WHO Newborn Surface Examination
This video shows how to assess a newborn for birth defects. Sometimes, birth defects can be linked to drug exposure during the pregnancy. However, early assessment for birth defects through newborn screening can also show that a treatment need not be contraindicated in pregnancy, because it has no risk for adverse outcomes. This screening can help get life-saving treatments to the mother, child or both. The training for this DVD was carried out by Prof Lewis Holmes, who trained Ghanaian nurse/midwives in a small facility outside Accra. After training, the health workers were filmed carrying out the assessments themselves. This DVD, developed by the World Health Organization through TDR and the Reproductive Health and Research Programme has been successfully used to train other health workers in five countries (four in Africa and one in South America). It supports a new protocol for a pregnancy registry.
For French captions of the video, please choose CC in the bottom bar to obtain the French captions.
Physical Examination of the Newborn with a Focus on the Diagnosis of Congenital Anomalies
A video of the Brazilian Ministry of Health. In Portuguese.
View here plataforma.saude.gov.br/anomalias-congenitas/video-exame-fisico-recem-nascido.mp4
Global Birth Defects App
The Global Birth Defects Description and Coding (GBDDC) App, a freely available app found on Google Play and the App Store, is for use in areas where local expertise in congenital anomaly diagnosis is scarce. The purpose of the App is to improve the description and coding of major externally visible congenital anomalies for surveillance and research. It can also be used for training health professionals.
Paediatric Surgery: A Comprehensive Text for Africa
Produced by Global HELP, professional editors, and more than one-hundred-and-fifty medical experts from around the world, this is an essential resource for those in Africa where there has been a lack of appropriate and affordable medical material. This is a book written by doctors who live or work in Africa and for African surgeons and patients alike. This textbook can be used for diagnosis and coding also.
Intergrowth 21st Project - Head circumference training video
The International Fetal and Newborn Growth Consortium for the 21st Century, or INTERGROWTH-21st, is a global, multidisciplinary network of more than 300 researchers and clinicians from 27 institutions in 18 countries worldwide. They are dedicated to improving perinatal health globally and committed to reducing the millions of preventable newborn deaths that occur as a result of preterm birth or poor intrauterine growth. Their training video demonstrates the correct and standardised method of measuring the head circumference of a newborn.
Watch this video about INTERGROWTH-21st
National Health Mission, Ministry of Health and Family Welfare, Government of India - Comprehensive Newborn Screening
This handbook has been developed for field-level healthcare workers positioned at delivery points to serve as a ready reference for conducting screening of visible birth defects and their reporting. The document has four main sections: identification, recording & reporting, initial management, and counselling for parents.
Access Comprehensive Newborn Screening
For all Ministry of Health, Government of India resources under the RBSK programme, see here RBSK-Resource-Materials :: National Health Mission (nhm.gov.in)
Helping ASHAs identify Birth Defects
Helping ASHAs Identify Birth Defects English.pdf
International Interdisciplinary Consensus Meeting on the Evaluation of Developmental Dysplasia of the Hip
Learn more about the RBSK programme
Pulse Oximetry Screening for Congenital Heart Disease
Pulse Oximetry screening is an important screening for critical congenital heart disease. This video, from the Popsicle study in South Africa, explains the point of view of clinicians and parents.
Updated Strategies for Pulse Oximetry Screening for Critical Congenital Heart Disease
Pulse oximetry is a simple and important tool to screen for critical congenital heart disease.
This video, from the Popsicle study in South Africa, explains the point of view of clinicians and parents.
This paper, accompanied by a 5 minute video, presents the updated recommendations for the United States, with global relevance.
Atlas of Human Malformation Syndromes in Diverse Populations. National Human Genome Research Institute (NHGRI)
The purpose of this atlas is to provide an online tool that can be used to assist clinicians with the diagnosis of human malformation syndromes in diverse populations globally. The atlas is still under construction and has a select number of syndromes available at present, such as Down, Turner, Angelman and Sotos Syndrome. There is also a facility that allows the user to contribute photographs to the atlas with appropriate consent.
Information on Genetic Syndromes
Specialist information on genetic syndromes, useful for those practicing in clinical genetics, but a number of resources may also be useful to the general physician/pediatrician.
Orphanet - Encyclopaedia for Patients and Encyclopaedia for Professionals
Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services including an encyclopaedia of rare diseases in six languages, an inventory of orphan drugs, a directory of specialised services, emergency care and anaesthetic guidelines for specific conditions and access to the Orphanet data.
Online Mendelian Inheritance in Man (OMIM)
OMIM is an online catalogue of human genes and genetic disorders. Extensive information is available on the clinical features, genotype, inheritance, pathogenesis, diagnosis and management of each condition. It is produced and curated at the Johns Hopkins University School of Medicine.
Human Phenotype Ontology
The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains approximately 11,000 terms (still growing) and over 115,000 annotations to hereditary diseases. The HPO also provides a large set of HPO annotations to approximately 4000 common diseases.
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NCBI Bookshelf GeneReviews
GeneReviews is a resource intended for clinicians, in particular those working in the field of Clinical Genetics. It contains up to date, peer reviewed clinical information on the diagnosis and management of an extensive range of genetic disorders as well as their recurrence risks and information on genetic counselling.
Face2Gene
Face2Gene can be used online or as an App as a reference tool regarding syndrome diagnosis. The user takes a photo of the face of the patient, and inputs additional phenotypic information, which will then be matched to possible syndromes. Face2Gene is designated to be used solely by healthcare professionals and should not be used by anyone without proper medical training. It is a search & reference tool provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions. The App is free, but extra resources are available with a paid subscription.
Possum web database
POSSUMweb is a dysmorphology database of multiple malformations, metabolic, teratogenic, chromosomal and skeletal syndromes and their images - for learning and diagnosis. The platform provides a flexible search facility, saves time and effort in researching and cross-referencing syndrome information.
Please note that POSSUMweb requires a PAID subscription.
National Organization for Rare Disorders (NORD)
The National Organization for Rare Disorders is a non-profit organization that provides information for both families and their healthcare providers. It also acts as a patient advocacy body and assists patients with access to specialist treatments. NORD also administers research grants to encourage the study of rare diseases.
U.S. National Library of Medicine. Genetics Home Reference
Genetics Home Reference is the National Library of Medicine website for consumer information about genetic conditions and the genes or chromosomes associated with those conditions. Information is available on genes, chromosomes, mitochondrial DNA and their associated health conditions.
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Current Topics in Genome Analysis 2016
A series of 14 lectures covering contemporary areas in genomics and bioinformatics.
Access Current Topics in Genome Analysis 2016
National Human Genome Research Institute (NHGRI)
The NHGRI is a division of the National Institutes of Health (NIH). It was established to carry out the role of the NIH in the International Human Genome Project. The website contains online education toolkits, talking glossaries of genetic terms (which can also be downloaded as Apps), fact sheets, teaching resources, a genomic medicine lecture series as well as in depth information on the funding and planning of research activity.
The USA's Newborn Screening Clearinghouse
This site serves as a clearinghouse for local, state, and national newborn screening information (in English and Spanish) in the United States. It contains a Prenatal and Newborn Screening Brochure that was published in July 2019 with useful infographics for parents expecting a baby. The clearinghouse provides current educational and family support and services information, materials, and resources about newborn screening.
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Online Course in Embryology for Medical Students
Available in French, German and English.
Produced by Universities of Fribourg, Lausanne and Bern
The teaching goals of the web-based training in embryology are to:
- foster a knowledge of both the mechanisms underlying human gamete development and fusion to form a new organism, and of those directing the subsequent growth, maturation and differentiation of organs and systems.
- cultivate an awareness of the problems possibly occurring at different stages of organ development and of the malformations arising therefrom.
- foster an appreciation of how the environment and drugs can influence embryological development.
- promote competence in the counselling of parents with malformed children.