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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 … advice on the types of information to receive from prenatal whole genome sequencing. Credit: Ernesto del Aguila …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… there are many cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various conditions (variations) … risks and potential benefits than established prenatal and newborn screening programs. Although the …
FAQ
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021, RFA-HG-24-022, and RFA-HG-24-023. These FAQs contain questions answered during that webinar.
… reporting of secondary findings not included in the screening protocol at the end of the study as consistent with … the services will be offered also in Spanish? Offering screening in Spanish is a possibility to be discussed by the … to all three elements (a, b, and c) to participate in the screening, or is it possible for them to proceed with testing …
… ​Genetic Screening … Genetic screening is the process of testing a population for a …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… year to repeat your evaluation.  … 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 … … What not to expect when expecting: when prenatal screening suggests cancer December 4, 2024 A new kind of …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down syndrome (also called Trisomy 21) is a …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical … translational research focuses on two broad themes: prenatal genomics with the goal of advancing noninvasive prenatal DNA screening and diagnosis and investigating the fetal …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… the panel address the social structural ramifications of screening based on race and/or genetic ancestry? Recognizing … with self-identified race or background genetic ancestry, screening based on these factors will inevitably miss some … Ideally, everyone would have genomic data available and screening would be based on actual variant data rather than …
Educational Resources
Non-directiveness refers to the nature of the genetic counseling process.
… to the nature of the genetic counseling process. … Carrier Screening, Birth Defect, Genetic Screening, Genetic Testing, Family Health History, Newborn Screening, Genetic Counseling …  … Non-directiveness refers …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… that have a higher risk of specific inherited diseases. Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases. Newborn screening is used to test babies one or two days after birth … assess responses to treatments. … Genetic Testing, Newborn Screening, Diagnosing A Genetic Condition, Genetic Disease … …