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CDC A-Z Index
Public Health Genomics and Precision Health Knowledge Base (v8.7)
PHGKB
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Office of Genomics and Precision Public Health
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Last data update: Sep 22, 2023
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Prenatal testing[original query]>>Evidence Synthesis [Product Type]
Patient perspectives on noninvasive prenatal testing among black women in the United States: a scoping review.
Shameka P Thomas et al. BMC pregnancy and childbirth 2023 23(1) 183
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Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review.
Zaninovic Luca et al. Diagnostics (Basel, Switzerland) 2023 13(2)
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Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.
Dron Heather A et al. Journal of genetic counseling 2022
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Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies
NC Rose et al, Genetics in Medicine, May 23, 2022
Reflex single-gene non-invasive prenatal testing is associated with markedly better detection of fetuses affected with single-gene recessive disorders at lower cost.
Riku Shan et al. Journal of medical economics 2022 1-29
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Decision-making factors in prenatal testing: A systematic review.
Di Mattei Valentina et al. Health psychology open 8(1) 2055102920987455
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Application of exome sequencing for prenatal diagnosis: a rapid scoping review.
Pratt Misty et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug
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Psychosocial implications of living with familial risk of a psychiatric disorder and attitudes to psychiatric genetic testing: A systematic review of the literature.
Meiser Bettina et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2020 May
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The role of information provision in economic evaluations of non-invasive prenatal testing: a systematic review.
John Nikita M et al. The European journal of health economics : HEPAC : health economics in prevention and care 2019 Nov 20(8) 1123-1131
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Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review.
Samura Osamu et al. Taiwanese journal of obstetrics & gynecology 2020 Jan 59(1) 16-20
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Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis.
Zhang Wei et al. PloS one 2019 14(12) e0225281
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Psychological and social consequences of non-invasive prenatal testing (NIPT): a scoping review.
Labonté Valérie et al. BMC pregnancy and childbirth 2019 Oct 19(1) 385
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Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review.
Kessels Sharon J M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug
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CLINGEN Actionability Report for Familial Adenomatous Polyposis - APC
ClinGen Actionability Working Group
CLINGEN Actionability Report for Factor V Leiden, Homozygous (also includes compound heterozygous FVL + prothrombin G20210A) - F5
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hereditary Hemorrhagic Telangiectasia - ENG, ACVRL1, SMAD4, GDF2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
CLINGEN Actionability Report for Malignant Hyperthermia Susceptibility - RYR1, CACNA1S
ClinGen Actionability Working Group
CLINGEN Actionability Report for MUTYH-Associated Polyposis - MUTYH
ClinGen Actionability Working Group
CLINGEN Actionability Report for Basal Cell Nevus Syndrome (BCNS) - PTCH1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Multiple Endocrine Neoplasia Type I - MEN1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatemic rickets, autosomal dominant-FGF23
ClinGen Actionability Working Group
CLINGEN Actionability Report for Acrodermatitis enteropathica, zinc-deficiency type-SLC39A4
ClinGen Actionability Working Group
CLINGEN Actionability Report for Homocystinuria due to Cystathionine Beta-Synthase Deficiency - CBS
ClinGen Actionability Working Group
CLINGEN Actionability Report for Glycogen Storage Disease 2 - GAA
ClinGen Actionability Working Group
CLINGEN Actionability Report for Wilms tumor-WT1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Ehlers-Danlos syndrome, classic type - COL5A1, COL5A2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Pancreatic cancer/melanoma syndrome - CDKN2A
ClinGen Actionability Working Group
CLINGEN Actionability Report for Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer - RET
ClinGen Actionability Working Group
CLINGEN Actionability Report for Juvenile polyposis syndrome - SMAD4, BMPR1A
ClinGen Actionability Working Group
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Page last reviewed:
Feb 1, 2023
Page last updated:
Sep 22, 2023
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