Tag #Genetic Screening

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zeit.de

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Jun 6, 07:15

NIPT Use Among Pregnant Women in Lower Saxony Rises Significantly

In Lower Saxony, Germany, non-invasive prenatal testing (NIPT) for trisomies among pregnant women rose from 34.4% in 2023 to 44.8% in 2024, with older women using the test more frequently; however, this has not yet led to fewer invasive tests, according to the Barmer health insurance.

NIPT Use Among Pregnant Women in Lower Saxony Rises Significantly

In Lower Saxony, Germany, non-invasive prenatal testing (NIPT) for trisomies among pregnant women rose from 34.4% in 2023 to 44.8% in 2024, with older women using the test more frequently; however, this has not yet led to fewer invasive tests, according to the Barmer health insurance.

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How does the increased use of NIPT in older pregnant women relate to the overall goal of reducing invasive prenatal procedures?

The rise in NIPT usage reflects increased access since insurers began covering costs in July 2022. Older pregnant women (60.9% of those 36 and older) utilized the test more frequently. While the test aimed to reduce invasive procedures with potential risks like infection, the Barmer health insurance found no evidence of this yet.

lexpansion.lexpress.fr

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Dec 16, 04:09

Pre-conception Genetic Testing: Potential to Reduce Severe Genetic Diseases in France

In France, 15,000-20,000 new cases of severe genetic diseases are diagnosed yearly, impacting 2-3% of the population. An Australian study showed pre-conception genetic testing identified 2% of 9,100 couples at risk, with 75% using this information for prenatal or preimplantation diagnosis, suggestin...

Pre-conception Genetic Testing: Potential to Reduce Severe Genetic Diseases in France

In France, 15,000-20,000 new cases of severe genetic diseases are diagnosed yearly, impacting 2-3% of the population. An Australian study showed pre-conception genetic testing identified 2% of 9,100 couples at risk, with 75% using this information for prenatal or preimplantation diagnosis, suggestin...

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What is the potential impact of widespread pre-conception genetic testing in France on the incidence of severe genetic diseases?

In France, 15,000 to 20,000 new cases of genetic diseases are diagnosed annually, impacting 2-3% of the population. Many of these diseases are severe, lacking curative treatments and significantly affecting life expectancy and quality of life. Genetic testing can identify at-risk couples before conception, allowing for prenatal or preimplantation diagnosis.

jpost.com

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May 4, 07:15

TRIM63 Gene Identified as Major Risk Factor for Hypertrophic Cardiomyopathy

An Israeli study identified TRIM63 gene variants in 12.2% of 107 hypertrophic cardiomyopathy (HCM) patients, significantly increasing risk; the discovery, published in Circulation: Genomic and Precision Medicine, could transform global genetic screening and treatment protocols.

TRIM63 Gene Identified as Major Risk Factor for Hypertrophic Cardiomyopathy

An Israeli study identified TRIM63 gene variants in 12.2% of 107 hypertrophic cardiomyopathy (HCM) patients, significantly increasing risk; the discovery, published in Circulation: Genomic and Precision Medicine, could transform global genetic screening and treatment protocols.

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How did the researchers determine the prevalence and impact of TRIM63 variants in HCM patients?

The research, conducted at the Clalit Research Institute and Rabin Medical Center, analyzed HCM patients from diverse populations. Biallelic TRIM63 variants were found in 4.7% of patients, causing severe HCM, while monoallelic variants were present in another 7.5%. These variants were 8.2 times more common in HCM patients than in a control group.

votreargent.lexpress.fr

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Dec 15, 22:09

Genetic Testing Could Prevent Thousands of Severe Genetic Disease Births in France

In France, 15,000–20,000 new cases of severe genetic diseases are diagnosed annually; Australia's genetic testing program, identifying ~2% of couples at risk, resulted in 3/4 using this information for preventative measures, suggesting a potential for reducing severe genetic disease births in France...

Genetic Testing Could Prevent Thousands of Severe Genetic Disease Births in France

In France, 15,000–20,000 new cases of severe genetic diseases are diagnosed annually; Australia's genetic testing program, identifying ~2% of couples at risk, resulted in 3/4 using this information for preventative measures, suggesting a potential for reducing severe genetic disease births in France...

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What is the immediate impact of widespread genetic testing on the incidence of severe genetic diseases in France, considering Australia's experience?

In France, 15,000 to 20,000 new cases of genetic diseases are diagnosed yearly, impacting 2-3% of the population. Many lack curative treatments, significantly affecting life expectancy and quality. Genetic testing can identify at-risk couples before conception, leading to preventative measures like prenatal or preimplantation diagnosis.

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