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News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… when deciding what types of information to receive from prenatal whole genome sequencing. The study, by researchers … set of genetic instructions found in a cell. Non-invasive prenatal whole genome sequencing is not currently available … consider having an abortion regardless of what the testing indicated. Women who identified as Hispanic or Latina …
Event
On April 16-17, 2018, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of CHild Health and Human Development (NICHD) hosted a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health.
… a joint workshop  -  Genomic Medicine for Reproductive, Prenatal and Neonatal Health. … Genomic Medicine for Reproductive, Prenatal and Neonatal Health … a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. … a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical … broad themes: prenatal genomics with the goal of advancing noninvasive prenatal DNA screening and diagnosis and … of fetal cell microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… A study exploring how prenatal blood test results for the baby might also detect … who:   received abnormal or non-reportable non-invasive prenatal testing (NIPT) results. had a follow-up test (an ultrasound … What not to expect when expecting: when prenatal screening suggests cancer  December 4, 2024 A new …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Direct-to-Consumer Genetic Testing for Healthcare Professionals   What is direct-to-consumer genetic testing?   Direct-to-consumer genetic tests (DTC-GT) are … or the use of health insurance to cover the cost of testing.  MedlinePlus Genetics gives an overview of DTC-GT …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves analyzing free … Cell-free DNA testing is a laboratory method that involves analyzing free … with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… an explosion in at-home, or "direct to consumer" genomic testing. You can even seek genomic information without … to learn more about yourself or your family through DNA testing - maybe you've seen ads on TV or heard them on the … testing, such as for cancer [see  Cancer Genomics ] and prenatal screening [see  NIPT ] in which a healthcare …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since … of Health has devised new ways to improve a genetic testing method called a polygenic risk score. … of Health has devised new ways to improve a genetic testing method called a polygenic risk score. …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family … Carrier screening involves testing to see if a person “carries” a genetic variation …