11/19. preimplantation diagnosis in switzerland--birth of a healthy child after polar body biopsy.In switzerland preimplantation genetic diagnosis is limited by law to polar body biopsy (PBB). The indications for PBB include unexplained recurrent miscarriage and improvement of the outcome of in vitro fertilisation (IVF) cycles in women at an advanced reproductive age. In this article we report the first birth of a healthy child after polar body biopsy in switzerland in a case of unexplained miscarriage after IVF.- - - - - - - - - - ranking = 1keywords = preimplantation (Clic here for more details about this article) |
12/19. Medical and psychological management of recurrent abortion, history of postneonatal death, ectopic pregnancy and infertility: successful implementation of IVF for multifactorial reproductive dysfunction. A case report.The medical and psychological treatment for a 37-year-old Caucasian G6 P1051 woman who presented for evaluation of secondary infertility and recurrent pregnancy loss is described. Although one living child had been conceived without medical assistance, that delivery preceded the present evaluation by ten years and involved a different partner. With the current husband, the patient had two miscarriages and a left ectopic pregnancy. The couple had attempted controlled ovarian hyperstimulation and in vitro fertilization (IVF) elsewhere, but the cycle was cancelled due to poor follicular response. About one year before consultation at our institution, the couple established a pregnancy although the infant was born at 24 weeks with a cardiac anomaly, living only 40 days. Additionally, a persistent cervical lesion required cone biopsy before any fertility treatment could resume. andrology evaluation found the husband's sperm dna fragmentation index to be 48.6%. This constellation of stressors represented substantial emotional issues and psychological therapy/counseling was recommended. After obtaining psychological clearance, the couple underwent IVF and 16 oocytes were retrieved. Four embryos were transferred, and a healthy male infant was delivered at term. Although multifactorial infertility can be associated with very poor reproductive outcomes, the advanced reproductive technologies merit consideration during management of complex clinical challenges. Standard IVF strategies can be optimized by inclusion of thorough psychological assessment and counseling.- - - - - - - - - - ranking = 0.047774047926904keywords = embryo (Clic here for more details about this article) |
13/19. 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.- - - - - - - - - - ranking = 4.1433221437807keywords = preimplantation, embryo (Clic here for more details about this article) |
14/19. aneuploidy 12 in a Robertsonian (13;14) carrier: Case report.In translocation carriers, the presence of aneuploidy for the chromosomes unrelated to the rearrangement may lead to an additional risk of abnormal pregnancy or implantation failure. Consequently, it may be important to analyse not only the chromosomes involved in the rearrangement but also the rest of chromosomes. We combined spectral karyotyping (SKY) and comparative genomic hybridization (CGH) to karyotype one unfertilized oocyte and its first polar body (1PB) from a Robertsonian translocation carrier t(13;14) aged 29 years who was undergoing IVF and preimplantation genetic diagnosis (PGD) for translocations and aneuploidy screening. Two out of four embryos were aneuploid, as a result of an adjacent segregation. The unfertilized oocyte had a normal/ balanced constitution of the chromosomes involved in the reorganization. However, this 1PB-metaphase II doublet was aneuploid for chromosome 12, the oocyte being hyperhaploid (24, X, 12) and its 1PB hypohaploid (22, X, -12). The application of CGH for the study of Robertsonian translocations of maternal origin will be useful to study imbalances of the chromosomes involved in the rearrangement, as well as alterations in the copy number of any other chromosome. The combination of PGD for translocations with aneuploidy screening could help to reduce the replacement of chromosomally abnormal embryos.- - - - - - - - - - ranking = 1.0955480958538keywords = preimplantation, embryo (Clic here for more details about this article) |
15/19. A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.OBJECTIVE: To report the first tertiary monosomy in a pregnancy loss to a female t(11;22) carrier. methods: The patient was a 34-year-old G10P1 female known to have a balanced translocation t(11;22)(q23;q11.2). She had one female livebirth (a translocation carrier) and eight miscarriages. Five female relatives known to be translocation carriers had a history of breast cancer, three of them premenopausally. The patient herself had a malignant melanoma. RESULTS: During the 10th pregnancy, ultrasound showed a viable embryo at 6 weeks of gestation, but loss of embryonic heartbeat by 7.5 weeks. culture of the products of conception at 8 weeks of gestation showed the karyotype: 46,XY, 2,der(11)t(11;22)(q23;q11.2)mat,-22[4]/45,XY,der(11)t(11;22)(q23;q11.2)mat ,-22[4], resulting from fertilization of the maternal 3:1 segregation product containing only the der(11) by a normal gamete. Subsequently, she became pregnant with a normal 46,XX fetus. FISH analysis indicated that the breakpoints on 11q and 22q in the patient were in the previously described region common to typical recurrent t(11;22). In addition, a nested-PCR-based approach showed that they were located within the same palindromic AT-rich sequence previously described. CONCLUSION: This case demonstrates that the tertiary monosomy resulting from the 3:1 segregation is compatible with embryonic survival into the first trimester. It is also another example of apparent association of the constitutional translocation t(11;22) and breast cancer.- - - - - - - - - - ranking = 0.14332214378071keywords = embryo (Clic here for more details about this article) |
16/19. Use of a gestational carrier for a patient with recurrent adverse pregnancy outcomes from early onset severe pre-eclampsia.OBJECTIVE: To describe the first reported case of gestational carrier treatment to prevent severe early onset pre-eclampsia. DESIGN: Case report. SETTING: A university-based reproductive endocrinology and infertility clinic and a tertiary care hospital. PATIENT(S): A 29-year-old woman and her husband with three consecutive pregnancies complicated by early onset severe pre-eclampsia causing fetal demises at 22 and 24 weeks gestation; a neonatal death at 25 weeks gestation; and life-threatening maternal hemolysis, elevated liver enzymes, and low platelets. INTERVENTION(S): An IVF procedure in the patient using her husband's sperm with the transfer of two embryos to a friend who offered to be a gestational carrier. MAIN OUTCOME MEASURE(S): Successful IVF cycle in the patient and uncomplicated pregnancy and delivery in the gestational carrier. RESULT(S): The gestational carrier achieved a pregnancy and progressed without complications to delivery of a healthy, 3.2-kg infant at 39 weeks gestation. CONCLUSION(S): The use of a gestational carrier deserves consideration as a treatment option in patients with poor reproductive histories because of early onset severe pre-eclampsia and hemolysis, elevated liver enzymes, and low platelets syndrome. This experience also suggests that development of pre-eclampsia may be in large part maternally rather than embryologically or paternally driven.- - - - - - - - - - ranking = 0.095548095853807keywords = embryo (Clic here for more details about this article) |
17/19. High resolution banding of an unusual reciprocal translocation in recurrent abortions.Reciprocal translocations involving two chromosomes frequently cause abortion of unbalanced offspring. In many cases, however, meiosis leads to a cytogenetically normal or balanced gamete with normal embryonal development. In a couple investigated because of recurrent reproductive loss, the husband had a reciprocal exchange of parts of the long arms of chromosomes 9 and 10 in the form of inverted insertions. Due to difficulties in obtaining regular homologous pairing during zygotene, this anomaly might not be compatible with cytogenetically normal or balanced offspring. The diagnosis of this translocation was possible using a previously published alkaline Giemsa G-banding technique.- - - - - - - - - - ranking = 0.047774047926904keywords = embryo (Clic here for more details about this article) |
18/19. embryonic development in consecutive specimens from recurrent spontaneous abortions.Although habitual abortion occurs in a relatively small number of patients, its successful management is often difficult. Etiologic factors may be either maternal or embryonic or both; there is much information available on maternal factors but little is known of factors related to the embryo. Information obtained from examining and karyotyping the aborted embryo or fetus may be of considerable importance in determining the possible cause of the abortion and subsequent investigation and counseling of the patient. At least two specimens from over 50 women who have had two or more consecutive spontaneous abortions have been examined and the results show that: (1) patients aborted conceptuses of the same developmental stage, i.e., embryo or fetus, in consecutive pregnancies. This suggests that investigation should be directed to factors which may be important in the stage of pregnancy indicated. (2) Late abortions were associated with normal fetal development and factors related to the uterine environment. (3) The conceptus in an early abortion was significantly more likely to have a cytogenetic abnormality, suggesting a problem at, or prior to, conception/fertilization. A case study is also included.- - - - - - - - - - ranking = 0.19109619170761keywords = embryo (Clic here for more details about this article) |
19/19. Hypothesis: antiphospholipid antibodies associated with congenital anomalies?Antiphospholipid antibodies have been associated with pregnancy loss. We now present a possible association between antiphospholipid antibodies, recurrent spontaneous abortion and congenital anomalies. L.M. is a 32-year-old woman, gravida 6, para 2023, whose obstetric history includes three spontaneous abortions and two infants with congenital anomalies including kidney atresia and oromandibular hypogenesis. The only normal offspring are twins born after receiving treatment of aspirin 80 mg daily during the pregnancy. Laboratory evaluation revealed the presence of circulating antiphospholipid antibodies. Antiphospholipid antibodies cause endothelial cell activation which has been proposed as a cause of congenital malformations. This case suggests the risk of not only recurrent spontaneous abortion but also congenital anomalies in the offspring of a women with antiphospholipid antibodies. The congenital anomalies are 'regional' and could result from embryonic vascular accidents as a result of antiphospholipid antibody interaction with endothelial cells. The only 'successful' pregnancy was with treatment with aspirin. If the associations illustrated in this obstetric history can be substantiated by population-based studies, it may be concluded that antiphospholipid antibodies are a risk factor for embryo teratogenicity as well as mortality.- - - - - - - - - - ranking = 0.095548095853807keywords = embryo (Clic here for more details about this article) |
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