscle tone. About half of children with Monosomy 1p36 have seizures and/or behavioral problems; some have hearing and/or vision loss.
Cri du chat syndrome (5p-)
This syndrome is usually caused by a small missing piece of chromosome 5 and is also called 5p minus (5p-) syndrome. About 1 in every 20,000 babies is born with this condition. Babies are usually small at birth with a small brain and head size. They often have breathing and feeding problems. Children with cri du chat have severe intellectual disability.
Angelman syndrome (15q11.2 deletion maternal)
Angelman syndrome (AS) is usually caused by a small missing piece of chromosome number 15, or from inheriting two copies of chromosome 15 from one parent and none from the other; there are other rare causes as well. About 1 in every 12,000 babies is born with this condition. Babies often have feeding difficulties and weak muscle tone. Children have severe intellectual disability and motor problems; most have a small brain and head size and some have seizures. Most children do not develop speech.
Prader-Willi syndrome (15q11.2 deletion paternal)
Prader-Willi syndrome (PWS) is usually caused by a small missing piece of chromosome number 15, or from inheriting two copies of chromosome 15 from one parent and none from the other; there are other rare causes as well. About 1 in every 10,000 babies is born with this condition. Babies have weak muscle tone and feeding problems. Children with PWS typically have intellectual disability, behavior problems, and delayed motor and language development. They also have excessive appetites and may become obese and develop diabetes.
How do I get started with the Panorama Test?
Panorama is available through your local healthcare provider Innermost Healthcare. Just call us on 0345 230 3386 for details. Even if you live elsewhere in the UK we can put you in touch with a local clinic, send you a postal kit so you can have a blood sample taken locally or we can arrange for a phlebotamist to take the blood sample at home.
References
1. Nicolaides et al. Prenat Diagn. 2013 June; 33(6):575-9.
2. Pergament et al. Obstet Gynecol. 2014 Aug; 124(2 Pt 1):210-8.
3. Ryan et al. Fetal Diagn Ther. 2016;40(3): 219-223.
4. Dar et al. Am J Obstet Gynecol. 2014 Nov; 211(5):527.e1-527.e17.
5. Norton et al. N Engl J Med 2015 Apr; 372(17):1589-97.
6. Nicolaides et al. Fetal Diagn Ther. 2014;35(3):212-7.
7. Curnow et al. Am J Obstet Gynecol. 2015 Jan; 212(1):79.e1-9.
8. Moise. Obst Gynecol. 2005 Dec; 106(6):1393–1407.
9. Nussbaum et al 2007 Thompson and Thompson Genetics in Medicine (7th Ed) Oxford Sounders, Philadelphia, PA; 2Arthur Robinson & Mary G Linden, 1993, Clinical Genetics Handbook, Second Edition. Cambridge, Mass, Blackwell Scientific Publications
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