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Precision Health Database


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Reproductive and Child Health

Last data update: Jun 24, 2022. (Total: 47910 Documents since 2012)
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Query Trace: Carrier Testing Or Carrier Screening[original query]>>Reviews/Commentaries[Product Type]
Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.
Veneruso Iolanda et al. Medicina (Kaunas, Lithuania) 2022 58(3)
The changing therapeutic landscape of spinal muscular atrophy.
Davidson Joanne E et al. Australian journal of general practice 2022 51(1-2) 38-42
Genetic neuromuscular disorders: what is the best that we can do?
Laing Nigel G et al. Neuromuscular disorders : NMD 2021 31(10) 1081-1089
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
Ethical considerations in gene selection for reproductive carrier screening.
Dive Lisa et al. Human genetics 2021
The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies.
Achour Ahlem et al. Frontiers in physiology 2021 12686689
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
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
Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy.
Lee Bo Hoon et al. Muscle & nerve 2021
Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider.
Hopkins Maeve K et al. Obstetrical & gynecological survey 2021 76(3) 166-169
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.
Keinath Melissa C et al. The application of clinical genetics 2021 1411-25
Expanded Carrier Screening and the Complexity of Implementation.
Silver Julia et al. Obstetrics and gynecology 2021 Jan Publish Ahead of Print
Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy.
Jedrzejowska Maria et al. Degenerative neurological and neuromuscular disease 2020 1039-47
Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.
Cornel Martina C et al. Journal of community genetics 2020 Oct
Ethical issues in reproductive genetic carrier screening.
Dive Lisa et al. The Medical journal of Australia 2020 Sep
Resolving misalignment interference for NGS-based clinical diagnostics.
Lee Che-Yu et al. Human genetics 2020 Sep
Cystic fibrosis carrier screening using next generation sequencing: A cautionary tale.
Coward R Matthew et al. Fertility and sterility 2020 Aug
Diagnostic Testing for Patients with Spinal Muscular Atrophy.
Brandsema John F et al. Clinics in laboratory medicine 2020 Sep 40(3) 357-367
Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.
Verma Ishwar C et al. Clinical genetics 2020 Aug 98(2) 198-199
Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.
Bienvenu Thierry et al. Genes 2020 Jun 11(6)
The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery.
Scotet Virginie et al. Genes 2020 May 11(6)
Reproductive options for families at risk of Osteogenesis Imperfecta: a review.
Zhytnik Lidiia et al. Orphanet journal of rare diseases 2020 May 15(1) 128
Expanded carrier screening should not be mandatory for gamete donors.
Pennings Guido et al. Human reproduction (Oxford, England) 2020 May
Autonomous decisions by couples in reproductive care.
Matar Amal et al. BMC medical ethics 2020 Apr 21(1) 30
Legal Considerations in Genetic Screening and Testing: Three Case Studies: ACOG Committee Opinion, Number 805.
et al. Obstetrics and gynecology 2020 Apr 135(4) e189-e192
Expanded universal carrier screening and its implementation within a publicly funded healthcare service.
Rowe Charlotte A et al. Journal of community genetics 2019 Dec
International perspectives on the implementation of reproductive carrier screening.
Delatycki Martin B et al. Prenatal diagnosis 2019 Nov
The current and future impact of genome-wide sequencing on fetal precision medicine.
Sabbagh Riwa et al. Human genetics 2019 Nov
Inborn Errors of Metabolism: From Preconception to Adulthood.
Kruszka Paul et al. American family physician 2019 99(1) 25-32
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