Cases reported "Abortion, Spontaneous"

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1/12. Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings.

    Preimplantation genetic diagnosis (PGD) was performed in two couples to avoid chromosomally unbalanced progeny in a family in which a brother and a sister carry an identical maternally inherited balanced translocation t(3;11)(q27.3;q24.3). Embryos were biopsied 3 days after fertilization and blastomeres were analysed by fluorescent in-situ hybridization (FISH). Embryos were classified as unbalanced or normal/balanced. In the first case, the male carrier and his wife underwent one IVF/PGD treatment cycle. In all, 18 embryos were analysed. Of those, 15 revealed an unbalanced karyotype. For one embryo, results were not conclusive, from one embryo results were contradictory and one embryo was classified as normal/balanced and subsequently transferred. A singleton pregnancy was achieved. The PGD analysis was confirmed at 16 weeks gestation by amniocentesis. At term, a healthy girl with a balanced karyotype was born. pregnancy and delivery were without complications. In the second case, the female carrier and her husband underwent two IVF/PGD treatment cycles. During the first cycle, three embryos were analysed. One embryo revealed an unbalanced karyotype and two embryos were designated a normal/balanced karyotype and transferred but no pregnancy was achieved. During the second PGD cycle three embryos were analysed. Of those, none appeared suitable for transfer. The couple decided not to undergo further treatment. Our results indicate that for individuals carrying a reciprocal translocation PGD is a feasible approach to obtain embryos with a normal chromosome balance and to avoid both spontaneous and induced abortion.
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2/12. ovulation induction and early pregnancy loss in a woman susceptible to autoimmune diseases: a possible interrelationship.

    We report a 34-year-old woman with sequentially occurring autoimmune diseases that are possibly triggered by numerous ovulation inductions. At the ages of 26-32 years, she experienced 27 uncontrolled ovulation induction cycles using clomiphene citrate (CC) or CC plus human menopausal gonadotropin plus human chorionic gonadotropin. She became pregnant at the ages of 27, 30 and 31 with subsequent pregnancy loss in the 28th, 8th and 10th week of gestation, respectively. insulin-dependent diabetes mellitus (IDDM) developed at the age of 28. During the second year of ovulation induction, at the age of 27, she developed arthralgia that worsened and became migratory from the age of 31. thrombocytopenia appeared at the age of 33. The diagnosis of systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) was established at the age of 34. To the best of our knowledge, this is the first case of concurrent IDDM, SLE and APS in a patient associated with ovulation inductions. Excessive levels of estradiol achieved during the ovulation inductions could play a role in the expression of multiple autoimmune diseases in the susceptible woman.
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3/12. Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements.

    OBJECTIVES: Chromosomal rearrangements can lead to infertility or repeated spontaneous or induced abortions. The use of preimplantation genetic diagnosis (PGD) allows the selected transfer of chromosomally balanced embryos. The aim of this study was to carry out detailed analysis of the outcome of 11 PGD cycles for 8 patients carrying various chromosomal rearrangements. methods: patients underwent routine in vitro fertilisation with biopsy of embryos on day 3. Specific fluorescent in situ hybridisation protocols were developed for each couple. embryo transfer was possible in all 11 cycles. RESULTS: The outcome was four pregnancies, leading to three live births and one biochemical pregnancy. Post-zygotic mosaicism was detected in 75% of untransferred embryos, the majority of which were chaotic. Detailed follow-up and analysis provided evidence for the co-existence of chromosomally balanced and abnormal cells in six embryos. The mechanisms involved included chromosome breakage and loss of material. CONCLUSIONS: biopsy and analysis of two blastomeres, where possible, reduced the risk of misdiagnosis in cases of balanced/aneuploid mosaics. The three live births achieved for the eight couples treated in this series, despite the poor history in almost all cases, is further proof that a policy of biopsying two cells from embryos consisting of six or more cells and a single cell from four- or five-cell embryos is compatible with a positive outcome.
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4/12. Successful pregnancy after preimplantation genetic diagnosis in a female with Robertsonian translocation.

    Preimplantation genetic diagnosis (PGD) is an alternative option for couples with chromosome abnormalities. A 34-year-old woman with balanced Robertsonian translocation [(45, XX, der(13; 14)(q10; q10)] requested PGD due to recurrent spontaneous abortion. Embryos of good quality were biopsied on day 3 post-oocyte retrieval. The aspirated blastomeres were fixed and analyzed using fluorescence in situ hybridization. In the first cycle, 2 unaffected embryos were transferred back without success. No unaffected embryo was available in the second cycle. On day 5 in the third cycle, 2 unaffected embryos were transferred resulting in a twin pregnancy. amniocentesis confirmed the diagnosis. At the gestational age of 35 weeks, 2 healthy girls were born via cesarean section. Postnatal physical examination found no evidence of major abnormalities.
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5/12. Evaluation and treatment of familial globozoospermia in five brothers.

    OBJECTIVE: To document the pathology of five siblings with complete globozoospermia and to report the effectiveness of repeated intracytoplasmic sperm injection (ICSI) treatment as therapy. DESIGN: Case report. SETTING: A tertiary center for assisted reproduction. patients(S): Five siblings with globozoospermia. INTERVENTION(S): Twenty cycles of repeated ICSI treatment. Detailed light and electron microscopy studies were performed on three of the globozoospermic brothers. MAIN OUTCOME MEASURE(S): Clinical pregnancy and live birth after ICSI treatment. RESULT(S): light and electron microscopy showed that all spermatozoa had round heads and no acrosome. Of 129 metaphase-II oocytes injected, 49 fertilized normally, giving an overall fertilization rate of 38% (range, 0-100%). No pregnancies resulted from 13 cycles in brothers 1-3. Brothers 4 and 5 had three pregnancies after seven ICSI cycles, with one live birth and two first-trimester losses. CONCLUSION(S): Despite variable fertilization rates, pregnancies and a live birth can be achieved after repeated ICSI treatment cycles in globozoospermic siblings. No apparent pattern was manifest that reflected the true pathology or determined the outcome of ICSI treatment.
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6/12. Women and reproductive-related trauma.

    Women are at higher risk for developing posttraumatic stress disorder (PTSD) than men, leading to significant psychosocial burden and healthcare-related costs. research has shown an association between the negative impact of traumatic experiences and the reproductive life cycle in women. pregnant women with a history of abuse/trauma frequently report intrusive reemergence of symptoms. Women who experience miscarriage may present with even higher prevalence rates of PTSD symptoms. Both psychologic and physiologic factors are believed to be relevant to the development of peripartum posttraumatic stress symptoms. Much less is known, however, about treatment. A case series of patients who presented with PTSD symptoms in the context of reproductive-related traumatic events (e.g., miscarriage, stillbirth) or who experienced reemergence of symptoms during pregnancy is presented, including treatment strategies.
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7/12. Effect of gonadotropin-releasing hormone agonist on a uterine arteriovenous malformation.

    BACKGROUND: The effect of gonadotropin-releasing hormone agonist (GnRHa) on uterine arteriovenous malformations (AVM) is not well known. CASE: A 37-year-old woman with a previous cesarean was diagnosed as having a uterine AVM after a spontaneous abortion with massive vaginal bleeding. The AVM decreased in size from 5.1 x 3.8 cm to 1.4 x 1.0 cm after 6 months of therapy with a GnRHa. uterine artery embolization conducted after the GnRH therapy resulted in complete disappearance of the AVM. The patient's menstrual cycles and ovulation resumed 3 months after uterine artery embolization. CONCLUSION: gonadotropin-releasing hormone agonist therapy reduced the size of the uterine AVM. Thus, GnRHa therapy may be useful for uterine AVM in situations where uterine artery embolization must be postponed.
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8/12. Complete abortion of early ectopic pregnancy.

    Abortion of an early ectopic pregnancy is a rarely diagnosed event. Coincidental serial hormonal studies performed on a patient suffering from idiopathic secondary infertility enabled the authors to record plasma estradiol, progesterone and beta-human chorionic gonadotropin concentrations, which, combined with the physical findings, ultrasonography and laparoscopy, led to the diagnosis of a complete abortion of an early ectopic pregnancy. Apart from slight vaginal bleeding on day 44 of a prolonged cycle, the patient was asymptomatic throughout and the importance of plasma beta-human chorionic gonadotropin determination in such a situation is discussed.
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9/12. Subclinical spontaneous abortion.

    blood samples were obtained from 5 women during the menstrual cycle in which they had conceived. Although neither the women nor their physicians were clinically aware that conception had occurred, one or more of the blood specimens from each woman contained human chorionic gonadotropin (hCG), as measured by a specific radioimmunoassay. Each patient underwent a spontaneous abortion with 4 of the 5 women describing a delayed, but otherwise normal, menses. The fifth noted an unusually abundant amount of vaginal bleeding. Immunologic urinary pregnancy slide tests were negative in the 4 women on whom the tests were performed. The levels of hCG in the serum of these women were abnormally low for the estimated length of gestation, suggesting that defective trophoblastic function may be important in the pathogenesis of this phenomenon. These examples illustrate that some women may conceive and abort so early that the pregnancy and the abortion may remain subclinical. Therefore, it is likely that the true incidence of spontaneous abortions during the first trimester is greater than the presently accepted incidence of 15%.
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10/12. Spontaneous resolution of ectopic pregnancy in a surrogate after oocyte donation and frozen embryo transfer.

    A case of tubal pregnancy in a young and healthy woman participating in a programme of in-vitro fertilization (IVF) gestational surrogacy is reported. The gestational surrogate was the 30 year old fertile sister of a 25 year old patient affected by stage 1 ovarian cancer. After mandatory oncological consultation, the donor was recommended to prospectively undergo controlled ovarian hyperstimulation cycles for embryo banking before being treated by total hysterectomy. Available embryos were cryopreserved and after adequate endometrial preparation using artificial cycles of hormone replacement therapy, three thawed frozen embryos were transferred to the surrogate. At 17 days following embryo transfer the surrogate was noted to have a negative beta-human chorionic gonadotrophin (HCG) serum concentration. All medication was suspended and a few days later normal menstrual bleeding occurred. After 2 weeks, the beta-HCG concentrations, performed as part of routine follow-up evaluation, were showing signs of trophoblast activity (236 mIU/ml). Taking into account the stable condition of the patient, a decision was made to undertake expectant management. At 43 days after embryo transfer, a complete tubal abortion was apparently seen in the posterior cul-de-sac by ultrasound associated with a subtle and short lasting pelvic pain. We stress that this ectopic gestation was able to maintain prolonged viability in conditions of absent corpus luteum and exogenous steroid supplementation.
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