Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

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 does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results.

National Survey of Providers Treating Patients With Metabolic Disorders Identified by Newborn Screening Demonstrates Challenges Faced by Clinical Care Systems.

Objectives: To evaluate care processes for infants who are identified by newborn screening (NBS) and diagnosed with metabolic disorders during their first year of life.

Methods: A survey instrument was used to assess the scope and intensity of services needed to provide quality health care for patients from birth to 1 year of age who have a metabolic disorder identified by NBS. Significance testing was not performed; descriptive analyses are reported.

"People Say It's a Little Uncomfortable": Prenatal Genetic Counselors' Use of Constructed Dialogue to Reference Procedural Pain.

Prenatal genetic counseling involves an exchange of information between counselors and clients, including verbal descriptions of the potential pain of invasive prenatal diagnosis procedures such as amniocentesis. This paper describes the use of one linguistic feature in one context. It considers how two counselors describe procedural pain in 17 prenatal genetic counseling sessions, audiotaped as part of a larger data-driven study using sociolinguistic methodologies to characterize the discourse of genetic counseling.