21/31. Genetic analysis of repeated, biparental, diploid, hydatidiform moles.A woman presented with five consecutive pregnancies displaying molar morphology. In the fifth pregnancy, a non-malformed, liveborn infant was delivered. Genetic analyses (RFLP analysis, cytogenetics, flow cytometry) were performed in pregnancies II-V. It was demonstrated that these pregnancies originated in separate conceptions, all conceptuses were diploid, and all had maternally as well as paternally derived genetic markers. By cytogenetic analysis, aberrant heteromorphisms were noted; no other abnormalities were observed in chromosome structure or in dna sequence. Many different causes for the abnormal development can be envisaged, environmental as well as genetic. To conform to current ideas of molar pathogenesis, it is suggested that the present conceptuses might have arisen from imbalances in imprinted genomic regions. This could be a consequence of uniparental disomy in critical regions generated by somatic crossing over. Alternatively, it could be caused by a malfunction in the generation or maintenance of imprinting.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
22/31. Fluorescent in situ hybridization analysis of chromosomally normal gametes and abnormal arrested embryos.OBJECTIVE: The purpose of the present study was to investigate if the arrested embryos from a couple with several previously failed IVF treatments were chromosomally normal. Probes for chromosomes X, Y and 18 were used. RESULTS: A couple had undergone 7 in vitro fertilization treatments over a 2 1/2-year period without achieving a pregnancy. In each cycle, where fertilization was obtained, the development of the embryos was arrested. Fluorescent in situ hybridization probes for chromosomes X and Y (and 18) was carried out on gametes and on embryos in 2 separate cycles. Sperm and oocytes were normally haploid X0 or Y0. The nuclei of the blastomeres were fragmented and mosaic for X or Y, or monosomic X0, despite the fact that 2 pronuclei had been assessed on day 1 following intracytoplasmic sperm injection. CONCLUSION: Chromosomally normal gametes can result in abnormal embryos manifested by arrested development and unexplained infertility.- - - - - - - - - - ranking = 38.063346685548keywords = fertilization (Clic here for more details about this article) |
23/31. The use of fluorescent in-situ hybridization (FISH) for the analysis of in-vitro fertilization embryos: a diagnostic tool for the infertile couple.We use triple colour fluorescent in-situ hybridization (FISH) to sex human embryos for preimplantation diagnosis of X-linked disease, to analyse chromosome numbers in embryos donated for research purposes and as a diagnostic tool for patients undergoing infertility treatment, especially in cases where abnormal embryo development occurs. We have reported on the use of FISH in a case where all embryos showed accelerated cleavage. Here we report on the use of triple colour FISH in a case where five out of seven oocytes were multi-nucleated when examined for pronuclei. The embryos were spread whole using HCl/Tween 20 and triple colour FISH performed with probes for chromosomes X, Y and 1 in a 2 h procedure. Two embryos were normal for the probes used, and three showed abnormalities, including one 4-cell embryo where all nuclei were X,X,X,Y,1,1,1,1. FISH indicated that fertilization had occurred, but that the majority of embryos were abnormal confirming that such embryos should not be considered for transfer. In these cases, or where there is recurrent in-vitro fertilization failure or spontaneous abortions, embryos in future cycles can be examined using FISH to ascertain the level of chromosome abnormality which may aid future infertility treatment.- - - - - - - - - - ranking = 114.19004005664keywords = fertilization (Clic here for more details about this article) |
24/31. trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review.We report on a fetus with 47,XX, 15 chromosome abnormality detected on chorionic villus sampling (CVS). The pregnancy was terminated at 15.5 weeks of gestation and chromosome analysis done on amniocytes and fetal tissues showed a karyotype 46,XX/47,XX, 15. autopsy showed multiple abnormalities. Short-arm polymorphisms of the three number 15 chromosomes were highly informative in the delineation of parental origin and the stage of meiotic error. Using fluorescent in situ hybridization (FISH) with D15Z1 and a chromosome 15 painting probe, in addition to DA/DAPI and G-banding, we were able to show that the trisomic conceptus was derived through maternal meiosis I error. The trisomic state was then partially corrected by the loss of one of the two maternal 15s resulting in mosaicism without uniparental disomy (UPD). Striking differences in the proportion of trisomic cells in kidneys, blood, intestine, and skin, and lower proportions of trisomic cells in transformed and frozen than in fresh tissues, illustrate the continuing cell selection in this fetus in favour of the normal cell line. trisomy 15 conceptions are usually aborted spontaneously in the first trimester of pregnancy. The longer survival of this fetus is most probably the result of a chromosome 15 loss from the trisomic zygote. To the best of our knowledge, the presence of this lethal trisomy has been reported in only five live-born infants, and in five fetuses including the present case, it was detected prenatally and the pregnancies were terminated.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
25/31. Embryo selection by IVF, co-culture and transfer at the blastocyst stage in case of translocation.The case report illustrates the successful association of in-vitro fertilization (IVF) and co-culture for the selection of the viable embryos in a female patient carrying a reciprocal balanced translocation.- - - - - - - - - - ranking = 19.031673342774keywords = fertilization (Clic here for more details about this article) |
26/31. tetraploidy and partial endoreduplication in a tripronuclear zygote obtained after intracytoplasmic sperm injection.OBJECTIVE: To describe a peculiar combination of cytogenetic abnormalities in a tripronuclear zygote obtained after intracytoplasmic sperm injection (ICSI). DESIGN: Case report. SETTING: A university hospital. PATIENT(S): A couple with a 4-year history of primary infertility. Intracytoplasmic sperm injection was performed because of male factor infertility (oligoteratozoospermia). INTERVENTION(S): Ultrasound-guided transvaginal follicular aspiration. MAIN OUTCOME MEASURE(S): Chromosomal karyotype of a tripronuclear one-cell zygote. RESULT(S): Unexpectedly, a tetraploid [92,XXYY, end3, -18, end18] chromosome complement was found, indicating injection of a diploid spermatozoon carrying two Y chromosomes. The parental origin of the other abnormalities could not be determined. The missing chromosomes may be attributed either to a hypodiploid [44,YY,-18,-18] sperm cell or to a hypohaploid [22,X,-18] oocyte. The exact tetraploid count was restored by endoreduplication of two chromosomes. This event could have occurred in one and the same or in two different pronuclei. CONCLUSION(S): cytogenetic analysis of multipronuclear zygotes appears useful for assessing the incidence of chromosomal abnormalities at the earliest stage of conception. In addition to other methods, it also may contribute to evaluation of the transmission of aberrations by spermatozoa from infertile men.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
27/31. Recurrent in vitro fertilization failure evaluated by fluorescence in situ hybridization: a case report.OBJECTIVE: To present a case of IVF failure evaluated by fluorescence in situ hybridization (FISH). DESIGN: Case report. SETTING: research university laboratory and clinical IVF laboratory. PATIENT(S): An infertile couple with recurrent IVF failure. INTERVENTION(S): fluorescence in situ hybridization study of the complete cohort of "zygotes" obtained at the third IVF attempt. MAIN OUTCOME MEASURE(S): fluorescence in situ hybridization studies of chromosomes X, Y, 13, 18, and 21. RESULT(S): All the recovered putative zygotes were abnormal for the expected ploidy, presumably as a result of abnormal oocytes. CONCLUSION(S): fluorescence in situ hybridization techniques represent a promising approach to analyze zygotes that fail to divide normally in vitro and eggs that fail to become fertilized. In cases of recurrent IVF failure, the results of FISH could be used to counsel couples and thus to help them choose among methods other than IVF for assisted reproduction.- - - - - - - - - - ranking = 76.126693371095keywords = fertilization (Clic here for more details about this article) |
28/31. eclampsia complicating hydatidiform molar pregnancy with a coexisting, viable fetus. A case report.BACKGROUND: eclampsia is a rare and serious complication of pregnancy. The occurrence of preeclampsia prior to the 20th week of gestation has been associated with concurrent hydatidiform molar pregnancy. We present a case of eclampsia complicating a partial molar pregnancy associated with a viable fetus. CASE: A 22-year-old white woman, gravida 1, para 0, at 14 weeks' gestation, presented with an excruciating headache associated with hypertension, proteinuria and a viable intrauterine fetus with gastroschisis. Subsequently the patient had a generalized tonic-clonic seizure which resolved with magnesium sulfate therapy. Markedly elevated quantitative human chorionic gonadotropin and a moderately thickened placenta were the sole clinical features suggestive of a molar gestation. Dilation and evacuation was performed revealing unremarkable products of conception. Pathologic and cytogenetic analyses revealed a triploid fetus (69,XXX) consistent with partial molar pregnancy. CONCLUSION: Development of preeclampsia/eclampsia prior to 20 weeks of gestation should prompt a clinical evaluation to exclude the possibility of an underlying hydatidiform molar pregnancy.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
29/31. Maturation of a binuclear oocyte from the germinal vesicle stage to metaphase II: formation of two polar bodies and two haploid chromosome sets.We report on a binuclear human oocyte that underwent maturation in vitro from germinal vesicle stage to metaphase II. Following extrusion of two polar bodies, the oocyte was processed for cytogenetic analysis which revealed two separate haploid chromosome sets accompanied by the corresponding polar body chromatin. Tentatively established karyotypes were 23,X and 23,X,ace, respectively. This condition could have resulted in a tripronuclear digynic zygote after monospermic fertilization.- - - - - - - - - - ranking = 19.031673342774keywords = fertilization (Clic here for more details about this article) |
30/31. A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis.Non-mosaic Klinefelter patients are generally azoospermic due to primary testicular failure. Nevertheless, in some cases, testicular spermatozoa may be recovered and utilized to fertilize oocytes via intracytoplasmic sperm injection (ICSI). As the risk for an increased number of gonosomes in these spermatozoa is unclear, preimplantation genetic diagnosis (PGD) may be attempted in the resulting embryos. In the present study, we report our experience with the combined approach of sperm retrieval by testicular fine needle aspiration (FNA), ICSI and PGD in seven consecutive non-mosaic Klinefelter individuals. In four patients, between one and five spermatozoa were retrieved in five out of nine consecutive attempts. In a fifth patient, only 10 round spermatids could be isolated. Mature spermatozoa were injected into a total of 16 metaphase-II oocytes, of which 11 (69%) remained intact. Two distinct pronuclei (2PN) were observed in four oocytes (36%) while a single pronucleus (1PN) was documented in two oocytes. Five cleavage stage embryos developed from the oocytes of two couples. Upon the request of one couple, their three embryos (two derived from 1PN oocytes) were transferred without PGD but pregnancy was not achieved. PGD by fluorescence in-situ hybridization (FISH) was performed in the two embryos of the other couple which were derived from normal fertilization. PGD results of one embryo were 18,18,X,X,Y, the embryo was not transferred and FISH analysis of the remaining blastomeres identified variable chromosome numbers in the nuclei. The second embryo was diagnosed as normal and was transferred, resulting in a successful pregnancy and birth. In conclusion, the results of this report indicate that a pregnancy and birth may be attained in azoospermic non-mosaic Klinefelter individuals by testicular FNA combined with ICSI. Due to the unknown risk of gonosomes aneuploidy in embryos from Klinefelter patients, PGD or prenatal diagnosis should be recommended.- - - - - - - - - - ranking = 19.031673342774keywords = fertilization (Clic here for more details about this article) |
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