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Updated: Jun 2, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos
Nathan R Treff1, Xin Tao, Wendy J Schillings
1Reproductive Medicine Associates of New Jersey Research, 111 Madison Avenue, Suite 100, Morristown, NJ 07960, USA. ntreff@rmanj.com
Objective:
To prove the ability to distinguish between balanced and normal chromosomes in embryos from a translocation carrier.
Design:
Case report.
Setting:
Academic center for reproductive medicine.
Patient(S):
Woman with a balanced translocation causing Alagille syndrome seeking preimplantation genetic diagnosis (PGD).
Intervention(S):
Blastocyst biopsy for PGD.
Main Outcome Measure(S):
Consistency of 3 methods of embryo genetic analysis (real-time polymerase chain reaction, single nucleotide polymorphism [SNP] microarray, and fluorescence in situ hybridization [FISH]) and normalcy in the newborn derived from PGD.
Result(S):
PGD was applied to 48 embryos. Real-time polymerase chain reaction, SNP microarray, and FISH demonstrated 100% consistency, although FISH failed to detect aneuploidies observed by comprehensive SNP microarray-based analyses. Two blastocysts were identified to be normal for all 3 factors using SNP microarray technology alone. The 2 normal embryos were transferred back to the patient, resulting in the delivery of a healthy boy with a normal karyotype.
Conclusion(S):
This is the first report of validation and successful clinical application of microarray-based PGD to distinguish between balanced and normal chromosomes in embryos from a translocation carrier.
Related Concept Videos
01:17Karyotyping
02:34DNA Microarrays