Genetic testing of products of conception in recurrent pregnancy loss evaluation

Elias M Dahdouh; William H Kutteh

doi:10.1016/j.rbmo.2021.03.015

Genetic testing of products of conception in recurrent pregnancy loss evaluation

Reprod Biomed Online. 2021 Jul;43(1):120-126. doi: 10.1016/j.rbmo.2021.03.015. Epub 2021 Mar 23.

Authors

Elias M Dahdouh¹, William H Kutteh²

Affiliations

¹ Assisted Reproduction Technology Centre, Department of Obstetrics and Gynecology, CHU Sainte-Justine, Montreal QC, Canada; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Montreal, Montreal QC, Canada. Electronic address: elias.dahdouh@umontreal.ca.
² Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville TN, USA; Recurrent Pregnancy Loss Center, Fertility Associates of Memphis, Memphis TN, USA.

PMID: 33926784
DOI: 10.1016/j.rbmo.2021.03.015

Abstract

Genetic testing of products of conception (POC) has been proposed as a tool to be used in the evaluation of patients with recurrent pregnancy loss (RPL). Following a complete RPL evaluation, POC results may reveal an aneuploidy and provide an explanation for the miscarriage in more than 55% of cases. When the cytogenetic result of the pregnancy loss reveals a euploid pregnancy, management should be directed towards the identification of treatable abnormalities. Furthermore, the results of POC testing might better define a subgroup of patients with unexplained RPL who may benefit from expectant management versus preimplantation genetics (aneuploid unexplained RPL) or investigational therapy (euploid unexplained RPL).

Keywords: Chromosomal microarray; Genetic analysis; Preimplantation genetic testing; Products of conception; Recurrent pregnancy loss.

Publication types

Review

MeSH terms

Abortion, Habitual / pathology*
Female
Fetus / pathology*
Genetic Testing*
Humans
Pregnancy