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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
Lisa G Shaffer1, Mindy P Dabell, Allan J Fisher
1Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA. lisa.shaffer@perkinelmer.com
Prenatal Diagnosis
|August 7, 2012
Summary
Microarray testing significantly improves prenatal diagnosis by detecting copy number alterations (CNAs) missed by conventional methods. This advanced technique offers higher detection rates for chromosomal abnormalities in prenatal samples.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Genomic Medicine
Background:
- Conventional cytogenetics has limitations in detecting smaller chromosomal abnormalities.
- Prenatal diagnosis relies on accurate identification of genetic disorders.
Purpose of the Study:
- To evaluate the utility of microarray testing in prenatal diagnosis.
- To compare microarray performance against conventional cytogenetic methods.
Main Methods:
- Utilized comparative genomic hybridization-based microarrays on 5003 prenatal samples.
- Employed microarrays targeting known chromosomal syndromes and whole-genome coverage.
Main Results:
- Detected clinically significant copy number alterations (CNAs) in 5.3% of unbiased cases.
- Microarray identified CNAs below the resolution of conventional karyotyping in 71% of significant findings.
- Higher detection rates observed in cases with abnormal ultrasounds (6.5%) and fetal demise (8.2%).
Conclusions:
- Microarray analysis offers superior precision in characterizing CNAs compared to conventional cytogenetics.
- Microarrays detect clinically significant CNAs even in cases with seemingly normal karyotypes.
