Detection of an Inherited Deletion in Products of Conception in a Patient With Recurrent Losses and Normal Karyotype.

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.