Brian G Skotko

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Noninvasive assessment of the fetal genome is now possible using next-generation sequencing technologies. The isolation of fetal DNA fragments from maternal circulation in sufficient quantity and sizes, together with proprietary bioinformatics tools, now allows patients the option of noninvasive fetal aneuploidy screening. However, obstetric care providers(More)
Researchers currently debate whether new semantic knowledge can be learned and retrieved despite extensive damage to medial temporal lobe (MTL) structures. The authors explored whether H. M., a patient with amnesia, could acquire new semantic information in the context of his lifelong hobby of solving crossword puzzles. First, H. M. was tested on a series(More)
We investigated what added value, if any, a Down syndrome specialty clinic brings to the healthcare needs of children and adolescents with Down syndrome. For this quality improvement study, we performed a retrospective chart review of 105 new patients with Down syndrome, ages 3 and older, seen during the inaugural year of our specialty clinic. We asked how(More)
Delivering and receiving a postnatal diagnosis of Down syndrome is not an easy experience for most physicians or parents. In this study, 467 mothers of children with Down syndrome in Spain completed a survey about the postnatal support services they received immediately following the diagnosis of their child. Mothers reported feeling anxious, frightened,(More)
This study asks people with Down syndrome (DS), ages 12 and older, about their self-perception so that their information could be shared with new and expectant parents of children with DS. We analyzed valid and reliable survey instruments from 284 people with DS on the mailing lists of 6 non-profit DS organizations around the country. Among those surveyed,(More)
This study asks parents who have children with Down syndrome (DS) how they feel about their lives so that such information could be shared with expectant couples during prenatal counseling sessions. A valid and reliable survey instrument was mailed to 4,924 households on the mailing lists of six non-profit DS organizations. Of the 2,044 respondents, 99%(More)
We sought to provide evidence-based recommendations to physicians on how to best deliver a prenatal diagnosis of DS to expectant parents. Our study design consisted of searching Medline and PsychInfo from 1960 to 2008, as well as Web sites from academic organizations and other nonprofit or private organizations, using the terms "Down syndrome," "Trisomy(More)
An expansive menu of prenatal tests for Down syndrome (DS) is already available to pregnant women around the globe, but new tests are likely to become the most popular entrées. Presently, pregnant women can choose among the many prenatal screening tests – triple screen, quadruple screen, first-trimester combined screen, stepwise sequential screens, and(More)
This study asks brothers and sisters about their feelings and perceptions toward their sibling with Down syndrome (DS). We analyzed valid and reliable surveys from 822 brothers and sisters whose families were on the mailing lists of six non-profit DS organizations around the country. More than 96% of brothers/sisters that responded to the survey indicated(More)