Transcervical Embryoscopy Research Articles

Direct embryonic biopsy with transcervical embryoscopy is an effective method for karyotyping and morphology assessment in miscarriages

PurposeThe main purpose of this study is to compare the validity of transcervical embryoscopy method with standard uterine evacuation method in detecting more accurate karyotypes in miscarriages below tenth week of pregnancy. Additionally, the frequency and distribution of fetal morphological abnormality were evaluated.MethodsA prospective study was carried out at the Gazi University Faculty of Medicine, Department of Obstetrics and Gynecology. Patients with missed abortions between sixth and tenth gestational weeks were included in the study group, and fetal morphological examination and direct embryonic biopsy were performed by transcervical embryoscopy. The control group consisted of patients who experienced miscarriage and genetic material obtained from routine uterine evacuation between February and October 2023.ResultA total of 60 patients in the study group and 189 patients in the control group were evaluated. The median ages, previous miscarriage numbers, median gravida numbers, and median gestational weeks were comparable between groups. Chromosomal abnormality was detected in 24 (42.8%) and 52 embryos (29.9%) in the study and control groups, respectively (p = 0.004). Culture failure rates were 6.6% (n = 4) and 7.9% (n = 15) in the study and control groups, respectively. In the study group, 12 embryos had a morphological abnormality in which 6 of them had normal karyotype.ConclusionDirect embryonic biopsy with transcervical embryoscopy is an effective method to exclude maternal decidual cell contamination and placental mosaicism in miscarriages for karyotype analysis. In addition, detecting anomalies in morphology might contribute our understanding in the process of miscarriages which arises independent from structural/numerical chromosomal abnormalities.

Transcervical embryoscopy might be useful to diagnose undefined morphological abnormalities in fetuses ended with missed abortion

Transcervical embryoscopy might be useful to diagnose undefined morphological abnormalities in fetuses ended with missed abortion

Endogenous retrotransposons cause catastrophic deoxyribonucleic acid damage in human trophoblasts

To determine the mechanistic role of mobile genetic elements in causing widespread DNA damage in primary human trophoblasts. Experimental ex vivo study SETTING: Hospital-affiliated University PATIENT(S): Trophoblasts from a patient with unexplained recurrent pregnancy loss and patients with spontaneous and elective abortions (n=10) INTERVENTION(S): Biochemical and genetic analysis and modification of primary human trophoblasts. To phenotype and systematically evaluate the underlying pathogenic mechanism for elevated DNA damage observed in trophoblasts derived from a patient with unexplained recurrent pregnancy loss, transcervical embryoscopy, G-band karyotyping, RNASeq, qPCR, immunoblotting, biochemical and siRNA assays, and whole-genome sequencing were performed. Transcervical embryoscopy revealed a severely dysmorphic embryo that was euploid on G-band karyotyping. RNASeq was notable for markedly elevated LINE-1 expression, confirmed with qPCR and that resulted in elevated expression of LINE-1-encoded proteins, as shown by Immunoblotting. Immunofluorescence, biochemical and genetic approaches demonstrated that overexpression of LINE-1 caused reversible widespread genomic damage and apoptosis. De-repression of LINE-1 elements in early trophoblasts results in reversible but widespread DNA damage.

Transcervical Embryoscopy: Images of First-Trimester Missed Abortion

Transcervical embryoscopy is a hysteroscopy performed before obstetric curettage in cases of first-trimester missed abortion. It allows clear visualization of the demised embryo ‘‘in uterus,’’ adding useful information for the diagnosis of the cause of pregnancy failure [1]. The procedure is performed with the patient under general anesthesia and in the dorsolithotomy position, before obstetric curettage in patients with ultrasonographic diagnosis of fetal demise during the first trimester of pregnancy [2]. With a 5-mm 30-degree angle rigid hysteroscope and 0.9% normal saline solution, with pressures between 50 to 100 mm Hg, the vagina, cervical canal, uterus, tubal ostium, parietal decidua, and chorion are visualized. The opening of

386: Transcervical Embryoscopy: Early Experience in First Trimester Missed Abortion

The purpose of this video is to show our early experience in transcervical embryoscopy, a new technique for evaluating first trimester missed abortion, with a 5 mm 30 degree angle histeroscope. The procedure prior to obstetric curetage is described and various phenotype anomalies of demised embryos in uterus are shown.

Embryofetoscopy: a new “old” tool

Embryoscopy is the direct visualization of the embryo between 5 and 8 weeks’ gestational age. Fetoscopy is the direct visualization of the fetus after 8 weeks of gestation. Both are performed by inserting a fiber-optic scope, either transabdominally or transcervically, into the extracelomic space when the procedure is done before 11 weeks or inside the amniotic cavity when it is done after 11 weeks. Embryofetoscopy is likely to find applications in confirming and further clarifying our knowledge of embryonic development and in the prenatal investigation of high-risk pregnancies for recurrent genetic disorders. Further evolution of endoscopic instruments and embryoscopic technique could give embryofetoscopy a potential for early gene and cell therapy as well as for surgery in utero. We also present our preliminary experience using transcervical embryoscopy for direct visualization of the 1st-trimester embryo in women opting to terminate pregnancy.

Effects of triploidy on early human development.

The morphologic features of 18 triploid embryos are described. Embryoscopic examination of the embryo in cases of missed abortion before instrumental evacuation from the uterus. Cytogenetic and histologic analysis of the chorionic villi. Seventeen out of 18 triploid embryos showed structural defects on embryoscopic examination. The most common defects were facial anomalies (n = 15), limb abnormalities (n = 13), microcephaly (n = 11) and neural tube defects (n = 10); 3 embryos were classified as growth disorganized. Placenta of 12 grossly abnormal embryos was diagnosed as partial hydatidiform moles on histological examination. The grossly abnormal development of the embryo observed in 12 partial hydatidiform moles indicate that, in aborted triploid embryos, the presence of two paternal genomes might have both placental and embryonic consequences. Transcervical embryoscopy in cases of missed abortion can serve as a central component in additional studies using molecular determination of parental origin of triploidy to establish the true proportion of diandric triploidy among grossly abnormal triploid embryos.

Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnancies.

While chromosomal abnormalities are often the cause of missed abortions, other defects could be involved, which might be screened for by transcervical embryoscopy. A total of 272 patients with missed abortion underwent transcervical embryoscopy prior to dilatation and curettage, together with cytogenetic analysis of chorionic villi, using either standard G-banding cytogenetic techniques or comparative genomic hybridization in combination with flow cytometry analysis. Visualization of the embryo or early fetus (12 cases) was successful in 233 patients, and karyotyping in 221. Among 233 examined cases, 33 had normal external features, 71 were classified as growth-disorganized and 129 had either isolated or multiple defects, including holoprosencephaly, anencephaly, encephalocele, spina bifida, microcephaly, facial dysplasia, limb reduction defect, cleft hand, syndactyly, pseudosyndactly, polydactyly, various forms of cleft lip and an amniotic adhesion. Of the 165 cases with an abnormal karyotype, there were 46 grossly disorganized embryos, 98 multiple defects, six single defects and 15 morphologically normal cases. Of the 56 cases with a normal karyotype, there were 20 grossly disorganized embryos, 16 multiple defects, four single defects and 16 morphologically normal cases. A total of 75% of the cases with missed abortion had an abnormal karyotype, 18% had a morphological defect with a normal karyotype, while no embryonic or chromosomal abnormality could be diagnosed in 7% of the cases. Correlation of morphological and cytogenetic findings in spontaneous abortion specimens could provide valuable information for genetic counselling and prenatal care in future pregnancies in couples with a history of repeated pregnancy loss.

Morphology of the 45,X embryo: an embryoscopic study.

The morphology of monosomy X in embryos was documented by means of transcervical embryoscopy prior to evacuation in 24 cases of missed abortion. The embryos ranged in size from 13 mm to 26 mm CRL and were all developed beyond the sixth week of development. The embryonic phenotype varied from nearly normal to obviously abnormal with a combination of localized external developmental defects consisting of microcephaly, facial dysplasia, and retarded limb development. A single case of encephalocele was observed. The factors responsible for the wide range of developmental defects observed in monosomy X embryos are currently unknown. Transcervical embryoscopy can serve as a central component for further genetic studies elucidating these mechanisms which are needed for reaching a further understanding of the developmental effects of specific aneuploidy in human morphogenesis.

Generalized abnormal embryonic development in missed abortion: embryoscopic and cytogenetic findings.

A direct view of the embryo by means of transcervical embryoscopy prior to evacuation in 154 cases of missed abortion showed general embryonic maldevelopment in 48 cases (31%). A successful cytogenetic evaluation of these growth-disorganized embryos was performed in 37. Chromosomal abnormalities were found in 26 cases (70%), with autosomal trisomies in 24 cases (92%). Trisomies involved chromosome 3 (one case), 6 (one case), 8 (two cases), 10 (one case), 12 (two cases), 14 (one case), 16 (11 cases), 20 (one case), and 22 (four cases). Most of these chromosome abnormalities represented nonviable defects, and their presence explained the minimal embryonic development observed embryoscopically. An apparently normal karyotype was observed in 11 growth-disorganized embryos whose maldevelopment was similar to that resulting from the trisomies listed above. The factors responsible for embryonic maldevelopment with a normal karyotype are presently unknown and require further study, including investigation of imprinting defects, subtelomeric abnormalities, and cryptic mosaicism.

Neural tube defects in missed abortions: embryoscopic and cytogenetic findings.

Transcervical embryoscopy, a new technique for direct visualization of the first trimester conceptus was carried out in 116 cases of missed abortion. Embryonic neural tube defects and other localized developmental defects, were diagnosed in 10 out of 99 cases in which a complete embryoscopic evaluation was possible. All eight successfully karyotyped cases had a numerical chromosomal abnormality. A ninth unkaryotyped embryo with open spina bifida showed, on embryoscopy, a malformation pattern highly suggestive of triploidy. Our embryoscopic and cytogenetic findings provide valuable information for genetic counseling in future pregnancies.

Transcervical embryoscopy in missed abortion.

The present study was conducted to determine the usefulness of transcervical embryoscopy in diagnosing localized and systemic defects in embryonic morphogenesis of missed abortions. The study population consisted of 24 women with the final diagnosis of missed abortion. Prior to the instrumental evacuation of the uterus a rigid hysteroscope was passed transcervically into the amniotic cavity to obtain a detailed view of the embryo. Karyotyping was attempted in all cases included in this study. An embryo could be visualized in 19 cases. Ten embryos showed multiple developmental defects. In cases of early failure of pregnancy, embryoscopy permits visualization of the embryo in utero, unaffected by the damage usually caused by its instrumental evacuation or spontaneous passage. This technique can be a helpful tool for pathologists and geneticists in enhancing their understanding of human embryonic malformations, but more importantly, it improves clinical care and follow-up, especially in cases of repeated abortions.

Embryoscopic demonstration of hemorrhagic lesions on the human embryo after placental trauma

The purpose of this study was to evaluate embryoscopically the effect of placental trauma on the human embryo. Patients undergoing elective first-trimester termination of pregnancy underwent transcervical embryoscopy both before and after chorionic villus sampling. If hemorrhagic lesions were not observed on the fetus after chorionic villus sampling, partial placental detachment was performed with a blunt instrument, and the fetus was again observed. Hemorrhagic lesions were observed in 20 of 43 fetuses. In 13 of them, the lesions occurred after placental trauma with the chorionic villus sampling catheter alone (30%), whereas lesions were observed in the remaining seven patients after additional blunt placental disruption. The lesions were located most frequently on the cephalic region, and they grew in size during the observation period. Gestational age or amount of chorionic villus sampling tissue was not different between fetuses with or without lesions. Placental trauma results in embryoscopically demonstrable hemorrhagic lesions on the human embryo. Whereas some of these lesions may be of no consequence, others may lead to permanent changes. If similar lesions occur in deeper tissues, they could cause disruptions in development and conceivably could be related to anomalies reported in infants born to women who have had chorionic villus sampling procedures. Embryoscopy affords the opportunity to study possible mechanisms involved in the occurrence of anomalies.

A preliminary report about transcervical embryoscopy.

Transabdominal amniocentesis and occasionally fetoscopy are used as a means of early diagnosis of fetal damage or abnormality after the 14th week of pregnancy. For medical reasons a still earlier method of diagnosis is desirable. We report about the transcervical approach- using CO2-gas-hysteroscopy to visualize the amnion sac and its contents.