1/18. Twin delivery after myomectomy, in vitro fertilization, and embryo reduction in an infertile woman.A 28-year-old patient had metroplasty performed because of necrosis of a uterine fibroid. During follow-up, the left adnexa were removed because of a recurrent left ovarian cyst. The triplet gestation achieved by in vitro fertilization was reduced to twins. The living premature newborns were delivered abdominally.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
2/18. Non-invasive exclusion of fetal aneuploidy in an at-risk couple with a balanced translocation.A pregnant woman who was a carrier for a balanced chromosome translocation [46,XX, t(1;6) (p31;q14)] and who had had six miscarriages, declined invasive testing but agreed to non-invasive prenatal diagnosis by analysis of fetal cells in maternal blood. Monoclonal antibody (Mab) against the zeta (z) and gamma (gamma) chains of embryonic and fetal haemoglobin were used to identify fetal nucleated erythrocytes (FNRBC). There were no FNRBC detected at 7 weeks, one anti-z-positive FNRBC was detected at 11 weeks, and 12 anti-gamma-positive FNRBC were detected at 20 weeks. Fluorescent in-situ hybridization was performed using probes for chromosomes X, Y, 1 and 6 to identify fetal gender and the presence of an unbalanced chromosomal translocation. A tentative prenatal diagnosis was made of a female fetus disomic for chromosomes 1 and 6. A female infant with a 46,XX karyotype was born at term. This is the first attempt of exclusion of a chromosome translocation using fetal cells isolated from maternal blood. There is an advantage of using fetal cells isolated from maternal blood for non-invasive prenatal diagnosis in couples who have a history of multiple miscarriages due to a parental translocation, and who decline invasive testing in a pregnancy that continues to the second trimester.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
3/18. Successful pregnancy after 24 consecutive fetal losses: lessons learned from surrogacy.OBJECTIVE: To offer surrogacy as a treatment option to patients in whom maternal rather than fetal factors are responsible for high-order unexplained habitual abortions. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 36-year-old woman with 24 consecutive abortions over 11 years. INTERVENTION(S): A regular IVF procedure in the aborting woman and transfer of two good-quality embryos to the surrogate mother, who had previously received hormones. MAIN OUTCOME MEASURE(S): Ovarian response, oocytes, fertilization, and embryo quality in the aborting patient. Endometrial thickness, implantation, pregnancy, and delivery in the surrogate mother. RESULT(S): Transfer of two embryos to the surrogate mother led to a clinical pregnancy, which was uneventful until term. cesarean section was performed for breech presentation, with delivery of a healthy male. CONCLUSION(S): Surrogacy can be offered as a treatment option to patients in whom maternal rather than fetal factors are responsible for high-order unexplained habitual abortions.- - - - - - - - - - ranking = 0.75keywords = embryo (Clic here for more details about this article) |
4/18. Recurrent triploidy of maternal origin.We report the occurrence of triploid preimplantation embryos following in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in a woman with two previously-identified triploid conceptuses which spontaneously underwent fetal demise at 10 and 23 weeks' gestation. An error in maternal meiosis II is proposed as the most likely cause.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
5/18. polycystic ovary syndrome, infertility, familial thrombophilia, familial hypofibrinolysis, recurrent loss of in vitro fertilized embryos, and miscarriage.OBJECTIVE: To study reversible determinants of infertility and recurrent loss of transferred embryos after failure of 7 of 10 embryo transfers, 1 live birth, and 2 miscarriages. DESIGN: Measures of thrombophilia, hypofibrinolysis, reproductive hormones, and androgenic steroids before and after metformin therapy. SETTING: Outpatient clinical research center. PATIENT(S): A 32-year-old amenorrheic, infertile woman with polycystic ovary syndrome (PCOS) who had 7 of 10 embryo transfers fail, 1 premature live birth, and 2 miscarriages at 8 and 17 weeks. INTERVENTION(S): metformin (2.55 g/d) was given to ameliorate the endocrinopathy of PCOS. MAIN OUTCOME MEASURE(S): Coagulation, insulin, reproductive hormones, and androgenic steroids. RESULT(S): The propositus had thrombophilia (familial protein s deficiency [free protein S 32%; normal >/=65%]). She also had familial hypofibrinolysis with 4G4G polymorphism of the plasminogen activator inhibitor (PAI-1) gene and high PAI-1 activity (PAI-Fx), 42.5 U/mL, normal <21.1. polycystic ovary syndrome was characterized by amenorrhea, polycystic ovaries, high fasting serum insulin (39 microU/mL, normal <20), androstenedione (763 ng/dL, normal <250), and testosterone (229 ng/dL, normal <83). After she received metformin for 4 months, PAI-Fx normalized (12.4 U/mL), as did insulin (12 microU/mL), androstenedione (185 ng/dL), and testosterone (39 ng/dL); weight fell from 109 to 91.3 kg (16%). CONCLUSION(S): metformin reversed the endocrinopathy of PCOS. Familial thrombophilia and hypofibrinolysis may lead to thrombosis-mediated uteroplacental vascular insufficiency, failure to achieve pregnancy after embryo transfer, and miscarriage.- - - - - - - - - - ranking = 2keywords = embryo (Clic here for more details about this article) |
6/18. Anti-PP1Pk (anti-Tja) and habitual abortion.blood group incompatibility as a cause of early or habitual abortion has been a matter of much debate. However, the abortion rate in such cases is much higher than that found in the general population. Two sisters having the rare genotype pp and anti-PP1Pk (anti-Tja) in their serum were reported as having habitual abortions; a third sister, with a normal P group, had a normal obstetric history. The relationship of anti-PP1Pk (anti-Tja) to the high rate of habitual abortion was discussed and added support was given to the existing evidence that certain maternal blood group antibodies can affect embryos early in uterine life.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
7/18. A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique,.A 22/22 Robertsonian translocation has been identified in a woman with recurrent abortions by a Giemsa banding technique. Cytogenetic studies of the embryonic tissue derived from one of her spontaneous abortions have demonstrated that the aborted fetus had a 46,XX,-22, t(22q22q) karyotype.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
8/18. A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis.In the present study, we present a novel reciprocal translocation t(2;20)(p24.1;q13.1) and its segregation in a three generation family. The rate of miscarriages (50%) in pregnancies from male translocation carriers could be explained by unbalanced translocation-bearing spermatozoa found with a frequency of approximately 55% in the entire sperm population of a t(2;20)(p24.1;q13.1) carrier. These imbalanced spermatozoa mainly present as 2, der(20) and der(2), 20 missegregated (approximately 46%) while adjacent 2 and 3:1 segregation patterns account for approximately 5% and 4% of imbalances, respectively. While the translocation is associated clearly with an increased risk of early abortions (7/12) in both male and female carriers, no malformed livebirths were observed. Our results suggest complete embryonic lethality of imbalanced offspring. With respect to a high rate of segregation to 2, der(20) and to der(2), 20 imbalanced spermatozoa in male translocation carriers and with respect to known cases of partial trisomy 2p and 20q we consider that their corresponding monosomies result in fetal loss. This is the first study reporting multiple abortions associated with partial monosomy 20q13.1-->qter and 2pter-->p24.1 and the first report on the frequency of chromosomal imbalances in gametes of a male t(2;20)(p24.1;q13.1) heterozygote.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
9/18. Preimplantation genetic diagnosis for a couple with recurrent pregnancy loss and triploidy.BACKGROUND: triploidy may arise from fertilization of a mature haploid egg by two haploid sperm or by failure of meiotic divisions yielding a diploid gamete. We encountered a couple with habitual abortion, in which the last two fetuses were documented as viable triploid. methods: To avoid dispermic penetration and development of abnormal preembryos, insemination was done by intracytoplasmic sperm injection (ICSI) followed by fluorescence in situ hybridization (FISH) of biopsied blastomeres. RESULTS: Tests of the husband's spermatozoa by FISH, revealed that only 2-3% of the sperm were disomic for chromosomes 16, 13, 21, X, and Y. No triple disomy was detected among chromosomes 16, 13 and 21, which makes it very unlikely that triploidy resulted from diploid spermatozoa. Following a controlled ovulation induction protocol, low quality oocytes with immature cumuli were revealed. After ICSI, five eggs became two pronuclei (2PN) zygotes and none of the other eggs developed a 3PN zygote. FISH was performed on chromosomes 16 and 21 in four preembryos developed to a 6-8 cell stage. aneuploidy or mosaicism for each of these chromosomes was detected in one preembryo and later in two disaggregated blastocysts. FISH failed in one preembryo that became atretic after biopsy. CONCLUSIONS: Although this case was unsuccessful in achieving embryo transfer and normal pregnancy, we detected many abnormal morphological features in the oocytes and chromosomal abnormalities in the cleaving preembryos. This protocol can be proposed to patients with recurrent pregnancy loss associated with chromosomal abnormalities in the fetus.- - - - - - - - - - ranking = 1.5keywords = embryo (Clic here for more details about this article) |
10/18. Late diagnosis of phenylketonuria in a Bedouin mother.We report on the first case of phenylketonuria in a Bedouin woman with 3 children having the phenylketonuria embryofetopathy. Herein, we discuss briefly hazards of late diagnosis of maternal phenylketonuria.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
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