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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Reproductive and Child Health
Last data update: Apr 25, 2024
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Carrier Testing Or Carrier Screening[original query]>>Reviews/Commentaries[Product Type]
Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
Neeta L Vora et al. Prenat Diagn 2023
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Connecting the Dots: Carrier Screening and the Genetic Information Nondiscrimination Act in the United States.
Stephanie M Rice et al. Prenat Diagn 2023
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How should severity be understood in the context of reproductive genetic carrier screening?
Lisa Dive et al. Bioethics 2023
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An Ethical Argument for Health Insurance Coverage of Paternal Prenatal Genetic Testing.
Michelle T Nguyen et al. Obstetrics and gynecology 2023 141(1) 11-14
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Expecting more: the case for incorporating fertility services into comprehensive sickle cell disease care.
Lydia H Pecker et al. The Lancet. Haematology 2023
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Informed Consent for Expanded Carrier Screening: Past, Present, and Future.
Rink Britton D et al. Prenatal diagnosis 2023
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Opening Pandora's Box: Abnormal Genetic Carrier Screening and Need for Lifetime Follow Up.
Strauss Tirtza Spiegel et al. American journal of obstetrics & gynecology MFM 2022 100820
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The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening.
Best Stephanie et al. European journal of human genetics : EJHG 2022
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Couple screening for recessively inherited disorders.
Sisterna Silvina et al. Journal of medical screening 2022 9691413221137039
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Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening.
Dive Lisa et al. European journal of human genetics : EJHG 2022
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Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening
L Dive et al, EJHG, November 7, 2022
Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review.
Edwards Samantha et al. Journal of personalized medicine 2022 12(10)
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Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review
S Edwards et al, J Per Medicine, October 2022
Prenatal genetic testing 1: screening tests.
Jenkins Morgan et al. Current opinion in pediatrics 2022
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Societal implications of expanded universal carrier screening: a scoping review
LM van der Heuvel el a, EJHG, September 12, 2022
Carrier screening: an update.
Zhang Kuo et al. Clinica chimica acta; international journal of clinical chemistry 2022
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Ethically robust reproductive genetic carrier screening needs to measure outcomes that matter to patients
L Dive et al, EJHG, May 18, 2022
Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.
Veneruso Iolanda et al. Medicina (Kaunas, Lithuania) 2022 58(3)
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The changing therapeutic landscape of spinal muscular atrophy.
Davidson Joanne E et al. Australian journal of general practice 2022 51(1-2) 38-42
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Genetic neuromuscular disorders: what is the best that we can do?
Laing Nigel G et al. Neuromuscular disorders : NMD 2021 31(10) 1081-1089
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Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Hussein Norita et al. The Cochrane database of systematic reviews 2021 10CD010849
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Ethical considerations in gene selection for reproductive carrier screening.
Dive Lisa et al. Human genetics 2021
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The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies.
Achour Ahlem et al. Frontiers in physiology 2021 12686689
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ACMG Carrier Screening Guidelines: Falling Short On Equity and Inclusion
K Stoll et a, The DNA Exchange, July 2021
How genomics is changing the practice of prenatal testing.
Filges Isabel et al. Journal of perinatal medicine 2021
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Privacy Risks in Prenatal Aneuploidy and Carrier Screening: What Obstetricians and Their Patients Need to Know.
Parobek Christian M et al. Obstetrics and gynecology 2021
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Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy.
Lee Bo Hoon et al. Muscle & nerve 2021
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Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider.
Hopkins Maeve K et al. Obstetrical & gynecological survey 2021 76(3) 166-169
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Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.
Keinath Melissa C et al. The application of clinical genetics 2021 1411-25
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Expanded Carrier Screening and the Complexity of Implementation.
Silver Julia et al. Obstetrics and gynecology 2021 Jan Publish Ahead of Print
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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