TOM BREEN
Our Tests Infertility Testing For couples struggling to become pregnant, genetic testing can identify a cause. It can help them make important treatment decisions when planning their families, or consider alternatives More about Infertility Testing Non-Invasive Prenatal Testing CentoNIPT® is a non-...
Herein, we review genetic tests utilized in the neonatal intensive care unit (NICU) providing background on the technology, clinical indications, advantages, and limitations of the tests. This review will span from classic cytogenetics to the evolving role of next generation sequencing and its ...
Europe and the Middle East, in particular, newborns are often checked at birth for a handful of common heritable illnesses, such as sickle-cell anaemia, thalassaemia and cystic fibrosis. But a whole-genome sequence offers the prospect of spotting thousands of disorders rather than the few ...
Biochemical tests primarily detect enzymatic defects such asphenylketonuria,porphyria, andglycogen-storage disease. Although testing of newborns for all these abnormalities is possible, it is not cost-effective, because some of these conditions are quite rare. Screening requirements for these disorders vary...
Advances in genomic medicine have lead to debate about the potential inclusion of genetic tests for susceptibility to common complex disorders in newborn screening programmes. Empirical evidence concerning psychosocial reactions to genetic testing is a crucial component of both ethical debate and policy de...
State health departments could eventually require the offering of tests for diagnosing treatable conditions in newborns, however, careful pilot studies for conditions diagnosable at birth need to be done first. Although the report asserted that it would prefer that all screening be voluntary, it did ...
16 As the Human Genome Project17,18 and other scientific advances19,20 create more opportunities for testing, the need for effective counseling also increases.12 This is true for tests that screen for congenital disorders, but it is just as important for many future tests that screen for ...
They may not represent all physi- cians who treat newborns, and included some physicians who do minimal newborn care. An attempt was made to analyze smaller groups to look for significant differences between them. However, some groups were so small that their prefer- ences cannot translate to...
The increasing utilization of various technologies such as biochemical testing, cytogenetic testing, and molecular testing is expected to favor the genetic testing market. The increasing demand for newborns and prenatal screening for identifying congenital abnormalities is another supporting factor for the ma...