Trisomy 21 – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ Sat, 01 Oct 2022 10:56:05 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 https://www.novascotiadownsyndromesociety.com/wp-content/uploads/2021/07/icon-2021-07-30T230350.091.png Trisomy 21 – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ 32 32 He’s downright perfect: Down syndrome is nothing to fear https://www.novascotiadownsyndromesociety.com/hes-downright-perfect-down-syndrome-is-nothing-to-fear/ Fri, 30 Sep 2022 22:02:00 +0000 https://www.novascotiadownsyndromesociety.com/hes-downright-perfect-down-syndrome-is-nothing-to-fear/ DSACO’s annual fundraiser, The Columbus Buddy Walk, takes place Sunday, October 2 at Obetz Fortress. COLUMBUS, Ohio — The Down Syndrome Association of Central Ohio aims to support new parents and educate them about the special needs of their child. DSACO works tirelessly to raise awareness of the disease, so parents know that Down Syndrome […]]]>

DSACO’s annual fundraiser, The Columbus Buddy Walk, takes place Sunday, October 2 at Obetz Fortress.

COLUMBUS, Ohio — The Down Syndrome Association of Central Ohio aims to support new parents and educate them about the special needs of their child.

DSACO works tirelessly to raise awareness of the disease, so parents know that Down Syndrome is nothing to worry about, even if you’re a teenage single mom.

Having a child with special needs can be daunting for anyone, let alone a high school student. But Aniya Coady says the diagnosis didn’t shock her.

On the day of her ultrasound, Coady thinks she was given a sign of things to come.

“I was going through my [social media] feed and saw a whole bunch of Down syndrome posts. So I’m like, ‘why am I seeing this all of a sudden?’ Said Coady. “I felt like something was going to happen, considering I saw all those messages before I went on the date.”

So when the young mum-to-be learned her unborn child was likely to have trisomy 21, the most common form of Down syndrome, she remained calm.

“The tech’s face just fell off, I guess she noticed the markers,” Coady told 10TV.

Aniya’s mother, Christina Watkins, says the situation was scary, but not because her daughter was pregnant. It was scary because she didn’t want her daughter to reject the baby.

“Your life doesn’t end with this disability,” says Watkins. ” You can continue. Aniya can be a mother and continue her studies.

At 16, Aniya embraced motherhood and all of her responsibilities with a little help from DSACO.

“They’re amazing,” Coady said. “DSACO helps with whatever it can. They even show up for hospital visits.

There are a lot of hospital visits. Cameron is now 18 months old and has already had three surgeries. Health issues keep him in and out of hospital.

Coady is just grateful to have both her birth family and her DSACO family to lean on. Coady and her mother know firsthand that a diagnosis of Down syndrome is nothing to worry about.

“Cameron is a blessing,” Watkins said. “Any child with Down syndrome is a blessing.”

DSACO’s annual fundraiser, The Columbus Buddy Walk, takes place Sunday, October 2 at Obetz Fortress. Whether you have Down syndrome, know someone who does, or just want to show your support, you can donate to the fundraiser or register for the walk here.

Local News: Recent Coverage ⬇

https://www.youtube.com/watch?v=videoseries

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Fans will twirl poi in support of wāhine toa at Rugby World Cup 2021 » allblacks.com https://www.novascotiadownsyndromesociety.com/fans-will-twirl-poi-in-support-of-wahine-toa-at-rugby-world-cup-2021-allblacks-com/ Wed, 21 Sep 2022 04:06:32 +0000 https://www.novascotiadownsyndromesociety.com/fans-will-twirl-poi-in-support-of-wahine-toa-at-rugby-world-cup-2021-allblacks-com/ Rugby World Cup 2021 today launched a movement to unite rugby fans to spin poi in support of the wāhine toa who will take part in the tournament from October 8. Wā Poi (It’s Poi Time) aims to inspire, educate and unite rugby fans around the world through the poi, a unique taonga (treasure) with […]]]>

Rugby World Cup 2021 today launched a movement to unite rugby fans to spin poi in support of the wāhine toa who will take part in the tournament from October 8.

Wā Poi (It’s Poi Time) aims to inspire, educate and unite rugby fans around the world through the poi, a unique taonga (treasure) with special meaning to Aotearoa New Zealand and a symbol of wāhine toa (women’s champions ).

Poi is the name of both Māori performance art, most commonly seen by wāhine in Kapa Haka, and objects twirled during performance. Originally made from harakeke (New Zealand flax) and raupō, they are now commonly made from a variety of modern materials including woven fabrics, wool, foam and even paper .

Poi were traditionally used by warriors to limber up their wrists in preparation for battle. In recent times, poi have become commonplace in schools and kura around the motu, with tamariki making poi and performing. Twirling poi can also be a way to build unity as a group in the way they create rhythm when swung in the hand.

The Wā Poi (It’s Poi Time) movement is designed to create an unforgettable atmosphere in stadiums, filling the stands with the unique sights and sounds of poi, reflecting the beating heart of Aotearoa and sharing the beauty of Te Ao Māori with the world.

Key to the development of Wā Poi and guarantee that he is tikanga (culturally correct).

Dr Farah Palmer ONZM, former captain of the Black Ferns, member of the New Zealand Rugby Board and chair of the New Zealand Māori Rugby Board, said: “We are proud and delighted to have worked with some of Aotearoa New Zealand’s masters in the art of poi. . Their guidance and support means we can share this taonga in a way that is tika (culturally correct) and in a way that we hope will unite and inspire nations to support their teams. Using poi will allow them to support poi rere (flying poi) and the resonant sounds of poi paki (percussive poi) in an exciting and unique visual way. As someone who enjoyed poi in kapa haka as a teenager, I’m really looking forward to being a part of this poi-formance.

Rugby World Cup 2021 has also worked closely with stadium venues and security to prepare rugby fans to bring the energy with poi and create a truly unique and engaging tournament experience.

Rugby World Cup 2021 Tournament Director Michelle Hooper said: “Poi holds such a special place in the hearts and minds of New Zealanders, with many of us learning to do and do turn the poi at a young age. They are a Maori taonga (treasure) and a beautiful representation of our mana wāhine. Wā Poi is therefore a fitting way for fans to show their support for the women participating in this tournament.

“We look forward to seeing stadiums filled with the sights and sounds of poi as the world looks on us from October to November and we hope that will continue as a legacy for how we show our support for the women’s sport in the years to come.

Poi will be made available free of charge to fans upon entering the stadium each match day from 8 October to 12 November. Thousands of poi are produced by a range of local suppliers, with Rugby World Cup 2021 focusing on working with growing Maori businesses and using sustainable materials.

Among them is the Ōtepoti Dunedin-based start-up, Pōtiki Poi, owned and operated by 16-year-old Georgia Latu (Kaitahu whānui, Ngāpuhi Nui Tonu) and her māmā Anna. Georgia started the business three years ago, making recycled poi in her living room, in an effort to support her youngest brother born with Down’s syndrome. Pōtiki translates to youngest child, acknowledging his sibling and ancestor Tahu Potiki. Since then, the business has gone from strength to strength, with Georgian poi now being sold in Countdown supermarkets across the country.

Georgia Latu, Managing Director of Pōtiki Poi, said: “Making poi for Rugby World Cup 2021 has been such an exciting historic opportunity. Thank you to all my whānau and friends who handcrafted each poi. ‘Ehara taku toa i te toa takitahi, engari he toa takitini’ – Success is not the work of one individual, but the work of many.

Special, a leading independent creative company, has produced a series of educational videos featuring contemporary Maori performance artist and award-winning musician Pere Wihongi, Black Ferns Maiakawanakaulani Roos, Charmaine McMenamin, Sylvia Logo-i-pulotu Lemapu Atai’ i Brunt, RWC 2021 Champions including K’Lee McNabb, Jay Reeve and Tammy Davis, Tom Robinson, Patrick Tito Tuipulotu, Tupou Neiufi, Ally Mayerhofler, Brook Ruscoe, Te-Rina Gregory-Hawke and a number of local school children. The videos aim to educate fans on the correct and respectful use of poi, show how fans can create their own DIY poi at home, and generate support for the movement among fans around the world.

A community engagement program will see schools, kura, community groups and holiday programs involved in poi making as part of the movement.

Do-it-yourself poi-making workshops will also be run by Poi Yeah – a whanau-owned small business run by Te-Rina Gregory-Hawke on matchdays at Tāmaki Makaurau Auckland, and by Jasmine Codlin-Henare of FlaxMaiden at Northland Events Center.

The 2021 Rugby World Cup takes place in New Zealand from October 8 to November 12, the first time the showpiece event has taken place in the Southern Hemisphere. It is the world’s biggest event in women’s rugby at 15 and will be contested by the world’s top 12 teams at three match venues – Eden Park, Waitākere Stadium and Northland Events Centre.

Incredible performances celebrating wāhine toa in music and sports will create a spectacular entertainment showcase with renowned artists Rita Ora, BENEE and Shapeshifter on stage at Eden Park. Rita Ora will perform first on the day of the opening match on Saturday, October 8, followed by Shapeshifter in the semi-finals on Saturday, November 5, and BENEE the last title to perform in the finals on Saturday, November 12.

Accessible ticket prices start from just $5 for children and $10 for adults*. For more information and to buy tickets, go to https://tickets2021.rugbyworldcup.com

*Prices applicable to cash purchases made through agents or Ticketek outlets. Online purchases may incur additional payment processing and delivery charges.

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Local toddler makes his Jumbotron debut in Times Square https://www.novascotiadownsyndromesociety.com/local-toddler-makes-his-jumbotron-debut-in-times-square/ Sat, 17 Sep 2022 00:57:13 +0000 https://www.novascotiadownsyndromesociety.com/local-toddler-makes-his-jumbotron-debut-in-times-square/ SHREVEPORT, La. (KTAL/KMSS) — A local toddler born with Down syndrome is about to step onto a huge screen: a Jumbotron in Times Square. Oliver Schwab is an 18 month old twin. He and his brother, Parker, were born five weeks early amid the COVID-19 pandemic. “Oliver was born with trisomy 21, which is Down […]]]>

SHREVEPORT, La. (KTAL/KMSS) — A local toddler born with Down syndrome is about to step onto a huge screen: a Jumbotron in Times Square.

Oliver Schwab is an 18 month old twin. He and his brother, Parker, were born five weeks early amid the COVID-19 pandemic.

“Oliver was born with trisomy 21, which is Down syndrome and he had two heart defects, so he had two different holes in his heart,” said his mother, Kelsey Schwab.

Shortly after being diagnosed with Down syndrome, Oliver had to undergo open-heart surgery at just six weeks old.

“He’s very strong,” Kelsey said.

In April, Kelsey submitted a photo of Oliver to the National Down Syndrome Society as he marked one year since his heart repair.

A few months later, she learned that he had been chosen to appear on the Jumbotron in Times Square on Saturday.

The video will be featured as part of the National Down Syndrome Society’s annual NYC Buddy Walk.

“We’ve had, I think, almost 2,500 submissions this year that are sent in via photos of loved ones with Down syndrome,” said Kandi Pickard, president and CEO of the National Down Syndrome Society. “We have to reduce that number to 500, which is very difficult and very difficult to do.”

Oliver’s father, a teacher at CE Byrd High School, says they’ve all had a very difficult year, so the selection couldn’t have come at a better time.

“A reward, I guess, for going through what we had to go through,” Nathan Schwab. “We’re not trying to say we’re special or anything, a lot of parents with Down syndrome have similar issues. We feel very lucky that this opportunity has come our way.

But now Kelsey and Nathan can finally breathe a sigh of relief.

“He’s just healthy and happy,” Kelsey says.

“The blessing that comes with it is that it might not be what you want, but it’s definitely what you need,” Nathan said.

The Times Square video will air in alphabetical order by last name.

You can watch it live on the National Down Syndrome Society Facebook page Saturday morning.

Oliver will be on the big screen from 10:10 a.m. to 10:20 a.m. ET.

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The Global Non-Invasive Prenatal Testing Market is Expected to Grow at https://www.novascotiadownsyndromesociety.com/the-global-non-invasive-prenatal-testing-market-is-expected-to-grow-at/ Thu, 15 Sep 2022 15:46:00 +0000 https://www.novascotiadownsyndromesociety.com/the-global-non-invasive-prenatal-testing-market-is-expected-to-grow-at/ The non-invasive prenatal test (NIPT) is a method to determine the risk of the mother’s fetus being born with certain genetic abnormalities. NIPT is a highly safe and effective means of screening for abnormal conditions such as Down’s Syndrome, Edwards’ Syndrome, Patau’s Syndrome, Monosomy X, and Turner’s Syndrome. Currently, there are two types of NIPT […]]]>

The non-invasive prenatal test (NIPT) is a method to determine the risk of the mother’s fetus being born with certain genetic abnormalities. NIPT is a highly safe and effective means of screening for abnormal conditions such as Down’s Syndrome, Edwards’ Syndrome, Patau’s Syndrome, Monosomy X, and Turner’s Syndrome.

Currently, there are two types of NIPT methods that are available, massive parallel sequencing (MPS) technology and single nucleotide polymorphism (SNP) based method.

Growing shift towards cell-free DNA testing

The discovery of cell-free DNA (cfDNA)-based NIPT has created a rapid shift in the paradigm of aneuploidy screening in pregnancy. This is a simple blood test that can be done during pregnancy. Clinical validation studies suggest that NIPT is more accurate than combined first trimester screening (CFTS), with very high sensitivity (99.3%) and specificity (99.9%) for trisomy 21 (trisomy 21 syndrome). Down). NIPT is also safer than other invasive diagnostic techniques such as chorionic villus sampling and amniocentesis, which carries a risk of miscarriage (0.1-0.2%).

Development of advanced medical technologies for NIPT products

The development of next-generation sequencing technology has enabled the sequencing of fetal DNA fragments that can be assembled into a complete genetic map, allowing the fetal genome to be scanned prenatally and non-invasively. Developments in molecular technologies and the discovery of cell-free fetal DNA in maternal plasma have also led to new methods of screening for fetal chromosomal aneuploidies.

Currently, various types of NIPT tests are available in the market such as Panorama, Vistara, MaterniT GENOME, Harmony Test, among others, which help in the detection of chromosomal abnormalities developing in the fetus. In addition, several recent developments have had an impact on the quality of care for pregnant women such as:

• In January 2022, QIAGEN entered into collaborations with Atila BioSystems to provide non-invasive prenatal testing (NIPT) solutions to the QIAGEN dPCR franchise.
• In June 2021, Illumina and Next-generation Genomic Thailand announced the launch of VeriSeq NIPT Solution v2 based on next-generation sequencing (NGS) in the country, which helps detect abnormalities missed by targeted testing.

“Prenatal care is a dynamic and constantly evolving field. The development of new molecular technologies and the discovery of cell-free fetal DNA are fueling groundbreaking advances to improve care for mother and child and to provide parents with options reproduction.”-Senior Director, Head of R&D Department, Sequencing & Array-based Company, USA

Key Market Challenges: Non-Invasive Prenatal Testing Market

Some of the major challenges limiting the growth of the global non-invasive prenatal test market are stringent government regulations and limitations of NIPT such that despite its high accuracy, it is still considered as a screening test.

Geographical analysis: North America is the largest market for non-invasive prenatal tests

North America is the largest non-invasive prenatal testing market with >45% revenue share, followed by Europe. The increasing prevalence of genetic disorders in newborns coupled with increasing maternal age, wider adoption and the presence of major players working on fetal and neonatal care in this region are some of the major factors that drive the North American market. The market for non-invasive prenatal tests in Europe is expected to grow rapidly over the forecast period owing to adoption of latest technologies, new product launches and strong reimbursement framework for such tests in these regions. The Asia-Pacific region is expected to experience the strongest growth in the coming years.

Competitive Landscape Analysis: Non-Invasive Prenatal Testing Market

Some of the established players operating in the global non-invasive prenatal testing market are Agilent Technologies, BGI Genomics, Cradle Genomics, Berry Genomics, Sequenom, Roche (Ariosa Diagnostics), etc.

Obtain in-depth insights of Non-Invasive Prenatal Testing Market with TOC Report @ https://meditechinsights.com/non-invasive-prenatal-testing-market/

Ruta Halde
Partner, Medi-Tech Insights
+32 498 86 80 79
info@meditechinsights.com
https://meditechinsights.com/

Medi-Tech Insights is a business research and analytics company focused on healthcare. Our clients include Fortune 500 companies, blue chip investors and hyper-growth start-ups. We have successfully completed more than 100 projects in digital health, health informatics, medical technology, medical devices and pharmaceutical services.

This press release was published on openPR.

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Noninvasive Prenatal Testing Market Size, Share, and Trend Analysis Report by Gestation Period, by Pregnancy Risk, by Method, by Technology, by Product, by Application, by End-Use, by Region & Region segment forecast, 2022 https://www.novascotiadownsyndromesociety.com/noninvasive-prenatal-testing-market-size-share-and-trend-analysis-report-by-gestation-period-by-pregnancy-risk-by-method-by-technology-by-product-by-application-by-end-use-by-region-region/ Tue, 13 Sep 2022 15:04:00 +0000 https://www.novascotiadownsyndromesociety.com/noninvasive-prenatal-testing-market-size-share-and-trend-analysis-report-by-gestation-period-by-pregnancy-risk-by-method-by-technology-by-product-by-application-by-end-use-by-region-region/ ReportLinker Noninvasive Prenatal Testing Market Size, Share, and Trend Analysis Report by Gestation Period, by Pregnancy Risk, by Method, by Technology, by Product, by Application, by End-Use, by Region & Region segment forecast, 2022-2030 New York, Sept. 13, 2022 (GLOBE NEWSWIRE) — Reportlinker.com announces the release of the report “Non Invasive Prenatal Testing Market Size, […]]]>

ReportLinker

Noninvasive Prenatal Testing Market Size, Share, and Trend Analysis Report by Gestation Period, by Pregnancy Risk, by Method, by Technology, by Product, by Application, by End-Use, by Region & Region segment forecast, 2022-2030

New York, Sept. 13, 2022 (GLOBE NEWSWIRE) — Reportlinker.com announces the release of the report “Non Invasive Prenatal Testing Market Size, Share & Trends Analysis Report By Gestation Period, By Pregnancy Risk, By Method, By Technology, By Product , by Application, by End Use, by Region and Segment Forecast, 2022 – 2030” – https://www.reportlinker.com/p06318486/?utm_source=GNW

Non-Invasive Prenatal Testing Market Growth and Trends

The global non-invasive prenatal testing market size is expected to reach USD 7.71 billion by 2030, growing at a CAGR of 9.61% from 2022 to 2030. Rising incidence of chromosomal abnormalities is expected to accelerate market growth. Of all countries, there is a substantial opportunity in China for non-invasive prenatal screening, with nearly 14.65 million births annually and a growing number of high-risk pregnancies.

Also, India has a heavy burden of genetic diseases. Various studies have suggested that chromosomal abnormalities are found with a frequency of 1 in 166 newborns in the country, while trisomy 21 (Down syndrome) has a high incidence rate of 1 in 800 births, resulting in the birth than 32,000 newborn babies with Down syndrome each year.

Families can benefit from accurate and early screening using the NIPT to learn about their baby’s genetic problem. Thus, this high incidence rate is expected to drive demand for prenatal testing.

With COVID-19 lockdowns, NIPT has gained attention because it offers high-accuracy screening with minimal risk of infection compared to invasive procedures such as chorionic villus sampling and amniocentesis, which can both require hospitalization and put patients and healthcare professionals at risk of contracting the COVID-19 infection. Additionally, there was an increase in demand for NIPT prescription; however, it was limited to a smaller number of eligible people due to lack of infrastructure and the adoption of telemedicine facilities in most countries.

The reimbursement scenario for non-invasive prenatal screening is highly variable. However, government support and favorable insurance policies are driving the market growth.

For example, in the Netherlands, prenatal screening fees are fully reimbursed in the second trimester, leading to increased uptake of these tests. Rising government initiatives to encourage the bio and pharmaceutical industry in emerging economies such as India and China are expected to drive the demand for non-invasive prenatal screening solutions and services.

The major players in the market are focusing on the development of new products to strengthen their product portfolios and offer innovative products to their customers. In March 2020, Agilent Technologies launched three new DNA chips to support prenatal and postnatal research in cytogenetics laboratories.

Probes on cyto microarrays provide high-resolution detection of copy number variation and loss of copy-neutral heterozygosity related to neuropsychiatric disorders, developmental delay, intellectual disability, and birth defects in human specimens. Constitutional DNA.

Noninvasive Prenatal Testing Market Report Highlights
• By gestation period, 13-24 weeks led the market in 2021 due to the peak number of non-invasive prenatal procedures performed in the second trimester of pregnancy
• The low risk pregnancy risk segment is expected to grow significantly over the forecast period. Government support such as budget allocation for medium risk pregnancies has contributed to segment growth
• Based on product, the cell-free DNA in maternal plasma testing segment accounted for the largest revenue share in 2021. Cell-free DNA is increasingly used to predict the risk of genetic disorders in healthcare prenatal via various genetic analyzes
• Asia-Pacific is expected to show the highest CAGR during the forecast period. Rising maternal age and improved healthcare infrastructure are expected to enhance market growth
• North America led the market in 2021 due to high R&D investments, presence of advanced healthcare institutions and development of whole genome sequencing
Read the full report: https://www.reportlinker.com/p06318486/?utm_source=GNW

About Reportlinker
ReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need – instantly, in one place.

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CONTACT: Clare: clare@reportlinker.com US: (339)-368-6001 Intl: +1 339-368-6001
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Disability Could Not Deter Gujarat Rubber Girl From Excelling In Yoga https://www.novascotiadownsyndromesociety.com/disability-could-not-deter-gujarat-rubber-girl-from-excelling-in-yoga/ Sat, 10 Sep 2022 16:13:00 +0000 https://www.novascotiadownsyndromesociety.com/disability-could-not-deter-gujarat-rubber-girl-from-excelling-in-yoga/ Special | Known as ‘Rubber Girl’, 14-year-old Anvi, who has 75% intellectual disability and Down syndrome, met Prime Minister Narendra Modi in Delhi on Saturday in an emotional moment. Yoga has changed Anvi’s life against all odds. Anvi’s father, Vijay Janjarukia said that we lost all hope in life when one day my wife learned […]]]>
Special | Known as ‘Rubber Girl’, 14-year-old Anvi, who has 75% intellectual disability and Down syndrome, met Prime Minister Narendra Modi in Delhi on Saturday in an emotional moment. Yoga has changed Anvi’s life against all odds. Anvi’s father, Vijay Janjarukia said that we lost all hope in life when one day my wife learned that Anvi was sleeping by touching her shoulder as it relieved her of pain. That day, I saw the flexibility of his body and encouraged him to do yoga. He said his dependence on medication has decreased thanks to the practice of yoga. He underwent open heart surgery and is currently suffering from a leaky mitral valve. He has large bowel disability due to trisomy 21 and rigid vasculature. He also has difficulty speaking. Her mother Avani Janjarukia said yoga gave our daughter new life. Every day, she practices yoga for an hour in the morning and evening. She performed with other ordinary children in competitions and won many prizes. Anvi from Surat, Gujarat suffers from Down Syndrome with 75% intellectual disability. He had won the Prime Minister’s National Children’s Award on January 24 this year. He was accompanied by his parents, who had arrived in Delhi from Surat to attend an event on Thursday, then contacted the Prime Minister’s Office with a request to meet the Prime Minister. and a letter of confirmation from the Prime Minister’s office. They were surprised when the phone rang. Anvi’s father, Vijay Janjarukia, said it was a dream come true. It was probably the happiest day of her life, when she met PM Modi and did yoga in front of him. She said she calls Prime Minister Narendra Modi “Namo Dada”.

Anvi did yoga in front of the Prime Minister during the meeting, the Prime Minister also appreciated her efforts and blessed her for a bright future. He promised to meet him the next time he came to Gujarat. Building. He is a very down to earth person. During the meeting, Prime Minister Modi’s signature was also found on his National Award Certificate for the Prime Minister’s Child.

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Meet Rubber Girl Anvi, a yoga and flexibility pro, who met PM Modi https://www.novascotiadownsyndromesociety.com/meet-rubber-girl-anvi-a-yoga-and-flexibility-pro-who-met-pm-modi/ Sat, 10 Sep 2022 07:00:00 +0000 https://www.novascotiadownsyndromesociety.com/meet-rubber-girl-anvi-a-yoga-and-flexibility-pro-who-met-pm-modi/ Image source: TWITTER/ HTTPS://TWITTER.COM/ANI A 14 year old girl Anvi with her father Vijay Zanzarukia. A 14-year-old girl, Anvi, who suffers from Down syndrome with 75% intellectual disability, met Prime Minister Narendra Modi today. She is known as the Rubber Girl, due to her flexibility despite her medical conditions. Anvi’s father, Vijay Zanzarukia, said of […]]]>
Image source: TWITTER/ HTTPS://TWITTER.COM/ANI A 14 year old girl Anvi with her father Vijay Zanzarukia.

A 14-year-old girl, Anvi, who suffers from Down syndrome with 75% intellectual disability, met Prime Minister Narendra Modi today. She is known as the Rubber Girl, due to her flexibility despite her medical conditions.

Anvi’s father, Vijay Zanzarukia, said of her talent, “We had lost all hope in life, then we discovered Anvi’s flexibility. Yoga gave her new life. It’s like a dream come true. It was perhaps the greatest day of her life when she met PM Modi today and did yoga in front of him.”

“Yoga has been a godsend, she practices yoga every day for an hour in the morning and again in the evening. In competitions she has performed with other normal children and has won several awards.” Anvi’s mother, Avani Zanzarukia, responded.

She underwent open heart surgery and is currently suffering from a leaky mitral valve. She suffers from a disability in the large intestine due to trisomy 21 and a severe spring illness. She also has difficulty speaking.

Anvi, a resident of Surat, Gujarat, suffers from Down Syndrome with 75% intellectual disability. She won Pradhan Mantri Rashtriya Bal Puraskar on January 24 this year.

She was accompanied by her parents who arrived in Delhi from Surat to participate in an event on Thursday, later they approached the Prime Minister’s office with a request to meet the Prime Minister and they were astonished after receiving a call from the Prime Minister’s office confirming their meeting.

“It’s like a dream come true. It was perhaps the best day of her life when she met Prime Minister Modi and did yoga in front of him,” Anvi’s father Vijay Zanzarukia said.

He added that she calls Prime Minister Narendra Modi “Namo Dada”. During the meeting, she did yoga in front of him, the PM also appreciated her efforts and blessed her with a great future. He promised to meet her next time he comes to Gujarat.

“It was like we were sitting with a family member and he (PM Modi) interacted with Anvi and said he would tell Maan ki Baat about her. He is a very grounded person with a great gesture,” he said.

During the meeting, she also got PM Modi’s signature on her Pradhan Mantri Rashtriya Bal Puraskar certificate.

Also Read: Karnataka: Akshar Yoga Research Center Creates Guinness World Record in Dhanurasana

latest news from india

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Experimental therapy improves cognitive abilities of people with Down syndrome | Company https://www.novascotiadownsyndromesociety.com/experimental-therapy-improves-cognitive-abilities-of-people-with-down-syndrome-company/ Tue, 06 Sep 2022 00:30:00 +0000 https://www.novascotiadownsyndromesociety.com/experimental-therapy-improves-cognitive-abilities-of-people-with-down-syndrome-company/ Puberty marks the onset of cognitive decline in many people with Down syndromeNayeli Cruz A group of European researchers with a notable Spanish presence discovered that a fundamental hormone for reproduction also improves cognition in people with Down syndrome. After discovering a series of deficiencies in the hormonal mechanism in mice with the same genetic […]]]>
Puberty marks the onset of cognitive decline in many people with Down syndromeNayeli Cruz

A group of European researchers with a notable Spanish presence discovered that a fundamental hormone for reproduction also improves cognition in people with Down syndrome. After discovering a series of deficiencies in the hormonal mechanism in mice with the same genetic alteration as humans, they injected them with a synthetic version of the hormone. The rodents improved on various cognitive tests. Then it was the turn of a small group of humans; with the same promising result. The authors, who published their research in Scienceand other experts urge caution, as their findings will need to be replicated in larger groups.

Gonadotropin-releasing hormone (GnRH) activates a complex mechanism in the brain, releasing two other hormones that act on the testicles and ovaries. Its levels skyrocket at puberty. Already in adulthood, the action of GnRH causes the production of testosterone and sperm in males of all mammals and after the maturation of the ovarian follicle and the production of eggs in females. In children born with an extra copy of chromosome 21 (another name for Down syndrome is Trisomy 21), the expression of this hormone is comparable to that of children without this genetic alteration. But everything changes when puberty arrives. Subsequently, adults with Down syndrome show a deficiency in the release of this hormone, which leads to infertility.

But does GnRH have other functions? For years it was suspected that the neurons that release it did more than regulate the reproductive system, but it was unclear what. One of those who have been trying to find out for several years is Vincent Prévot, director of the Laboratory of Development and Plasticity of the Endocrine Brain at the University of Lille (France). Three things in particular intrigued him, he wrote in an email: “First, that patients with Down syndrome are able to perceive smells during childhood, but lose them during adolescence. Of them; Cognitive abilities are fairly comparable between healthy and Down’s syndrome children, but cognitive decline accelerates after puberty. And three, that five genes that code for microRNAs reside on chromosome 21 [these are key RNAs in the control of gene expression] and among them four were known to be enriched in GnRH neurons”. Something happens when puberty comes with this hormone.

“Cognitive abilities are quite comparable between healthy children and those with Down syndrome, but cognitive decline accelerates after puberty”

Vincent Prévot, University of Lille (France)

To remove so many doubts, they also used mice with Down syndrome, in their case Trisomy 16 (rodents have a slightly different chromosomal configuration than humans). As in humans, at birth the pups did not show large differences in GnRH expression compared to another group of rodents without the extra chromosome. “But, when we examined GnRH expression during postnatal development, we found that not only did hormone expression decrease in young adult mice with Down syndrome, but also that in other mice, GnRH neurons sent projections to areas other than the hypothalamus involved in the control of reproduction, such as brain regions involved in cognition and memory, the cortex, and the hippocampus, respectively, and that these cortical projections had been lost in mice with Down syndrome,” says Prévot, co-lead author of the research.

The Spanish researcher María Manfredi is the first author of the study, which she conducted during her scholarship stay at the University of Lille. “Loss of smell with age, infertility and cognitive decline are all part of Down syndrome,” he says. “Prévot was convinced of the link with the GnRH hormone,” he adds. Manfredi and the rest of the team verified in mice that another population of GnRH neurons different from that in charge of reproduction carried their connections to other areas of the brain. Logic paved the way: using the hormone, of which there are synthetic versions on the market, to restore its levels in rodents. They placed a tiny pump that releases the molecule in pulses, just like the body does. “And we saw that the cognition of mice with Down syndrome improved,” explains the scientist, now from the University of Seville and the Institute of Biomedicine of Seville.

“For the first time, it has been demonstrated that [the hormone GnHR] has projections in the cerebral cortex and hippocampus, keys to several cognitive abilities”

Manuel Tena-Sempere, investigator from the University of Córdoba

Manuel Tena-Sempere supervised Manfredi’s thesis at the University of Cordoba and it was he who encouraged her to follow Prévot. “Yours is a world reference laboratory,” he says. Also co-author of the study, Tena-Sempere specifies: “GnRH is a very rare type of specialized neuron, with about 2,000. It is highly conserved in different species, with the same function in all mammals. It was suspected that he had another function. For the first time, it is shown to have projections in the cerebral cortex and hippocampus. By reversing the deficit of this hormone, cognitive improvement occurs. If it happens in mice, what happens in humans?

This is the last part of the investigation and the shortest, but perhaps the most promising. Having proven the cognitive function of GnRH and intellectual enhancement by balancing it in an animal model, the scientists took it a step further, they wanted to inject the hormone into people with Down syndrome. This part of the study was conducted by the neuroendocrine specialist of the University Hospital of Lausanne (Switzerland) Nelly Pitteloud, an expert in human GnRH neurons. It was not easy for them to recruit a group with trisomy 21. They had to be adults (when the hormonal alteration is more important) and men, because the release in women is more complicated and can affect their menstrual cycle and their fertility. They managed to recruit seven, who received GnRH pulses every two hours for six months.

“Together they improved their cognition by 30%.”

Nelly Pitteloud, neuroendocrine specialist at the Lausanne University Hospital (Suiza)

Six of the seven improved all the cognitive tests they were given: visuospatial function (ability to think in three dimensions), executive function, attention, episodic memory and verbal comprehension. As for the seventh, “we observed an improvement in certain cognitive abilities mainly driven by the improvement of visuo-spatial abilities, executive functions and attention”, specifies Pitteloud. Although it is not easy to express the improvement in numbers, the Swiss researcher maintains that “overall, they improved their cognition by 30%”.

Hanne Hoffmann is a scientist at Michigan State University (USA). Unrelated to the study, she also posted a commentary on her findings in Science . In Hoffmann’s laboratory, the main focus is on the release of hormones. Asked about the possible uses of this new therapy, she wrote in an email: “GnRH is already used to treat certain types of infertility. Based on the study results, pulsatile release of the hormone could be a new treatment for various types of cognitive disorders that may be associated with a functional reduction in GnRH, such as Alzheimer’s disease or Down syndrome. . age and “abnormal or reduced release of GnRH is often associated with mental decline with age, its administration could serve to delay deterioration,” he adds. But he concludes, “more research is needed to establish the impact of GnRH on cognitive enhancement.”

Mara Dierssen is a researcher in the neurobiology of Down syndrome at the Center for Genomic Regulation. He had the opportunity to read the research which highlights that “the authors convincingly show the involvement of GnRH in the functioning of brain regions related to learning and memory, such as the hippocampus”. But what he appreciates most about his work is “the imbalance the authors find in a complex network of microRNAs, which regulates the expression of GnRH and the maturation of GnRH neurons”. It seems to him very relevant that “regulatory elements, such as microRNAs, may play a role in the neuropathology of Down syndrome”. However, Dierssen is very careful when evaluating the results in humans: “The problem is that the clinical study was carried out on a very small group. There are several examples of very promising clinical trials to improve cognition in people with Down syndrome, which worked well when tested on a small number of individuals, but then failed when the number of participants increased.”

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Global Non-Invasive Prenatal Screening (NIPS) Market Production, Growth, Share, Demand and Applications to 2028 https://www.novascotiadownsyndromesociety.com/global-non-invasive-prenatal-screening-nips-market-production-growth-share-demand-and-applications-to-2028/ Thu, 01 Sep 2022 06:36:57 +0000 https://www.novascotiadownsyndromesociety.com/global-non-invasive-prenatal-screening-nips-market-production-growth-share-demand-and-applications-to-2028/ Growth Forecast Report on “ Non-Invasive Prenatal Screening (NIPS) Market size | Industry Segment by Applications (Clinical Laboratories , Hospital ,By Region , North America , United States , Canada , Europe , Germany , France , UK , Italy , Russia and Nordic Countries), by Type (Trisomy 21 , Trisomy 18 […]]]>




Growth Forecast Report on “ Non-Invasive Prenatal Screening (NIPS) Market size | Industry Segment by Applications (Clinical Laboratories , Hospital ,By Region , North America , United States , Canada , Europe , Germany , France , UK , Italy , Russia and Nordic Countries), by Type (Trisomy 21 , Trisomy 18 , Trisomy 13 , Sex Chromosome Aneuploidies and Others), Regional Outlook, Market Demand, Latest Trends, Non-Invasive Prenatal Screening (NIPS) Industry Growth & Revenue by Manufacturers, Company Profiles, Growth Forecasts – 2028.” Analyzes current market size and upcoming 5 years growth of this industry.

The Non-Invasive Prenatal Screening (NIPS) market report firstly introduced the basics: definitions, classifications, applications and market overview; product specifications; manufacturing processes; cost structures, raw materials and so on. Then it analyzed the world’s main region market conditions, including the product price, profit, capacity, production, supply, demand and market growth rate and forecast etc. In the end, the Non-Invasive Prenatal Screening (NIPS) market report introduced new project SWOT analysis, investment feasibility analysis, and investment return analysis.

This study has been analyzed and takes into account the CAGR of the market, Valuation, Volume, Revenue (Historical and forecast), sales (current and future), and other key factors related to global Non-Invasive Prenatal Screening (NIPS) Market.

Request Sample Copy of this Report @ https://www.newsorigins.com/request-sample/55740

Primitive manufacturers involved in the Non-Invasive Prenatal Screening (NIPS) market report:

  • Myriad Genetics Illumina Progenity Natera Yourgene Health Roche Sequencing Solutions (RSS) Eurofins LifeCodexx GmbH Labcorp PerkinElmer Harmony

The study objectives of Specialty Oleochemicals Market Report are:

  • To analyze and research the Non-Invasive Prenatal Screening (NIPS) market status and future forecast in the United States, European Union, and China, involving sales, value (revenue), growth rate (CAGR ), market share, historical and forecast.
  • To present the Non-Invasive Prenatal Screening (NIPS) manufacturers, presenting the sales, revenue, market share, and recent developments for key players.
  • To divide breakdown data by regions, type, companies and applications
  • To analyze the global Non-Invasive Prenatal Screening (NIPS) market potential and benefits and benefits, opportunities and challenges, restraints and risks.
  • Identify significant trends, drivers, influencing factors in the world and regions
  • To analyze competitive developments such as expansions, agreements, new product launches, and acquisitions in the Non-Invasive Prenatal Screening (NIPS) market.

By product type, the market is primarily split into:

  • Trisomy 21
  • Trisomy 18
  • Trisomy 13
  • Aneuploidies of sex chromosomes and others

By Product Applications, the market is primarily split into:

  • Clinical laboratories
  • Hospital
  • By region
  • North America
  • United States
  • Canada
  • Europe
  • Germany
  • France
  • UK
  • Italy
  • Russia and Nordic countries

Global Non-Invasive Prenatal Screening (NIPS) Market presents critical information and factual data about the Non-Invasive Prenatal Screening (NIPS) industry, with an overall statistical study of this market based on market drivers, limitations of the market and its future prospects. Widespread trends and opportunities are also considered in the Non-Invasive Prenatal Screening (NIPS) market study.

Key points describing the various features of the report:-

Manufacturing analysis – The Non-Invasive Prenatal Screening (NIPS) Market offers a section featuring the manufacturing process examination authorized by means of vital data gathered through Industry specialists and Key authorities of profiled organizations.

Competition in the remote diagnostics market – Leading professionals were vetted based on their company profile, product database, capability, product/service value, transactions, and cost/revenue.

Demand & Supply and Efficiency – The Non-Invasive Prenatal Screening (NIPS) industry report further provides distribution, production, consumption, and EXIM (export and import).

What this Noninvasive Prenatal Screening (NIPS) Industry Research Report Offers:

  • Global Non-Invasive Prenatal Screening (NIPS) Market size, share valuations for regional and country level segments.
  • Global Market Changes, Drivers, Restraints, Growth Opportunities, Threats, Challenges, Investment Opportunities, and Recommendations.
  • Non-Invasive Prenatal Screening (NIPS) Market forecast for 5 to 6 years along with historical data of all the mentioned segments, sub-segments and regional markets.
  • Competitive landscape mapping with key trends.
  • Profiling major companies with their detailed policies, finances and recent developments.
  • Strategic recommendations for new businesses and start-ups.
  • Supply chain movements mapping the latest technological advancements.
  • Strategic endorsements in business segments based on market valuations.

Customization request for this report @ https://www.newsorigins.com/request-for-customization/55740

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Types of Down Syndrome: Causes and Symptoms https://www.novascotiadownsyndromesociety.com/types-of-down-syndrome-causes-and-symptoms/ Wed, 31 Aug 2022 07:00:00 +0000 https://www.novascotiadownsyndromesociety.com/types-of-down-syndrome-causes-and-symptoms/ Trisomy occurs when three copies of a chromosome are present instead of two (all chromosomes normally come in pairs). While most expectant parents are aware of Down syndrome and will undergo prenatal screening to detect it, other potentially more serious trisomies can occur, including Edwards syndrome, Patau syndrome and others. Some may cause few or […]]]>

Trisomy occurs when three copies of a chromosome are present instead of two (all chromosomes normally come in pairs). While most expectant parents are aware of Down syndrome and will undergo prenatal screening to detect it, other potentially more serious trisomies can occur, including Edwards syndrome, Patau syndrome and others.

Some may cause few or no symptoms. Others can lead to serious malformations that make life, or even pregnancy, unbearable.

SMC Images/Getty Images

What are trisomies?

Genes that contain all of the DNA-encoded information related to physiological makeup and metabolic function are found on chromosomes. Each human cell nucleus typically contains 46 chromosomes, 23 of which we inherit from each genetic parent.

Of these, 22 pairs are autosomes, which determine our unique biological and physiological characteristics. The 23rd pair is that of the sex chromosomes (X or Y), which largely determine biological sex.

In rare cases, a coding error can occur when a cell divides during fetal development. Instead of dividing cleanly into two identical chromosomes, the newly divided chromosome will have extra genetic material.

This can lead to complete trisomy (in which a complete third chromosome is created) or partial trisomy (in which only part of the chromosome is copied). From then on, the error will repeat and repeat as the cell continues to divide.

Down syndrome, the most common genetic disease in humans, is called trisomy 21 because there is an extra copy of chromosome 21 in the nucleus of every cell. Other genetic diseases have the same name.

Causes and consequences

Trisomies affecting the sex chromosomes – in which genetic females usually have two X chromosomes (XX) and genetic males have one X and Y chromosome (XY) – tend to be less severe. Autosomal trisomies often result in severe physical and intellectual disabilities, especially autosomal complete trisomies, where early death is common.

In addition to birth defects, trisomies can affect the viability of a pregnancy. In fact, more than half of all miscarriages are believed to be directly associated with a chromosomal abnormality. Of these, many are due to trisomies.

Nobody knows for sure why chromosome 21 is so vulnerable to trisomy. Of all the trisomies identified by researchers, Down syndrome is known to affect nearly one in every 800 births worldwide. These other trisomies are much less common but worth knowing.

Types of trisomy

There are several types of trisomy. Some can give birth to a live baby, while others can cause miscarriage in the early months of pregnancy.

Edwards syndrome (trisomy 18)

Edwards syndrome (trisomy 18) is usually caused by an extra chromosome 18. About 5% of cases are due to an error known as a translocation in which the building blocks of one chromosome are inserted into another.

Edwards syndrome is rare, affecting only one in 5,000 births.

Edwards syndrome is characterized by low birth weight, an abnormally small head, and abnormalities of the heart, kidneys, lungs, and other organs. While a few children with Edwards syndrome survive into adolescence, the majority die within the first year (and often days) of life.

Patau syndrome (trisomy 13)

Most cases of Patau syndrome (trisomy 13) are related to complete trisomy; a very small proportion is caused by translocation or a similar condition known as mosaicism in which the chromosomal building blocks are rearranged.

Patau syndrome is the third most common autosomal disease in newborns after Down syndrome and Edwards syndrome.

Children with Patau syndrome will often have cleft lips and palates, extra fingers or toes, heart defects, severe brain abnormalities, and malformed or rotated internal organs. The severity of the symptoms is such that a baby with Patau syndrome rarely lives beyond the first month.

Warkany syndrome (trisomy 8)

Warkany syndrome (trisomy 8) is a common cause of miscarriage and usually results in the death of the newborn within the first few months. Babies born with Warkany syndrome typically have a cleft palate, distinctive facial features, heart defects, joint defects, abnormal or missing kneecaps, and an abnormally curved spine (scoliosis).

Babies born with trisomy mosaic 8 (T8MS) can survive, but the condition is rare. Worldwide, T8MS occurs in approximately one in every 25,000 to 50,000 live births.

Trisomy 16

Complete trisomy 16 is incompatible with life. While most fetuses with this anomaly are spontaneously aborted by the 12th week of gestation, a few have survived until the second trimester.

Trisomy 16 is the most common autosomal trisomy seen in miscarriages, accounting for at least 15% of first trimester pregnancy losses.

In contrast, the chances of survival for children with mosaic trisomy 16 were once thought to be low, with most deaths occurring in early childhood.

Advances in genetic research have since shown that some previously unidentified children with mosaic trisomy 16 have no abnormalities of any kind and that the risk of miscarriage and birth defects is directly related to the number of cells carrying the mosaic. chromosomal mutation.

That being said, more than half of babies with mosaic trisomy 16 will have fetal abnormalities. Symptoms of trisomy 16 can include musculoskeletal abnormalities, distinctive facial features, undersized lungs, and atrial septal defect (a hole between the upper chambers of the heart). The life expectancy of children with mosaic trisomy 16 depends on the extent of these types of problems.

Males will often have hypospadias in which the opening of the urethra grows over the shaft of the penis rather than at the end. Developmental delays can occur but are less common than other trisomies.

Trisomy 22

Most fetuses with complete trisomy 22 miscarry before the first trimester. The severity of physical and organic malformations is such that full-term babies are unable to survive for more than a few hours or days.

Trisomy 22 is the second most common chromosomal cause of miscarriage.

Some babies with mosaic trisomy 22 survive. The severity of birth defects is determined by the number of cells with the mutated chromosomal copy. Characteristic findings include heart abnormalities, kidney problems, intellectual disability, muscle weakness, and cognitive and developmental delays.

Trisomy 9

Trisomy 9 is a rare disease in which complete trisomy is usually fatal within the first 21 days of life. Newborns with trisomy 9 will have a smaller head, distinctive facial features (including a bulbous nose and slanted forehead), a deformed heart, kidney problems, and often severe muscle and skeletal deformities.

Babies born with partial or mosaic trisomy 9 have a much higher chance of survival. This is especially true with mosaic trisomy 9 in which organ defects tend to be less severe and intellectual disabilities do not necessarily impede basic language, communication, or social-emotional development.

Since the disorder was first identified in 1973, few cases of trisomy mosaic 9 have been positively identified in the medical literature.

Klinefelter syndrome (XXY syndrome)

Klinefelter syndrome, also known as XXY syndrome, is a condition affecting males caused by an extra X chromosome. People with Klinefelter syndrome typically produce low testosterone, which leads to reduced muscle mass, facial hair, and body hair.

Characteristic symptoms include small testicles, developmental delay, breast enlargement (gynecomastia) and reduced fertility. The severity of symptoms can vary greatly.

Klinefelter syndrome is common, affecting 0.1% to 0.2% of newborn boys.

Some people with Klinefelter syndrome may also have learning disabilities, which are usually focused on language, although intelligence is usually normal. Testosterone replacement therapy is often used to treat the disorder alongside assisted fertility treatments for those wishing to father children.

Triple X Syndrome (Trisomy X)

Some women are born with triple X syndrome, involving an extra X chromosome. Triple X syndrome, also known as XXX syndrome, is not associated with physical characteristics and often causes no medical symptoms.

XXX syndrome is reported in approximately 1 in 1,000 newborn female babies. Since XXX syndrome may not cause obvious symptoms, it is thought to be underdiagnosed.

A small proportion of those affected may have menstrual irregularities as well as learning disabilities, speech delay and compromised language skills. When Down syndrome causes symptoms, treatment usually involves physical and speech therapy and classroom support. However, most people with trisomy X will grow normally and unhindered.

XYY-syndrome

Most males born with an extra Y chromosome do not have any distinguishing physical characteristics or medical issues. On the contrary, people with XYY syndrome can sometimes be taller than average and may be at increased risk for learning disabilities, as well as speech and language delays.

XYY syndrome is reported to affect 1 in 1,000 newborn males. Because there are few symptoms, however, a diagnosis is thought to only be made in about 15% of cases.

Impairment, if any, tends to be mild. Most adults with XYY syndrome have normal sexual development and are able to conceive children.

Frequently Asked Questions

  • What are the 3 most common trisomic anomalies?

    The three most common trisomies are Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13). Children with Down syndrome often have a good prognosis, with a life expectancy of up to 60 years. However, most children with Edwards syndrome and Patau syndrome die in infancy.

  • What is the life expectancy of a person with trisomy X?

    Trisomy X does not affect life expectancy. Most people born with Down syndrome lead normal lives, although there is an increased risk of learning disabilities.

  • How common are trisomy 16 miscarriages?

    Some sources estimate that trisomy 16 causes up to 15% of all miscarriages that occur in the first trimester.

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