Rouleau Jean Paul, Hernández Jairo, Costa Manuela, Gordon Tony, Xanthopoulou Leoni, Martín-Vasallo Pablo, Naftolin Frederick, Palumbo Angela
Centro de Asistencia a La Reproducción Humana de Canarias, La Laguna, Santa Cruz de Tenerife, Spain.
CooperSurgical, Translation and Innovation Hub, 84 Wood Lane, London, W12 0BZ, UK.
J Assist Reprod Genet. 2025 Feb;42(2):655-664. doi: 10.1007/s10815-024-03356-7. Epub 2025 Jan 7.
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).
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.
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.
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.
评估胚胎镜检查在早期流产处理中的安全性、准确性和有效性,并验证靶向胚胎和绒毛取样可避免母细胞污染(MCC)用于妊娠产物(POC)基因检测的假说。
这项回顾性研究纳入了74例连续的早期流产患者。纳入自然受孕或通过辅助生殖技术获得的5至9周妊娠。在经腹超声引导下,使用5毫米宫腔镜及镊子和剪刀进行胚胎镜检查,以取样和切除妊娠囊。主要结局指标为该技术的可行性、通过无母细胞污染衡量的诊断准确性以及并发症发生率。次要结局指标为20例患者亚组中阵列比较基因组杂交(aCGH)和下一代测序(NGS)之间的比较。
连续进行了74例手术,无母细胞污染病例及并发症。60例患者进行了后续的宫腔超声检查,显示宫腔正常。其余14例患者在胚胎镜检查后1个月经阴道超声检查正常。在同时采用aCGH和NGS分析的20例患者亚组中,aCGH检测到1例MCC,而NGS未检测到。在嵌合体和三倍体的检测上发现了差异。
用于清宫的胚胎镜检查可最大程度减少母细胞污染和术后并发症。安全、快速的胚胎镜检查可为POC提供及时、可靠的基因分析,这在早期妊娠失败的临床处理中非常重要。