Latest news with #Edward'sSyndrome
The Sun
27-05-2025
- Health
- The Sun
Prenatal screening vs diagnostic tests explained
A screening test is carried out for a large group of low risk patients to find out if they are at high risk for a particular disease. It is not meant for those who have already been placed in the high risk category based on the existing factors such as age or racial risk group. In obstetrics, the most common screening test for chromosomal abnormalities, especially Down's Syndrome, is the Non Invasive Pregnancy Test. It is carried out after 10 weeks of pregnancy and offered by many companies and labs. Initially, it was an exclusive club of opportunity as the test used to be very expensive. But, as more samples are being sent to the lab, the cost is now more affordable. However, it is not a test for those in high risk groups. A first trimester ultrasound screening test for soft markers between 11 to 14 weeks is also a screening test for chromosomal abnormalities. This is a diagnostic test for large structural abnormalities at this gestation period. A diagnostic test is one that confirms if you have a disease or an issue. Examples in obstetrics for the diagnosis of structural abnormalities is a detail anomaly scan of the foetus between 18 and 22 weeks of pregnancy by an expert usually a maternal fetal medicine specialist. During this test, the structure of the foetus is looked carefully – from the head, brain, face, chest, heart, limbs, abdomen, kidneys, bladder, spine, cord and placenta are looked into for structural abnormalities. There will be some structures that will only show abnormalities later in the pregnancy. There are also some structures that function differently while the foetus is in the womb and will only change at birth, or shortly after that. When your doctor completes the examination, they would give you a report on the findings. Another one is chromosomal abnormalities. The most common of these are Down's Syndrome as these babies live until adulthood. Other common abnormalities include Potter's Syndrome, Edward's Syndrome and Turner's Syndrome. The two common diagnostic tests for these problems are Chorionic Villous Sampling (CVS) and amniocenthesis. CVS is usually carried out at 11 to 14 weeks of pregnancy, where the doctor will obtain a sample of the placental tissue through the abdomen or the vaginal route. However, this test is rarely carried out due to technical problems and higher risk to the pregnancy. The most common test for chromosomal abnormalities is amniocenthesis. It is advised for all high risk cases without doing any screening tests. It is a test carried out after 15 weeks of pregnancy. The simple test includes inserting a long but thin amniotic needle under the guidance of a continuous ultrasound examination. A small amount of amniotic fluid is taken out and sent to the lab. The whole procedure is carried out in the clinic within minutes and with minimal risk to the pregnancy. The sample is then sent to the lab. The most common analysis is karyotyping, where 23 sets of chromosome is examined. Any part of the chromosome that is less or more than 450–700 bph (depending on the lab) will be picked up. Microarray has many thousands of probes. It will pick up an excess or lack of these components suggesting chromosomal abnormalities, including micro deletions of the genetic material. The ultimate test is called the exome sequencing test to look for the protein coding regions of the gene. This will not only pick up chromosomal abnormalities, but also genetic diseases associated with an abnormal protein production that leads to abnormal functions in the body. However, with each added test, the cost will be much higher and not many can afford it. The choice is made on how far the patients want to go to ensure their baby is normal. This article is contributed by consultant obstetrician & gynaecologist, maternal fetal medicine Datuk Dr H. Krishna Kumar.
The Sun
27-05-2025
- Health
- The Sun
Determining risk factors
A screening test is carried out for a large group of low risk patients to find out if they are at high risk for a particular disease. It is not meant for those who have already been placed in the high risk category based on the existing factors such as age or racial risk group. In obstetrics, the most common screening test for chromosomal abnormalities, especially Down's Syndrome, is the Non Invasive Pregnancy Test. It is carried out after 10 weeks of pregnancy and offered by many companies and labs. Initially, it was an exclusive club of opportunity as the test used to be very expensive. But, as more samples are being sent to the lab, the cost is now more affordable. However, it is not a test for those in high risk groups. A first trimester ultrasound screening test for soft markers between 11 to 14 weeks is also a screening test for chromosomal abnormalities. This is a diagnostic test for large structural abnormalities at this gestation period. A diagnostic test is one that confirms if you have a disease or an issue. Examples in obstetrics for the diagnosis of structural abnormalities is a detail anomaly scan of the foetus between 18 and 22 weeks of pregnancy by an expert usually a maternal fetal medicine specialist. During this test, the structure of the foetus is looked carefully – from the head, brain, face, chest, heart, limbs, abdomen, kidneys, bladder, spine, cord and placenta are looked into for structural abnormalities. There will be some structures that will only show abnormalities later in the pregnancy. There are also some structures that function differently while the foetus is in the womb and will only change at birth, or shortly after that. When your doctor completes the examination, they would give you a report on the findings. Another one is chromosomal abnormalities. The most common of these are Down's Syndrome as these babies live until adulthood. Other common abnormalities include Potter's Syndrome, Edward's Syndrome and Turner's Syndrome. The two common diagnostic tests for these problems are Chorionic Villous Sampling (CVS) and amniocenthesis. CVS is usually carried out at 11 to 14 weeks of pregnancy, where the doctor will obtain a sample of the placental tissue through the abdomen or the vaginal route. However, this test is rarely carried out due to technical problems and higher risk to the pregnancy. The most common test for chromosomal abnormalities is amniocenthesis. It is advised for all high risk cases without doing any screening tests. It is a test carried out after 15 weeks of pregnancy. The simple test includes inserting a long but thin amniotic needle under the guidance of a continuous ultrasound examination. A small amount of amniotic fluid is taken out and sent to the lab. The whole procedure is carried out in the clinic within minutes and with minimal risk to the pregnancy. The sample is then sent to the lab. The most common analysis is karyotyping, where 23 sets of chromosome is examined. Any part of the chromosome that is less or more than 450–700 bph (depending on the lab) will be picked up. Microarray has many thousands of probes. It will pick up an excess or lack of these components suggesting chromosomal abnormalities, including micro deletions of the genetic material. The ultimate test is called the exome sequencing test to look for the protein coding regions of the gene. This will not only pick up chromosomal abnormalities, but also genetic diseases associated with an abnormal protein production that leads to abnormal functions in the body. However, with each added test, the cost will be much higher and not many can afford it. The choice is made on how far the patients want to go to ensure their baby is normal.
Daily Mail
22-04-2025
- Entertainment
- Daily Mail
EastEnders' Shona McGarty bags first new show since explosive soap exit - and it's worlds away from Walford
EastEnders star Shona McGarty has bagged first new show since her explosive soap exit last year - and it's worlds away from Walford. The actress, 33, left the BBC show in April last year after 16 years of playing her iconic alter-ego Whitney Dean. Since leaving EastEnders, the star has been able to pursue other things and has been busy in the recording studio and even presented a gong at the Beauty Awards in November. But fans will be happy to know that they'll be able to watch Shona perform as Bettie Page in Bettie Page, Queen of Pin-Ups – The Musical in June. The show will be on June 9 at Lyric Theatre in central London, running for 90 minutes with no interval, and tickets cost from £15. The synopsis reads: 'She Was Never The Girl Next Door. 'This revealing new bio-musical tells the story of the original revolutionary pin-up model, and pop culture icon, Bettie Page. 'All Bettie wants is to escape her circumstances and live a normal life, yet when she discovers glamour photography in the 1950s, all she wants is the right to be able to do it. 'Bettie's iconic status is born out of her fierce feminism and fight for personal liberties. 'Bettie Page, Queen of Pin-Ups – The Musical chronicles her quest for freedom of expression through seminal moments in history, original songs, and the greatest hits of the 50s and 60s.' Shona and the show's Instagram account announced the news by saying: 'Delighted to announce EastEnders star Shona McGarty as our very own Bettie Page. ' Many rushed to the comments section to share their excitement. One wrote: 'Oh this looks Fantastic would love to watch this. Looks good.' 'Amazing darling well done! Xxx.' Over the years Shona had been involved in a number of hard-hitting storylines including being groomed by her mum Bianca's boyfriend, her marriage to Lee Carter and her unborn baby being diagnosed with Edward's Syndrome 'Aww huge congrats Shona that's fab.' 'Omg an icon playing an icon! Congratulations.' This is totally different to her playing Whitney in EastEnders, a role she took on from the age of 16. But Shona is no stranger to the music industry, having performed live a number of times and regularly sharing videos of her showing off her incredible singing voice on social media. The star has also released a number of singles including A Change is Gonna Come, Rock with Rudolph and Let It Be. Over the years Shona had been involved in a number of hard-hitting storylines including being groomed by her mum Bianca's boyfriend, her marriage to Lee Carter and her unborn baby being diagnosed with Edward's Syndrome. Back in July 2023 it was revealed that Shona had quit her EastEnders role. A spokesperson for EastEnders told MailOnline: 'Shona is leaving, and bosses have decided to write the character of Karen out. We're not adding anything further at this stage.' Then in August she broke her silence telling Inside Soap Magazine: 'It wasn't an easy decision because I've made so many friends. 'I've seen people come and go, and meanwhile, Whitney has been one of the longest-standing characters. 'I've had so much fun and done so many storylines, some of which have been sensitive, and I've been honoured to be trusted with such heavy stuff, year after year.' In April last year she filmed her final scenes as her iconic alter-ego and later revealed the real reason why she quit. She told The Sun: 'It was a really difficult decision, because it's all I've ever known. I pretty much grew up on the Square, so I feel like I'm leaving home. But I had to put on my big girl pants and be quite brave, because life is so short, and you feel that more and more as you get older. 'There are other opportunities and areas of the industry I want to explore before I get too old! All things come to an end and this is the new chapter of my life. 'So although it was a big decision, once I'd made it, I was quite resolute that this was something I had to do. 'I mean, 16 years is amazing. I've had a really good run and Whitney needs a break.'
