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Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Current Genetic Testing Tools in Neonatal Medicine.

Seema R Lalani¹

¹Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Pediatrics and Neonatology

|March 10, 2017

Summary

Genetic diseases in newborns require prompt recognition and evaluation. Advances in genetic testing, including next-generation sequencing, are crucial for diagnosing neonatal genetic conditions and improving newborn screening.

Keywords:

chromosomal microarray analysis genetic diseases neonatal medicine whole exome sequencing

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Area of Science:

Neonatal Medicine
Medical Genetics
Genomic Medicine

Background:

Genetic diseases pose a significant health burden in newborns.
Rapid advancements in genetic diagnostic tools necessitate updated healthcare provider knowledge.
Genetic assessment is integral to modern medical practice.

Purpose of the Study:

To review essential genetic concepts for neonatal care.
To outline available genetic testing methods for early diagnosis.
To describe common genetic disorders in neonates.

Main Methods:

Review of current literature on genetic diseases in neonates.
Explanation of basic genetic principles and terminology.
Description of various genetic testing modalities, including massively parallel sequencing and next-generation sequencing.

Main Results:

Next-generation sequencing enables rapid diagnosis of genetic conditions in neonates.
Noninvasive prenatal diagnosis is increasingly utilizing next-generation sequencing.
Genetic testing is becoming a vital part of newborn screening protocols.

Conclusions:

Healthcare providers need robust knowledge of genetic diseases and diagnostic tools for neonatal care.
Genetic assessment is indispensable for identifying and managing neonatal genetic disorders.
Advanced sequencing technologies are transforming the landscape of neonatal genetic diagnostics and screening.