Items Tagged ‘#Down syndrome’

March 19, 2019

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

By 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

Exploring ethical issues to improve reproductive health

By 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

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

By 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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