Latest news with #Trisomy18
Time Business News
23-05-2025
- Health
- Time Business News
Planning for Your Baby's Health: Non-Invasive Prenatal Screening and Stem Cell Collection Insights
Parenthood is a memorable journey filled with hopes and dreams for your baby's future. Early pregnancy health checks for your baby are now possible with the latest medical innovations, and even protect their future with special cells collected at birth. Two essential services many parents are choosing today are: Non-invasive prenatal screening (NIPS) — to check your baby's health early. — to check your baby's health early. Stem cell collection — to preserve life-saving cells from your baby's umbilical cord. Whether you're doing a simple prenatal test or planning to collect stem cells, First Stem Cell and Genomics Laboratory makes the process smooth, clear, and supportive. Non-invasive prenatal screening is a safe and simple test that helps determine whether your baby might have certain genetic conditions. NIPS helps give you peace of mind and more time to make decisions, especially if further testing or support is needed. Here's what makes NIPS a considerable decision by parents: It's done with a simple blood test from the mother — no risk to the baby. You can take the test as early as 10 weeks into pregnancy. It looks for common chromosome conditions like: Down syndrome (Trisomy 21) Trisomy 18 and Trisomy 13 Some sex chromosome disorders It provides accurate and early results, usually within 5 to 10 days. NIPS benefits parents who want more information about their baby's health without the stress of invasive procedures. Many expecting parents now prefer NIPS because it's: Risk-Free – No risk of needles near the baby – No risk of needles near the baby Easy Process – Just a small blood draw from the mother – Just a small blood draw from the mother Fast Turnaround – Quick results to ease your worries – Quick results to ease your worries High-Accuracy – Highly accurate for detecting certain conditions – Highly accurate for detecting certain conditions Doctor-recommended – Trusted by medical experts around the world Stem cell collection is a special process that happens at birth. It involves collecting blood samples from the umbilical cord containing powerful stem cells. These cells are like building blocks, as they can grow into different types of healthy blood and immune cells. Doctors already use them to treat many serious illnesses. Conditions treated with stem cells include: Leukemia and some other cancers Conditions affecting the blood, including sickle cell anemia and thalassemia Immune system disorders Research is ongoing for conditions like cerebral palsy and diabetes Saving stem cells is a way of planning and giving your family more medical options in case of future illness. Here's why many families are choosing stem cell collection: It's a one-time chance — the umbilical cord can only be collected at birth. The process is safe and painless for both baby and mother. These stem cells could be used in future treatments. They're a valuable medical resource, just like a health safety net for your child. Choosing where to do these tests is just as crucial as deciding. FSG is a trusted medical lab that offers non-invasive prenatal screening and stem cell collection services. Accurate testing with the latest medical technology Fast results that you can count on A friendly support team to guide you through every step Safe and professional collection of stem cells at birth Help with insurance and flexible, affordable plans Access to genetic counseling if you have questions about your results A trusted and precise test to learn about your baby's health during the first weeks of pregnancy. Talk to your doctor about getting NIPS. Visit a clinic or lab to give a blood sample. Wait 5–10 days for your results. Review the results with your doctor to understand the next steps. Sign up with FSG before your delivery. A trained professional collects the umbilical cord blood when your baby is born. The stem cells are safely stored in a secure facility. You'll receive confirmation that your child's stem cells are preserved for future use. Your baby's health begins before birth, and accurate insights give you more confidence to protect it. With non-invasive prenatal screening, you get valuable information early in your pregnancy. By choosing stem cell collection, you create a health resource that could be life-saving one day. Contact FSG today to learn more about our services, book your screening, or register for stem cell collection. With the support of a lab you can rely on, give your baby the healthiest possible start in life. TIME BUSINESS NEWS
The Citizen
14-05-2025
- Health
- The Citizen
Show love to Stepping Stone Hospice this Mandela Day
Stepping Stone Palliative Care Services' mission is to provide palliative care to both young and old patients with life-threatening illnesses, and they rely greatly on donations to continue offering dignity care. They are particularly passionate about supporting their children's unit in Raceview, which is home to vulnerable youngsters like Luloyamo Matsinye, fondly known as Lulo, who has been bravely battling Trisomy18, a rare genetic disorder. Despite the odds, Lulo has made remarkable progress under their care, and they are committed to ensuring that she and other young patients grappling life-limiting illnesses receive the support they need. However, Stepping Stone faces significant challenges in providing around-the-clock care to their children, who require specialised attention and support. That is why they are reaching out to companies to help them make a difference. Lulo was admitted to Parklands ICU in October 2024 for the whole month for seizures. 'It was then reported that her seizures were no longer controllable and we were probably at the end of her life because she was diagnosed with Edward's syndrome/Trisomy 18 at birth,' said Fikile Matsinye, her mother. 'This is a rare genetic disorder where a child is born with 47 chromosomes instead of 46. She has three sets of chromosome 18, hence it's called Trisomy 18.' She said this causes defects in the development of major organs. She was born with two holes in her heart, an underdeveloped brain, and other facial feature defects. 'She has miraculously survived it all without major surgery, unlike other children diagnosed with the same condition. Lulo is not using oxygen as anticipated. Her development has surprised her specialists, who believe she is a miracle baby,' Fikile said. Fast forward to November 2024, from Paediatric Intensive Care Unit, she was stepped down to the Stepping Stone Hospice, 'Where we thought she would not live much longer.' To everyone's surprise, she has never had a single seizure since then and has since recovered. 'Unfortunately, the medical aid authorisation was on the palliative care, and they reviewed the authorisation since her recovery. They started taking funds from the savings, which have now been depleted,' she explained. Unfortunately, children in Stepping Stones Palliative Care Centre's care require around-the-clock care because they cannot function independently. 'We would highly appreciate any form of sponsorship or donations. By sponsoring or adopting Stepping Stone this Mandela Day, you will be contributing to providing palliative care to children with life-threatening illnesses, supporting our children's unit, which cares for youngsters like Lulo and enabling us to continue our vital work,' said Tersia Burger, Stepping Stone Hospice founder and CEO. Contact them to learn more about how you can support the Hospice this Mandela Day on 010 442 5059 or email: fundraising@ At Caxton, we employ humans to generate daily fresh news, not AI intervention. Happy reading!
Forbes
15-04-2025
- Health
- Forbes
Healing Before Birth: How Genetic Screening Is Changing Lives
Advances in modern medicine allow us to treat fetuses and newborn babies for genetic or inherited ... More diseases. Advances in modern medicine allow us to treat fetuses and newborn babies for genetic or inherited diseases. Recent studies have expanded this capability from a small handful of conditions detected via heel stick tests to hundreds. A recent American Journal of Human Genetics study lists nearly 300 treatable fetal findings of actionable diseases. Public health experts recognize the long-term advantages of investing in genetic screening. Approximately 12,500 infants each year—children who might otherwise face severe disability or even death—are identified and given a chance at a healthier life. Genetic screening is universally beneficial and incredibly effective. This progress, however, starkly contrasts the limited options of the past. Modern prenatal screening employs non-invasive techniques to assess genetic risks in fetal development, enabling early detection of chromosomal conditions like Down syndrome and Trisomy 18, often in the first trimester. By analyzing fetal DNA fragments in a mother's blood, this method identifies potential genetic abnormalities and is safer than amniocentesis. For postnatal screening, the heel stick test has been the standard method for newborn screening for decades. It is performed 24 to 48 hours after birth and involves pricking a baby's heel to collect a blood sample, which is analyzed for metabolic, hormonal, and genetic disorders. This test is crucial for identifying conditions like hypothyroidism, phenylketonuria, and sickle cell disease, which may not present symptoms at birth but can lead to serious complications if untreated. By 2024, this heel prick test will have become as routine as a lullaby in 48 states and Washington, D.C., safeguarding 98% of newborns in the United States. While postnatal screening is essential, there is an increasing focus on empowering families with actionable insights even before birth. This includes providing a targeted list of treatable genetic disorders to guide pregnancy management, allowing for more effective gene therapy during fetal development when stem cells are more adaptable than post-birth treatments. The actionable interventions for the newly detectable conditions fall into several distinct categories, each offering transformative potential. Collectively, these treatments address immediate health concerns, dramatically enhance the quality of life and extend longevity for affected individuals. Gene therapy, including CRISPR and viral vectors, can correct genes responsible for specific conditions. Advanced delivery methods, such as nano-carriers, allow targeted therapy to fetal cells, improving effectiveness and minimizing complications compared to postnatal treatments. Early intervention can prevent permanent damage, with prenatal therapies showing success for conditions like spinal muscular atrophy. The emergence of FDA-approved gene therapies for beta-thalassemia and inherited blindness highlights the field's progress, with over 800 gene therapy programs worldwide improving patient outcomes. Effective medication management is crucial for addressing metabolic disorders identified through early screening. This process involves selecting and administering specific medications and dietary adjustments tailored to each individual's needs. These measures help alleviate symptoms and prevent long-term complications. Surgical interventions play a vital role in correcting congenital heart defects detected during infancy or childhood. When performed promptly, these surgeries can significantly improve long-term outcomes and enhance the quality of life for affected individuals. Immunotherapy, including bone marrow transplants and gene therapy, is essential for managing immune deficiencies such as severe combined immunodeficiency. Early diagnosis and intervention can save lives, restore immune function and enable individuals to participate more fully in their communities. The ability to diagnose and treat nearly 300 actionable genetic conditions in fetuses and newborns marks a significant milestone in modern medicine. From traditional heel stick tests to cutting-edge genomic sequencing, these advances empower families with critical information and life-saving options. As research continues to evolve, integrating these technologies into routine prenatal and neonatal care promises to redefine pediatric healthcare, offering hope for conditions once deemed untreatable.
