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Updated: Mar 1, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Detection of an Inherited Deletion in Products of Conception in a Patient With Recurrent Losses and Normal Karyotype
Jeffrey Thorne1, Alicia Craffey, John C Nulsen
1Division of Reproductive Endocrinology & Infertility and Division of Genetics and Genomic Sciences, University of Connecticut Health Center, Farmington, Connecticut.
Background:
Microarray analysis testing on products of conception can provide valuable information in the evaluation of recurrent pregnancy loss beyond ploidy status.
Case:
A maternally inherited deletion on the X chromosome was detected by microarray analysis performed on products of conception in a couple with recurrent pregnancy loss. The mother had a previously demonstrated normal karyotype with standard cytogenetic analysis but was subsequently determined to have the same X chromosome deletion by oligonucleotide single-nucleotide polymorphism (SNP) microarray analysis.
Conclusion:
Direct testing of products of conception using oligonucleotide SNP microarray identified a maternally inherited microdeletion on the X chromosome in a patient with recurrent losses and normal karyotype. Going forward, the couple may use preimplantation genetic diagnosis testing to identify embryos free of this deletion for transfer.
