I would like to officially announce that I have been selected to be one of the Panorama Moms this year. What that means is that I will be learning and writing about prenatal, genetic carrier, preimplantation and other types of pregnancy related testing available by Natera. It’s an interesting learning experience and I hope that it will also help some of my readers make testing decisions that are safer and more accurate than the traditional testing.
When you are having a baby there is so much on your mind. You are always thinking about the health and safety of your baby first in almost every daily task that you take on. Then the doctors present prenatal testing to you as an option. Maybe you had higher than normal numbers, maybe your age is considered “advanced maternal age”. Whatever the case is there is a huge amount of stress and anxiety associated with the safety of your baby. There is so much to know about prenatal testing and it’s important to be well informed before you go in for testing, so in this point I am going to try to lay out some of the information available to me.
Before you go in for any kind of testing you should know the differences between the different types of tests and that although a diagnostic tests can give you a definitive answer, Non Invasive Prenatal Testing is much safer and can still give you a peace of mind without compromising the safety of your baby and pregnancy.
Non Invasive Prenatal Testing
What it is: There are different Non Invasive Prenatal Testing (NIPT) methods used by different companies and Panorama has the lowest chance of false negative and false positives. Panorama NIPT is a type of prenatal screening test offered as early as 9 weeks gestation. It is fairly easy as the test only requires a sample of the mother’s blood. You can also find out baby’s sex at the same time.
How it works: during pregnancy, some of the DNA from the baby crosses into mom’s bloodstream. DNA is organized in structures known as chromosomes, which carry the baby’s genetic information. Panorama is a laboratory test by Natera™ that uses a blood sample from the mother that analyzes the baby’s DNA for certain chromosome conditions that could affect the baby’s health. As the Panorama screening test is a non-invasive prenatal test (NIPT), it is safe for you and your baby. To have the test done, your doctor just draws a sample of blood from your arm.
Conditions Screened by Panorama NIPT
Panorama NIPT currently screens for more chromosome conditions than most of the other non-invasive tests, including Trisomy 21, 18 and 13. If you are wondering what is trisomy, a trisomy occurs when there is an extra copy of any one chromosome — 3 copies instead of 2.
Trisomy Chromosome Conditions
- Trisomy 21: This is caused by an extra copy of chromosome 21 and is also called Down 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 Patau syndrome usually pass away before one year of age.
Other Chromosomal Conditions
Other chromosomal conditions that Panorama screens for are:
- 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. Being pregnant with a baby with this condition can be hazardous to the mother as it can lead to excessive bleeding after delivery, life-threatening seizures, and can be associated with the development of 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.
- Vanishing twin: This is a multiple gestation pregnancy in which one of the babies dies in utero. Because fetuses that die in utero have a higher chance of having a genetic problem, women with this condition have a higher chance of having a “false positive” result while using other testing methods.
- 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.
- 47, XYY: 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 detects more cases of microdeletion syndromes compared to other tests. As if you aren’t stressed out enough, now you are wondering what is microdeletion? A small, missing (or “deleted”) piece of a chromosome is called a microdeletion. Microdeletions are usually not inherited from a parent. They are also not more common in older mothers, as Down syndrome is. In many cases, there are no obvious ultrasound abnormalities that would suggest the fetus has a microdeletion. Nothing you do before or during your pregnancy can cause a microdeletion, so there is no point in stressing over prevention. Some microdeletions cause intellectual disability and birth defects, while others have little impact on a child’s health and life. Panorama screens for the following microdeletions:
- 22q11.2 deletion syndrome / DiGeorge syndrome (happens 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.
- 1p36 deletion syndrome (happens in about 1 in 5,000 births) – Babies born with 1p36 deletion syndrome have weak muscle tone, heart and other birth defects, intellectual disabilities, and behavior problems. About half will have seizures.
- Angelman syndrome (happens 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 (happens 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 (happens 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.
High Accuracy & Low Risk with Panorama
With Panorama ONLY 1 out of 100 women will get a false positive result for 10 conditions (T21, T18, T13, MX, Triploidy and 5 microdeletion syndromes). It is much lower than other tests such as traditional maternal serum testing. Also, with Panorama, when it screens a high risk pregnancy like Downs Syndrome, it is a 90% chance that it is positive, whereas the chance of a positive with other high risk screening results are much less. Panorama has the lowest chance of false negatives and false positives. Also, clinical studies have shown that Panorama has the highest accuracy for fetal gender – greater than 99%. It is important to remember that although Panorama is very accurate, it is not definitive. Other tests like diagnostic testing are almost always definitive, but have a high risk of miscarriage due to the procedure. These are Chorionic Villi Sampling (CVS) and Amniocentesis (Amnio). CVS is usually done at 10 to 13 weeks of the pregnancy and Amnio is done at 15 to 24 weeks. Since CVS is done earlier, it means hopefully putting your worries to rest sooner. However, with Panorama the earliest results are possible at 9 weeks and it is the least evasive.
So next time you go to your doctor early in pregnancy, discuss getting a Panorama test instead of the traditional serum+ultrasound screen. It is important to be prepared and armed with a team of specialists and lots of knowledge in cases where the testing shows a possible issue. Newborn days are hard enough, being hit with out of the ordinary challenges related to some of these conditions can be absolutely overwhelming. When terminated a pregnancy isn’t an option or a choice, having the time to grieve, put yourself together, get information and support, read, learn, find the right doctors before the baby is born can really make a difference in how you handle the situation once the baby is here.
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