Ontology highlight
ABSTRACT:
SUBMITTER: Wilkins-Haug L
PROVIDER: S-EPMC6721610 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Wilkins-Haug Louise L Zhang Chengsheng C Cerveira Eliza E Ryan Mallory M Mil-Homens Adam A Zhu Qihui Q Reddi Honey H Lee Charles C Bianchi Diana W DW
Prenatal diagnosis 20180501 6
<h4>Objective</h4>Maternal plasma cell-free DNA (cfDNA) analysis is a powerful screening tool for Down syndrome. In a pilot series, we examined biologic causes of discordance between the cfDNA test results and the fetal karyotype. We also explored the feasibility of obtaining trio biospecimens by using parental engagement.<h4>Methods</h4>A convenience sample of women with discordant cfDNA results were recruited by their care providers. We provided shipping materials and instructions for biospeci ...[more]