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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: May 09, 2024
. (Total: 63810 Documents since 2012)
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Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention.
Shayan M Dioun et al. Am J Obstet Gynecol 2024
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Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples.
Ariane J A G Van Tongerloo et al. J Genet Couns 2024
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Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
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Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
Xuan-Hong To-Mai et al. Sci Rep 2024 14(1) 7461
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Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Vivienne Souter et al. Circ Genom Precis Med 2024 e004457
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Clinical experience of next generation sequencing based expanded carrier screening in high-risk couples from a tertiary healthcare center in Pakistan.
Fizza Akbar et al. Prenat Diagn 2024
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Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.
Miska Kandolin et al. Am J Med Genet A 2024 e63588
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The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
Xue Zhang et al. Hum Genomics 2024 18(1) 9
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Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Wanna Chetruengchai et al. BMC Med Genomics 2024 17(1) 9
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Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Alexandra Santana Almansa et al. Ann Clin Transl Neurol 2024
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Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.
Eva Van Steijvoort et al. J Assist Reprod Genet 2024
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Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.
Carly Eichten et al. J Genet Couns 2024
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Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population.
Lauren Isley et al. F S Rep 2024 4(4) 384-389
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Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.
Li Shan Chen et al. J Hum Genet 2023
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Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
Mitra Chegini et al. Arch Dermatol Res 2023 316(1) 24
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The new face of cystic fibrosis in the era of population genetic carrier screening.
Miri Dotan et al. J Cyst Fibros 2023
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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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Parental request for familial carrier testing in early childhood: The genetic counseling perspective.
Sabrina V Southwick et al. Clin Genet 2023
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Effectiveness of preconceptional and prenatal cystic fibrosis carrier screening: a systematic review.
Rita Banzi et al. Epidemiol Prev 2023 47(4-5) 243-256
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The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast.
Kelly Roche et al. J Genet Couns 2023
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Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?
Embedzayi Madhiri et al. J Community Genet 2023
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Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study.
Han-Ying Chen et al. J Med Genet 2023
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Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Julia Wynn et al. Prenat Diagn 2023
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Ethnically unique disease burden and limitations of current expanded carrier screening panels.
Chih-Ling Chen et al. Int J Gynaecol Obstet 2023
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Lessons learned from the first national population-based genetic carrier-screening program for Duchenne Muscular Dystrophy.
A Singer et al, Genetics in Medicine, September 12, 2023
Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
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The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California
MT Nguyen et al, Genet in Med Open, September 2023
Scaling-up and future sustainability of a national reproductive genetic carrier screening program.
Zoe Fehlberg et al. NPJ Genom Med 2023 8(1) 18
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Defining core outcomes of reproductive genetic carrier screening: A Delphi survey of Australian and New Zealand stakeholders.
Ebony Richardson et al. Prenat Diagn 2023
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Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.
Lucinda Freeman et al. J Genet Couns 2023
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 09, 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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