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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.
… with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… (such as adolescents) or a type of counseling (such as prenatal). … Your health care provider may refer you to a …
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… Bonds Melissa ParisiMD PhD Medical Genetics Branch: Prenatal Genomics and Therapy Section • New Lab at NHGRI • Focus on Prenatal Treatment of Down syndrome • Incidental Findings Following Prenatal DNA Screening Building Bonds Between NHGRI and NICHD • NICHD has …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… 12-13, 2024  Genomic Medicine XV: Genomics and Population Screening November 8-9, 2023  Genomic Medicine XIV: Genomic … Silver Spring, Md.  Genomic Medicine for Reproductive, Prenatal and Neonatal Health April 16-17, 2018, Bethesda, Md. … Md. June 5-6, 2006, Bethesda, Md. … Population Genomic Screening in Primary Care Cooperative Agreement (U01 - …
Staff
Mr. Benjamin Berkman is the deputy director of NHGRI's Bioethics Core.
… BB, Hull SC, Berkman BE. Views of Pregnant Women on Prenatal Genome Sequencing . Obstetrics and Gynecology, …
For Health Professionals
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) aims to improve genomic literacy of healthcare providers and enhance the effective practice of genomics-informed healthcare by facilitating interactions among the key stakeholders in genomics education.
… Education Exercises Clinical Decision-Making in the Prenatal Setting  Direct-to-Consumer Genetic Testing FAQ for …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… advocacy groups to identify how information from this screening can better help patients prepare, identifying …
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… opt-in consent for use of biosamples in population level screening programs such as newborn screening. Most hospitals … Congress on Behalf on HR 3441, the "Accurate Education for Prenatal Screenings ActÓ In our last Report to Council we described how ACMGÕs 2013 Statement on Noninvasive Prenatal Screening (NIPS) for Fetal Aneuploidy came to the …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… of North Carolina at Chapel Hill Age-Based Genomic Screening in Newborns, Infants and Children: A Novel Paradigm … of Emerging Genomic Tests for Disease Management and Screening Marc S. Williams Geisinger Clinic Real-Time Genetic … Screen for Treatable Disorders Not Amenable to Current Screening **Catherine Astrid Brownstein Boston Children's …