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Updated: Nov 16, 2025

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Genetic testing for unexplained perinatal disorders.

Thomas Hays¹, Ronald J Wapner^2,3

¹Division of Neonatology, Department of Pediatrics, Columbia University Irving Medical Center.

Current Opinion in Pediatrics

|February 19, 2021

Summary

This summary is machine-generated.

Genetic testing, including exome and genome sequencing, is crucial for diagnosing unknown perinatal disorders. Early genetic diagnosis improves patient outcomes and family planning.

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Area of Science:

Perinatal medicine
Medical genetics
Genomic diagnostics

Background:

Perinatal disorders like stillbirth and neonatal critical illnesses often have unknown causes.
Genetic diseases are a significant, yet frequently undiagnosed, contributor to these conditions.
Current clinical workups are often insufficient to identify the underlying etiology.

Purpose of the Study:

To review recent advancements in genetic testing for perinatal disorders of unknown etiology.
To propose a diagnostic strategy utilizing modern genetic technologies.
To highlight the clinical utility of identifying genetic causes.

Main Methods:

Exome sequencing (ES) and genome sequencing (GS) are key technologies discussed.
Review of recent studies utilizing ES and GS in fetal and neonatal cohorts.
Analysis of the impact of genetic diagnoses on clinical management.

Main Results:

ES and GS reveal that genetic diseases underlie a substantial proportion of perinatal disorders.
Many genetic diagnoses identified in recent studies are novel or case-specific.
A confirmed genetic diagnosis offers significant clinical benefits, including prognosis, therapy, and family planning.

Conclusions:

Genetic diseases are a primary cause of many perinatal disorders with nonspecific presentations.
Exome and genome sequencing are effective tools for diagnosing these conditions.
Further improvements in sampling, interpretation, and research will enhance diagnostic capabilities.