Role of Embryoscopy in Patients with Missed Abortion. A Preliminary Experience.

Abstract

Study Objective Missed abortion occurs in 10-20% of pregnancies, the most frequent cause being genetic alterations such as aneuploidies, polyploidies, or monosomies. Embryoscopy is the direct visualization of the embryo by hysteroscopy. It allows to collect targeted biopsy of the embryo and trophoblast for genetic analysis minimizing the change of maternal contamination of the specimen To describe the hysteroscopic findings and the genetic results of the embryoscopies performed between January 2020 and 2021 at the Sanatorio Finochietto in Buenos Aires Argentina. Design We present a case series of 55 consecutive embryoscopies performed in patients diagnosed with missed abortion during the first trimester. Embryo and trophoblast biopsies under direct visualization were collected when possible. Setting Ambulatory hysteroscopy unit. Patients or Participants Patients diagnosed with missed abortion during the first trimester of pregnancy. Interventions Diagnostic embryoscopy with embryo and trophoblast biopsy. Measurements and Main Results 55 embryoscopies were performed in patients between 28 and 45 years old with a diagnosis of missed abortion. The average gestational age was 7.2 weeks. Of these, 38 genetic biopsies were collected, 13 patients had a normal karyotype, 13 had chromosomal abnormalities (10 trisomies, 3 triploidies) and in 12 the specimen was inadequate for evaluation. Embryoscopy revealed 5 macroscopic malformations, 3 in patients with normal type, and two with alterations, which presented syndactyly and hydrocephalus, prominent umbilical herniation. Conclusion Embryoscopy allows direct visualization of the morphological alterations of the embryos, obtain a direct biopsy for its genetic study, and evaluate the uterine cavity. This procedure could be very useful in couples with missed abortions, since it provides significant information for genetic counseling. Missed abortion occurs in 10-20% of pregnancies, the most frequent cause being genetic alterations such as aneuploidies, polyploidies, or monosomies. Embryoscopy is the direct visualization of the embryo by hysteroscopy. It allows to collect targeted biopsy of the embryo and trophoblast for genetic analysis minimizing the change of maternal contamination of the specimen To describe the hysteroscopic findings and the genetic results of the embryoscopies performed between January 2020 and 2021 at the Sanatorio Finochietto in Buenos Aires Argentina. We present a case series of 55 consecutive embryoscopies performed in patients diagnosed with missed abortion during the first trimester. Embryo and trophoblast biopsies under direct visualization were collected when possible. Ambulatory hysteroscopy unit. Patients diagnosed with missed abortion during the first trimester of pregnancy. Diagnostic embryoscopy with embryo and trophoblast biopsy. 55 embryoscopies were performed in patients between 28 and 45 years old with a diagnosis of missed abortion. The average gestational age was 7.2 weeks. Of these, 38 genetic biopsies were collected, 13 patients had a normal karyotype, 13 had chromosomal abnormalities (10 trisomies, 3 triploidies) and in 12 the specimen was inadequate for evaluation. Embryoscopy revealed 5 macroscopic malformations, 3 in patients with normal type, and two with alterations, which presented syndactyly and hydrocephalus, prominent umbilical herniation. Embryoscopy allows direct visualization of the morphological alterations of the embryos, obtain a direct biopsy for its genetic study, and evaluate the uterine cavity. This procedure could be very useful in couples with missed abortions, since it provides significant information for genetic counseling.