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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Common neonatal syndromes
1Department of Genetics, Permanente Medical Group, Sacramento, CA, USA. mark.lipson@kp.org
Insights
Diagnosing genetic syndromes in newborns involves addressing parental anxiety and grief. This article offers an approach to diagnosis and discusses common genetic syndromes encountered in nurseries.
Area of Science:
- Medical Genetics
- Neonatology
- Pediatric Care
Background:
- Newborn genetic syndrome diagnosis occurs amid parental anxiety and grief.
- Nursery staff aim to provide families with accurate prognostic information.
Purpose of the Study:
- To outline an approach for diagnosing genetic syndromes in newborns.
- To discuss frequently observed genetic syndromes in the nursery setting.
Main Methods:
- Review of diagnostic approaches for genetic syndromes in neonates.
- Discussion of common genetic syndromes based on clinical observations.
Main Results:
- A structured approach aids in the timely diagnosis of genetic syndromes.
- Identification of specific genetic syndromes with notable frequency in newborns.
Conclusions:
- Effective diagnostic strategies are crucial for managing genetic syndromes in newborns.
- Informed prognosis empowers families facing genetic diagnoses.
Abstract:
The process of diagnosis of genetic syndromes in the newborn period is carried out in the context of parental anxiety and the grief following an often-unexpected outcome after a long pregnancy. The nursery staffs invariably have a strong interest in giving the family proper information about prognosis. This article is intended to focus on an approach to the diagnosis of genetic syndromes and to discuss specific syndromes that may be seen with some frequency in the nursery.
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