منابع مشابه
Refining noninvasive prenatal diagnosis with single-molecule next-generation sequencing.
The gradual elimination of risky procedures used to sample fetal material for prenatal diagnosis has been an important objective in medicine. It is often stated that more fetuses are lost due to such invasive procedures (amniocentesis and chorionic villus sampling) than are identified as carrying a chromosomal abnormality. Noninvasive prenatal diagnosis (NIPD) has developed substantially since ...
متن کاملUse of Next-generation Sequencing for Prenatal Diagnosis of Hypophosphatasia
We report on a patient who had recurrent skeletal dysplasia in three of four of her pregnancies which all resulted in termination of pregnancies. The ultrasound and / or histological findings of her first and fourth pregnancy were suggestive of osteogenesis imperfecta while those in her second pregnancy were more suggestive of achondrogenesis. The exact diagnosis could not be made clinically at...
متن کاملIntroducing the next generation sequencing in genomic amnio and villuos sampling. The so called "Next Generation Prenatal Diagnosis" (NGPD).
In the last 30 years, invasive prenatal diagnosis has predominantly involved research into chromosomal anomalies, in particular Down’s Syndrome (1). In the last 10 years, parents have been requesting ever more information during pregnancy (2,3) and there has been an increase in the number of cases with ultrasound markers concerning possible fetal complications of unknown origin. This has led to...
متن کاملNext-Generation cDNA Screening for Oncogene and Resistance Phenotypes
There is a pressing need for methods to define the functional relevance of genetic alterations identified by next-generation sequencing of cancer specimens. We developed new approaches to efficiently construct full-length cDNA libraries from small amounts of total RNA, screen for transforming and resistance phenotypes, and deconvolute by next-generation sequencing. Using this platform, we scree...
متن کاملChallenges of using next generation sequencing in newborn screening.
Whole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of wh...
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ژورنال
عنوان ژورنال: Science
سال: 2019
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.363.6429.832-b