Track topics on Twitter Track topics that are important to you
Some state-based newborn screening programs in the United States already use sequencing technology, as a secondary screening test for individual conditions rather than as a broad screening tool. Newborn screening programs sequence an individual gene, such as the cystic fibrosis transmembrane conductance regulator, which causes cystic fibrosis, after an initial biochemical test suggests that a baby might have a condition related to that gene. The experiences of state public health departments with individual-gene sequencing illustrate both the usefulness of the technology and its complexities. Here I discuss how newborn screening programs investigate cystic fibrosis and, as another example, adrenoleukodystrophy through individual gene sequencing.
This article was published in the following journal.
Name: The Hastings Center report
Now widely adopted, SCID newborn screening has proven effective for early identification and treatment of SCID. In addition, screening has improved our understanding of SCID and related disorders, whi...
Massively parallel sequencing, also known as next-generation sequencing, has the potential to significantly improve newborn screening programs in the United States and around the world. Compared to ge...
Debates about expanding newborn screening with whole genome sequencing are fueled by data about public perception, public opinion, and the positions taken by public advocates and advocacy groups. One ...
The possible integration of genomic sequencing (including whole-genome and whole-exome sequencing) into the three contexts addressed in this special report-state-mandated screening programs, clinical ...
Many scientists and doctors hope that affordable genome sequencing will lead to more personalized medical care and improve public health in ways that will benefit children, families, and society more ...
To address the content, timing, efficacy, and impact of prenatal education about newborn screening generally and sample retention specifically.
Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening sampl...
Hearing impairment is the most frequent sensory deficit in humans and affects one newborn out of 500. The prevalence rises to 3,5/1000 in teenagers due to retarded forms. Most of hearing i...
The purpose of this clinical trial is to determine the efficacy and safety of DNA methylation level in embryos during blastocyst embryo screening. Subjects with blastocysts on day 5-7 of e...
This study will look at the feasibility and acceptability of testing newborn babies who are referred after their newborn hearing screen for an infection called congenital Cytomegalovirus (...
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Success in bringing an effort to the desired end; the degree or level of success attained in some specified area (esp. scholastic) or in general.
A phenomenon in which multiple and diverse phenotypic outcomes are influenced by a single gene (or single gene product.)
Belief in a positive outcome.
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...