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Mothers of Children With Down Syndrome Reflect on Their Postnatal Support
Objective. Since 1964, researchers have been examining the ways in which physicians deliver a postnatal diagnosis of Down syndrome (DS). Almost all of the studies, however, have been limited toExpand
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Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
Disclaimer: This statement is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and doesExpand
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ACMG statement on noninvasive prenatal screening for fetal aneuploidy
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 andExpand
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Down syndrome: Cognitive and behavioral functioning across the lifespan
Individuals with Down syndrome (DS) commonly possess unique neurocognitive and neurobehavioral profiles that emerge within specific developmental periods. These profiles are distinct relative toExpand
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Prenatally diagnosed Down syndrome: mothers who continued their pregnancies evaluate their health care providers.
  • B. Skotko
  • Medicine
  • American journal of obstetrics and gynecology
  • 1 March 2005
OBJECTIVE This study was undertaken to ask mothers who had children with Down syndrome after receiving a prenatal diagnosis: How was the process and what, if anything, could be improved? STUDYExpand
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Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics
(Abstracted from Genet Med 2016;18(10):1056–1065)Rapid advancements in genomic technologies led to the introduction in 2011 of noninvasive prenatal screening (NIPS) that used cell-free DNA (cfDNA)Expand
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Parent Reading Behaviors and Communication Outcomes in Girls with Rett Syndrome
We describe evidence and intervention strategies for parents, educators, and researchers who seek to enhance communication and literacy in children with Rett syndrome (RS). Four girls with RS andExpand
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Contributions of a specialty clinic for children and adolescents with Down syndrome
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, weExpand
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Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States
The present and future live birth prevalence of Down syndrome (DS) is of practical importance for planning services and prioritizing research to support people living with the condition. Live birthExpand
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Storybook-based communication intervention for girls with Rett syndrome and their mothers.
PURPOSE Storybook reading provides a natural language learning context in which to support early symbolic communication. In this study, we explored the impact of (1) resting hand splints, (2) lightExpand
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