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Tier-Classified Guidelines Database


Genomics & Health Impact Scan Database|Search|PHGKB

Reproductive and Child Health

Last data update: Nov 01, 2022. (Total: 509 Documents since 2012)
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Records 1-12 (of 12 Record(s))
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The tier level is assigned to the guideline, NOT to the specific search terms. For example, a Tier 1 guideline has at least one recommendation that meets criteria for Tier 1, but also could include tier 2 or 3 recommendations.
DO read the guidelines to find out about specific search terms.
DON’T rely on the overall tier classification of the guideline for the specified search terms.
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Query Trace: Birth Defects Or Congenital Anomalies[original query]
Publication Tier
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Manickam Kandamurugu et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021

Organization: American College of Medical Genetics and Genomics (ACMG) 		Tier 1
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude Frédéric et al. Nature reviews. Endocrinology 2018 Jan

Organization: Expert Panel 		Tier 2
Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.
Wirrell Elaine C et al. Pediatric neurology 2017 Mar 6818-34.e3

Organization: Expert Panel 		Tier 2
Diagnosis of Cystic Fibrosis in Screened Populations.
Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS33-S44.e2

Organization: Expert Panel 		Tier 2
International Consensus Statement on the Clinical and Therapeutic Management of Leber's Hereditary Optic Neuropathy.
Carelli Valerio et al. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2017 Oct

Organization: Expert Panel 		Tier 2
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky Jeffrey M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug

Organization: Expert Panel 		Tier 2
Brazilian guidelines for the diagnosis and treatment of cystic fibrosis.
Athanazio Rodrigo Abensur et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 43(3) 219-245

Organization: Expert Panel 		Tier 2
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern Margaret M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Apr

Organization: French Society of Predictive and Personalized Medicine (SFMPP) 		Tier 2
Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.
Araujo Alexandra P Q C et al. Arquivos de neuro-psiquiatria 2017 Aug 75(8) 104-113

Organization: Expert Panel 		Tier 1
Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists.
Skalet Alison H et al. Ophthalmology 2017 Oct

Organization: American College of Obstetricians and Gynecologists (ACOG) 		Tier 2
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.
Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS4-S15.e1

Organization: Expert Panel 		Tier 2
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.
Llerena Junior Juan Clinton et al. Arquivos de neuro-psiquiatria 2016 Feb 74(2) 166-76

Organization: Expert Panel 		Tier 2
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