EMBRYOSCOPY IN RECURRENT ABORTIONS: CORRELATION OF EMBRYO MORPHOLOGY TO KARYOTYPE

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Vasilios Tanos MD, PhD1, Eleftherios Meridis MD, Demetra Georgiou PhD3 Minas Paschopoulos MD2
Areataeio Hospital, Department of Obstetrics and Gynaecology, Nicosia, Cyprus 1
Ioannina University Hospital, Department of Obstetrics and Gynaecology, Ioannina, Greece 2 Arch. Makarios III Hospital, Department of Cytogenetics, Nicosia Cyprus 3
Poland et al. in 1977 reported that the subsequent risk for spontaneous abortion after the first abortion was between 20-25% and after the second abortion the baseline risk for spontaneous abortions was about 40-50%. After three spontaneous abortions the increased risk began to level off. The risk with four or more abortions was estimated to remain at 60% chance for a good outcome in the next pregnancy. This data suggested that without considering any specific cause most couples have at least a 60% chance of delivering a live–borne infant with three or more spontaneous abortions.

The majority of studies have observed that women with 3 or more miscarriages more often have A) genetic abnormalities 3-5% (recurrent aneuploidy, structural chromosomal abnormalities, Mendelian and polygenic factors), B) uterine hereditary anatomical abnormalities and acquired uterine pathologies 15-20%, C) Immunologic abnormalities 15-25% (alloimmune aspects, opposing paternal histo-compatibility, antifetal and other antibodies), antiphospholipid antibody syndrome, hereditary thrombophilia, D) endocrine and metabolic disorders 5-8% (diabetes, hypothyroidism, polycystic ovarian syndrome, luteal phase defect, obesity, severe nutritional deprivation) even E) environmental factors 5-10% (smoking, alcohol, caffeine, occupational exposures). About 40% of RSA can not yet identify the etiology and are defined as unexplained.

Fifty six women with history of recurrent spontaneous abortions (RSA) were diagnosed with missed abortion at 7-11 weeks. These patients were previously investigated for RSA and in cases with intrauterine septum, hysteroscopic resection was performed, in cases with anticardiolipin syndrome heparine was administrated, etc. In 43% (24/56) no diagnosis of RSA etiology was established. In all cases progesterone was administrated once the pregnancy was diagnosed. Method: The patients were placed at the lithotomy position and transcervical hystero-embryoscopy of the dead embryos was performed, using a 2.7mm telescope of 30o connected to Xenon cold light of 600W. Normal saline used as a distending medium. No analgesia or anaesthesia was used for the stage of embryoscopy. The deciduas and the pregnancy sacs and their contents were investigated. General anesthesia was then applied and endometrial evacuation followed. Results: In 93% (52/56) of the cases, trans-cervical hystero-embryoscopy was successful with excellent visualization of the uterine cavity, pregnancy sac and its contents. In 93% (51/56) the fetal karyotype was available while in 5 cases the fetal samples were infected and fetal cells did not survive during the culture. Overall 29% (15/51) cases had normal karyotype. In 36 out of 51 cases, 72% an abnormal karyotype was diagnosed.

We had 21 Trisomies, 8 Turner Sy and 7 Tetrasomies were diagnosed. The chorionic, the amniotic membranes and the cloaca were also affected by the embryos chromosomal polyploidity since characteristic abnormalities were visualized. There were 10 cases that received heparine treatment in previous pregnancies and already had one child. In this study pregnancies, treated with same protocols but having a misscarriage questioned the previous successful pregnancies how were achieved. Embryoscopy demonstrated morphological problems or karyotype abnormalities confirming that the previous successful pregnancies were not achieved by chance. Conclusion: Embryoscopy in recurrent abortions seems to be helpful in diagnosis of the etiology of the misscarriage.

Correlation of the embryo external characteristics (phenotype) and embryo genetic analysis (karyotype).

Variety of possibilitiesCases%
ANormal phenotype and normal karyotype7/5114
BNormal phenotype and abnormal karyotype2/515
CAbnormal phenotype and normal karyotype7/5114
DAbnormal phenotype and abnormal karyotype34/5167