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Updated: May 6, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
[Advanced molecular technologies for the diagnosis of congenital malformation in neonates]
Lin Yang1, Hui-Jun Wang, Guo-Ying Huang
1Department of Neonatology, Children's Hospital, Fudan University, Shanghai 201102, China. zwhchfu@126.com.
Insights
Genetic screening for congenital malformations is crucial for infant health. Advanced techniques like array comparative genomic hybridization (CGH) and next-generation sequencing (NGS) improve diagnosis and treatment for birth defects.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Context:
- Congenital malformations are a leading cause of infant mortality globally.
- Despite ongoing genetic screening efforts, mortality rates from birth defects remain high.
- Early clinical presentation of genetic diseases in newborns can be nonspecific or obscure.
Purpose:
- To highlight the diagnostic challenges in identifying congenital malformations in newborns.
- To introduce advanced genomic technologies for improved genetic screening.
- To emphasize the potential of new tools in accelerating diagnosis and treatment.
Summary:
- Array comparative genomic hybridization (CGH) and next-generation sequencing (NGS) offer high-resolution genome-wide screening.
- These techniques enable the detection of DNA copy number variants and sequencing for genetic aberrations.
- The application of CGH and NGS can expedite the diagnostic process for complex genetic disorders.
Impact:
- Accelerated diagnosis of congenital malformations.
- Facilitation of targeted treatments for infants with genetic diseases.
- Improved genetic and prognostic counseling for families.
- Potential to reduce infant mortality associated with birth defects.
Abstract:
Congenital malformation is one of the most frequent causes of infant death in western countries and major cities in China. Though genetic screening of newborns remains a hot issue and concern, the mortality rate associated with birth defects has not been significantly reduced over the past 20 years. Many genetic diseases manifest symptoms during the first 28 days of life, but full clinical symptoms might not be evident in newborns. Moreover, genetic aberrations is highly heterogeneous. These complicated factors lead to the establishment of diagnosis based on nonspecific or obscure symptoms. Recently developed array comparative genomic hybridization (CGH) and next generation sequencing (NGS) techniques with efficient high-resolution allow to screening of the entire genome for DNA copy number variants and sequencing respectively. These new and powerful tools can shorten the differential diagnosis process and quicken to movement towards targeted treatment and genetic and prognostic counseling.
