A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss.

Purpose: To evaluate the sensitivity, specificity, advantages, and limitations of multiplex ligation-dependent probe amplification compared with conventional karyotype analysis in the investigation of contributing factors to recurrent pregnancy loss.

Method: A cohort of 284 patients underwent side-by-side analysis of products of conception by both conventional karyotyping and multiplex ligation-dependent probe amplification with direct comparison of results.

Results: Multiplex ligation-dependent probe amplification was shown to enable a diagnosis for an additional 47 (16.