Panorama test vs harmony
Panorama – Non-Invasive Prenatal Testing (NIPT)
Panorama screens for common genetic conditions that are caused by extra or missing chromosomes in the baby’s DNA. Because Panorama uses a unique technology to distinguish between the pregnant person’s and the baby’s DNA, it is the only NIPT that tests for triploidy, and it can avoid known sources of error that affect other NIPTs.1 Some conditions, such as Down syndrome, are caused by extra copies of a specific chromosome. Others, such as microdeletions, occur when a chromosome is missing a small piece of genetic information.1
TRISOMIES*
Trisomy 21 (Down syndrome)
Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.
Trisomy 18 (Edwards syndrome)
Babies with trisomy 18 have three copies of chromosome 18 and have severe intellectual disabilities and birth defects typically involving the heart, brain, and kidneys. Babies with trisomy 18 can also have visible birth defects such as an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), a small head, clubbed feet, underdeveloped fingers, and toes, and a small jaw. Unfortunately, most pregnancies with trisomy 18 will miscarry. If born alive, most affected babies with trisomy 18 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 18 occurs in approximately 1 in 3,000 live births.
Trisomy 13 (Patau syndrome)
Babies with trisomy 13 have three copies of chromosome 13 and have severe intellectual disabilities. They often have birth defects involving the heart, brain, and kidneys. Visible abnormalities include extra fingers and/or toes or an opening in the lip, with or without an opening in the palate. Given the severe disabilities, most pregnancies affected by trisomy 13 will miscarry. If born alive, most affected babies with trisomy 13 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 13 occurs in approximately 1 in 5,000 live births.
SEX CHROMOSOME ANEUPLOIDIES**
Monosomy X (Turner syndrome)
Babies with monosomy X are biological females who have one X chromosome instead of two. Unfortunately, a high proportion of pregnancies with monosomy X will result in a miscarriage in the first or second trimester of pregnancy. Babies with monosomy X that make it to term may have heart defects, learning difficulties, and infertility. In most cases, babies with monosomy X will need extra medical care including hormone therapy at various stages of life.
XXY Syndrome (Klinefelter Syndrome)
Babies with XXY syndrome have two X chromosomes and one Y chromosome (XXY). This condition can be associated with learning difficulties and behavioral problems. People with Klinefelter syndrome might be infertile. About 1 in 500 biological males will be born with Klinefelter syndrome.
Triple X syndrome
Babies with Triple X syndrome have three X chromosomes (XXX). Children with this condition could be taller than average and might experience learning difficulties or behavioral problems. Approximately 1 in 800 biological females will be born with three X chromosomes.
XYY Syndrome (Jacob's Syndrome)
Babies with XYY syndrome have one X chromosome and two Y chromosomes (XYY). Most babies with XYY syndrome do not have any birth defects. Children with XYY could be taller than average and have an increased chance for learning, speech, and behavioral problems. Approximately 1 in 1,000 biological males will be born with one X chromosome and two Y chromosomes.
MICRODELETIONS**
*Not available for egg donor or surrogate pregnancies or in cases of dizygotic (non-identical twins)
22q11.2 deletion syndrome
22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome number 22. About one in every 2,000 babies is born with 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 deletion syndrome have mild-to-moderate intellectual disability and speech delays; some will also have low calcium levels, kidney problems, feeding problems, and/or seizures. About one in five children with 22q11.2 deletion syndrome have autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome have a psychiatric illness, like schizophrenia.
Prader-Willi syndrome†
Prader-Willi syndrome occurs when either a small piece of chromosome 15 is missing or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). Babies with Prader-Willi syndrome have low muscle tone and problems with growth and feeding. Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10,000 babies are born with Prader-Willi syndrome.
Angelman syndrome†
Angelman syndrome happens when either a small piece of chromosome 15 is missing, or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). About 1 in 12,000 babies are born with Angelman syndrome. Babies and children with Angelman syndrome have severe intellectual disability, delayed milestones, seizures, and problems with balance and walking.
1p36 deletion syndrome
1p36 deletion syndrome, also referred to as Monosomy 1p36 syndrome is caused by a missing piece of chromosome 1. Children with 1p36 deletion syndrome have intellectual disabilities. Most have heart defects and weak muscle tone. About half of affected individuals have seizures (epilepsy), behavioral problems, and hearing loss. Some children with 1p36 deletion syndrome also have vision problems or additional birth defects of other organs. About 1 in 5,000 newborn babies has 1p36 deletion syndrome.
Cri-du-chat syndrome
A missing piece of chromosome 5 causes Cri-du-chat syndrome, also called 5p- (5p minus) syndrome. The name “Cri-du-chat” was given to this syndrome due to the high-pitched, cat-like cry that babies with this syndrome often make. Babies with Cri-du-chat syndrome typically have low birth weight, a small head size, and weak muscle tone. Feeding and breathing problems are common in infancy. Children with this disorder have moderate-to-severe intellectual disability, including speech and language delays. They may also have growth delays, behavior problems, and some have curvature of the spine (scoliosis). About one in every 20,000 babies is born with Cri-du-chat syndrome. They may also have heart defects, growth delay, behavior problems and some have curvature of the spine.
TRIPLOIDY**
Only NIPT that tests for triploidy
Babies with triploidy have a complete extra set of chromosomes for a total of 69 chromosomes instead of the usual 46. At 10 weeks gestation, one in 1,000 pregnancies is affected by triploidy. It is extremely rare for these pregnancies to reach term as they typically spontaneously miscarry early in pregnancy. Those few liveborns usually pass away within days of delivery due to heart, brain, and kidney problems. Babies with triploidy also often have birth defects affecting the extremities and face.
Carrying a baby with triploidy can increase a mother’s risk for a variety of conditions: pre-eclampsia (which can lead to seizures) and excessive bleeding after delivery. In rare instances, triploid pregnancies can persist and progress to a type of cancer called choriocarcinoma. Knowing about triploidy allows the physician to monitor the health of the mother appropriately.
Which Non-Invasive Prenatal Test (NIPT) Is Best?
Trying to navigate early pregnancy can be a stressful time; there are lots to things to think about and consider, one of which is Non-Invasive Prenatal Testing (NIPT). You may be asking What is NIPT? Which NIPT test is best? Dr Alex Eskander, Consultant Gynaecologist here at The Gynae Centre, explains everything you need to know about NIPT.
What Is The NIPT Test For?
NIPT is an alternative, added screening for chromosomal abnormalities to give you peace of mind. NIPT screens your unborn baby for common genetic problems, including Down’s Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), and Patau Syndrome (Trisomy 13). Down’s Syndrome is a congenital disease which arises from a chromosome defect. It can create severe learning difficulties, and is linked to vision and hearing issues, as well as heart problems.
Is The NIPT Test Accurate?
Traditionally a blood test, combined with the nuchal translucency scan at 12 weeks, is used to look at the nose bone and skin fold at the back of the baby’s neck in order to ascertain any abnormalities. This method is 92% accurate, but still leaves margin for error.
“NIPT testing offers a considerably higher degree of certainty – more than 99% accuracy when screening for Down’s Syndrome.
Although not 100% conclusive, it reduces the need for more invasive, higher risk testing,” explains Dr Eskander.
The only way to be certain of any chromosomal defects is to undergo an invasive procedure like Amniocentesis which withdraws some of the amniotic fluid that surrounds the baby, or Chorionic Villi Sampling (CVS) which takes a small amount of tissue from the placenta. Both of these tests are invasive, stressful, and involve risk of miscarriage. For mums-to-be, this is a nerve-wracking thought.
How Does The NIPT Test Work?
At around 10 weeks of pregnancy, some of the foetus’s DNA enters the mother’s bloodstream. NIPT is non-invasive, and involves taking a blood sample from the mother – zero risk to mum and baby – and analysing the sample for cell free foetal DNA. The test will determine the risk of genetic abnormalities; an imbalance of chromosomes shown in the blood sample may indicate a genetic condition.
NIPT is a fantastic advancement in the screening of genetic conditions but tests only look for a specific set of conditions, which don’t include some of the less common diseases like early preeclampsia, open spina bifida.
NIPT can also identify the sex of your baby early on if you don’t want to wait until the gender scan at around 18-21 weeks
Dr Eskander says: “It is particularly important for mothers who have a history of genetic abnormalities, or older mothers, to have NIPT as they are at higher risk of giving birth to a baby with chromosomal abnormalities. Being prepared is always advised and even if you are experiencing a normal pregnancy, NIPT can offer you peace of mind. The results of your NIPT test can help you decide whether to pursue further investigative testing, prepare to make adjustments to your life, and also enables you to come to the difficult decision of whether or not to terminate the pregnancy. ”
Which NIPT Test Is Best?
There are currently two main NIPT tests available in the UK: Harmony Test and Panorama Test – both are offered at The Gynae Centre. All three have a high accuracy rate, are non-invasive, and are safe for mum and baby, and results take the same time to come through.
“Both NIPT tests offer a very high level of accuracy, but which you choose is a very personal choice. There are minor variations in the accuracy of the results, which we have outlined below so you can weigh up the differences and your options,” adds Dr Eskander.
Harmony Test | Panorama Test | ||
Down’s Syndrome (Trisomy 21) | Sensitivity | >99% | >99% |
False positive rate | 0.1% | 0% | |
Edwards Syndrome (Trisomy 18) | Sensitivity | 98% | >99% |
False positive rate | 0. 1% | <0.1% | |
Patau’s Syndrome (Trisomy 13) | Sensitivity | 80% | >99% |
False positive rate | 0.05% | 0% | |
Turners Syndrome (Monosomy X) | Sensitivity | 96.7% | 91.7% |
False positive rate | Unreported | <0.1% | |
Triploidy (optional) | Sensitivity | Unable to detect | >99% |
False positive rate | >99% | 0% | |
Gender (optional) | Sensitivity | >99% | >99% |
False positive rate | Unreported | 0% |
(Table adapted from The Portland Hospital comparison)
The Gynae Centre is London’s finest private women’s healthcare clinic. If you would like to book an NIPT test with one of our consultants, simply call the clinic on 020 7580 8090 to book an appointment.
Test: Artison Studio 55 soundbar
Features:
There are soundbars of several standard sizes in the line of the American company Artison. Recall that a detailed article about this unusual American brand was recently published on the AVREPORT.ru portal. In this article, you can get acquainted with the entire line of acoustic systems, including soundbars Studio . Model Artison Studio 55 is the largest in series Studio - as the name suggests, it is designed to be used with TVs with a diagonal of 55".
According to the manufacturer, all soundbars of the Studio series are designed for the most accurate sound reproduction, and not only movie soundtracks, but also music, which, you see, is extremely unusual for this class of acoustic systems, which we used to consider a compromise between quality, compactness and ease of use. Well, we have a chance to see in practice how well the manufacturer managed to cope with the stated task.
The kit includes brackets for attaching soundbar to the wall or to TV
Before describing the quality of playing Artison Studio 55 , we say a few words about its design. First, we note the high versatility of this speaker. Like other soundbars, it is placed horizontally - under or above the TV, but at the same time it can be mounted both to the wall and to the TV itself - the manufacturer has provided for both possibilities by including brackets for both options in the kit.
Artison offers a wide range of grills for its AC
for full stylistic correspondence of the soundbar and TV, the manufacturer offers special custom grills, which can be made in strictly specified size, and also painted in strictly specified size and also painted in the desired color.
Switching terminals for all three channels
centrally located
The body of the Artison Studio 55 soundbar is made of extruded aluminium. This allows you to achieve high rigidity, while maintaining a small thickness of its walls - thus, the manufacturer managed to make the speaker cabinet compact (this is necessary for stylistic harmony with flat TVs) and get a fairly decent internal volume (which is important in order to cover the widest possible frequency range) .
The Artison Studio 55 has three sets of speakers. Each set consists of two branded bass/midrange drivers with carbon diaphragms and a Vifa XT tweeter (a model well known to connoisseurs). Each of these sets sounds its own channel (left, right, center) and operates in its own independent acoustic volume with a separate phase inverter. In addition, the Artison Studio 55 has additional tweeters at the ends to enhance the sense of space and scale of the soundscape - a feeling that in Artison is called the Total Involvement Experience.
We would like to note that already having some experience of listening to Artison acoustic systems, even before we started listening, we had quite high expectations for the quality of reproduction of this speaker. To conduct a correct assessment, we decided to make a small comparison of the Artison Studio 55 with one of the most popular passive soundbars Sonance SB46M, which is approximately in the same price category as the main character of our today's review.
as a “sparring partner” for Artison Studio 55, one of the most popular soundbars was selected - Sonance SB46M 9000
SNAAN elegant appearance with a very thin extruded aluminum cabinet housing three sets (one for each of the three channels) of drivers, consisting of two Kevlar woofers and a coaxial mid/high module. The speaker is equipped with a perforated metal grill and has a sliding design that allows you to achieve a width that matches the width of a flat-screen TV paired with a soundbar. Note that the sliding structure Sonance SB46M has a purely aesthetic mission - when the speaker cabinet is moved apart, the speakers remain in place.
Brief description:
Artison Studio 55 is a very unusual soundbar with a very attractive appearance, installation flexibility (special brackets allow you to mount it on the wall and on the flat TV cabinet) characteristics. Compared to other popular soundbar - Sonance SB46M - Artison Studio 55 has a much more balanced musical sound and the ability to build a truly massive soundscape.
Impression:
The first thing you want to pay attention to is the extraordinary scale of the sound panorama that it conveys. Probably, such a scale with a rather modest stereo base is due to the use of side tweeters that work on reflection from the walls. But the main thing is the result that the company's engineers managed to achieve. Sound images are drawn, albeit somewhat enlarged, but they are still localized quite clearly, and the transmission of the panorama as a whole is so effective that we can safely forgive a small loss in accuracy. I must say that the scale of spatial sound is typical not only for the transmission of multi-channel recordings, but also for stereo listening. In this case, it's a double-edged sword. For example, for a rock concert or a symphony orchestra, it is quite appropriate, but for chamber performances, I would like a little more spatial restraint. As for the second soundbar - Sonance SB46M , then the spatial characteristics of its sound are much more familiar. It does not give such a large-scale panorama as Artison, the sound in most cases does not go beyond the extreme points of the speakers.
Now let's turn to the frequency response and timbre sound fidelity. Artison Studio 55 has a very good sound balance. Of course, this soundbar cannot be called completely self-sufficient - the support of a high-quality subwoofer is more than desirable for it, but even without it Artison Studio 55 plays the frequency range down to the upper bass region.
Artison Studio 55 surprisingly musical. This quality, in fact, is not characteristic of soundbars in principle, but the hero of this review copes with the transfer of music very well - we would not call his sound a compromise. At the same time, Artison Studio 55 is capable of not only providing background sound and playing popular music genres. He is surprisingly good at both vocals and acoustic instruments. Of course, it cannot be said that the sound parameters fully correspond to the criteria of Hi-Fi equipment. In our opinion, 9The 0003 Artison Studio 55 sounds a little too cheerful, it tends to embellish the music being played a little, but the sound retains both intelligibility and detail - individual sounds do not mix into mush, and sources maintain a clear separation in space. Separately, we note the high load capacity of the Artison Studio 55. This soundbar is able to work with fairly powerful amplifiers and can play really loud. At the same time, the sound remains clear and balanced, only some sharpness appears at the upper frequencies.
The sound of the Sonance SB46M is much simpler than the Artison. It is more in line with our idea of the sound of soundbars. Timbres are transmitted quite schematically, sound images often merge into a single whole. Note that if Artison Studio 55 , albeit with a big stretch, it was still possible to listen without a subwoofer, then Sonance SB46M definitely requires an additional low-frequency foundation. When using a quality sub 9The 0003 Sonance SB46M performs well in movies, especially at high volumes, as it conveys harsh sounds such as shots, pops, impacts, etc. quite sharply. But for music, the Sonance SB46M is definitely not suitable - it tends to oversimplify timbres, and some of the sounds are completely lost. Note that just like Artison , Sonance SB46M has a high load capacity. You can't scare him with a powerful amplifier, even at a very high volume, he retains his sound characteristics and is not inclined to go into distortion, embarrassing listeners with shrill wheezing.
Another point to consider when choosing a soundbar is the vertical orientation. In Artison Studio 55 it is quite sharp, i.e. the soundbar is highly desirable to hang at the level of the viewer's ears. Otherwise, you will not get either the correct timbre balance or precise spatial localization, for which we praised this soundbar above. As for the Sonance SB46M , it allows for greater freedom of location. In any case, the difference in sound when located at different heights is not as noticeable as in the case of Artison .
Features:
Model | Artison Studio 55 |
Type | wall-mounted soundbar 3. 0, bass reflex |
Number of strips | 2 |
HF (mm) | 25 (per channel), additional 19 mm tweeters on ends |
MF (mm) | 2x89 (per channel) |
Frequency response (Hz) | 80-50k |
Sensitivity (dB) | 89 |
Impedance (ohm) | 6 |
Recommended amplifier power (W/ch) | 75-150 |
Color | black |
Dimensions HxDxW (mm) | 121x70x1374 |
Weight (kg) | n/a |
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Clinic LLC Medical Center "Harmony" was opened in May 2017. And already in such a short time establish themselves among patients. We are always ready to help in any matter, related to your health and the health of your family. It is important to us that our patients are also our associates. We help you in treatment, diagnosis and prevention various diseases, you make sure that you pass all the necessary examination, follow the instructions of the attending physician.
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