Search Results
… ​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 … - as some pregnant people learn NPR, December 23, 2022 Prenatal DNA Sequencing for Fetal Aneuploidy Also Detects …
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 … …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… to conceive or whether to have a fetus tested for CF. Prenatal testing for CF can be done around the 11th week of … Since CF cannot be treated before birth, the purpose of prenatal testing is to prepare parents to care for a baby … Cystic Fibrosis Treatment, CFTR Protein, CFTR Gene, Prenatal Testing … Cystic fibrosis is a genetic disease that …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health …
Educational Resources
Fraternal twins are also dizygotic twins.
… twins. … Genes, Twins, Family Health History, Newborn Screening … Fraternal twins (also called dizygotic twins) …