Embryoscopy and targeted embryo biopsy for the management of early abortion.

Abstract

Purpose: To evaluate the safety, accuracy, and effectiveness of embryoscopy for the management of early abortion and to test the hypothesis that targeted embryo and chorionic villi sampling avoids maternal cell contamination (MCC) for genetic testing of products of conception (POC).

Methods: This ambispective study included 74 consecutive patients presenting with early abortion. Gestations between 5 and 9 weeks, obtained either spontaneously or through assisted reproductive technologies were included. Embryoscopies were performed under transabdominal ultrasound guidance using a 5-mm hysteroscope and forceps and scissors for sampling and resection of the gestational sac. Primary outcomes were the feasibility of the technique, the diagnostic accuracy as measured by absence of maternal cell contamination and the complication rate. The secondary outcome was the comparison between array-comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a subgroup of 20 patients.

Results: Seventy-four consecutive procedures were performed, with no cases of maternal contamination and no complications. In 60 patients, a follow-up sonohysterography was performed which showed a normal cavity. The remaining 14 patients had a normal transvaginal ultrasound 1 month after the embryoscopy. In the subgroup of 20 patients analyzed by both aCGH and NGS, we had one case of MCC with aCGH and none with NGS. Differences were found in the detection of mosaicism and triploidy.

Conclusion: Embryoscopy for uterine evacuation minimizes maternal contamination and post-operative complications. Safe and rapid embryoscopy furnishes prompt and reliable genetic analysis of POC that is of great importance in clinical management of early pregnancy failure.