Items Tagged ‘#Down syndrome’

March 19, 2019 · Leave a Comment

Not the end of the road: Delivering the diagnosis of sex-chromosome trisomy

By Barbara J. Toman Barbara J. Toman (@barbaratoman)

Even if you’ve never heard the word “trisomy,” you probably know someone with the condition. March is Trisomy Awareness Month, a time to raise awareness about trisomy conditions and the challenges they can pose to individuals and families. Trisomy means having three copies of a chromosome instead of two. Down syndrome, or trisomy 21, is […]

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Tags: #Down syndrome, #Dr. Megan Allyse, #Klinefelter syndrome, #sex-chromosomes, #trisomy, Mayo Clinic Center for Individualized Medicine


August 29, 2017 · Leave a Comment

Exploring ethical issues to improve reproductive health

By Sharon Rosen Sharon Rosen (@sharonhrosen)

New genomic technologies offer great promise for better diagnostic tests and treatments for many conditions. But they also pose new ethical questions – ones physicians and patients must address when making decisions about medical care. For example, genetic tests can determine if a couple is at risk of having a child with a genetic condition. […]

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Tags: #Center for Individualized Medicine Bioethics Program, #CIMCon17, #developmental pediatric services, #Down syndrome, #Dr. Megan Allyse, #Genetic diseases, #genetic disorders, #Genomic analysis, #Individualizing Medicine 2017, #Klinefelter syndrome, #perinatal testing, #prenatal genetic testing


June 23, 2017 · Leave a Comment

Perinatal genetic screening: new technologies help parents learn more about the health of their baby

By Sharon Rosen Sharon Rosen (@sharonhrosen)

New genomic technology is reshaping perinatal screening, which is testing before and during pregnancy to assess the health of a baby. Now pregnant women can have their baby initially screened for genetic disorders, such as Down syndrome, through the use of a newer blood test that evaluates DNA from the placenta present in the mother’s […]

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Tags: #cell-free DNA testing, #DNA analysis, #Down syndrome, #Dr. Myra Wick, #expanded carrier screening, #genetic disorders, #perinatal testing, #prenatal screening, #prenatal testing, center for individualized medicine, Genetic Testing, mayo clinic


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