11/51. Sperm chromosomal abnormalities are linked to sperm morphologic deformities.OBJECTIVE: To describe the association between specific sperm morphologic abnormalities and sperm chromosomal abnormalities on multicolor interphase fluorescence in situ hybridization (FISH). DESIGN: Case report.reproductive medicine unit in a tertiary referral center. PATIENT(S): Three infertile men with severe oligoasthenospermia and total teratozoospermia who were referred for IVF treatment. MAIN OUTCOME MEASURE(S): incidence of spermatozoal chromosomal aneuploidy for chromosome 18 and the sex chromosomes by using FISH. RESULT(S): Morphologic assessment of sperm revealed a high incidence of double heads, multinucleated sperm heads, and multiple tails. Hormone profiles and karyotyping of peripheral lymphocytes were normal in the three men. The proportion of sperm with disomy, trisomy and tetrasomy for chromosome 18, and the sex chromosomes in each patient was 100%, 76%, and 82.5%, respectively. CONCLUSION(S): Specific morphologic abnormalities of sperm may be associated with higher incidence of chromosomal abnormalities. Resolving infertility by offering patients in vitro fertilization/intracytoplasmic sperm injection must be approached with caution because of the significant risk for embryonic aneuploidy and chromosomal abnormalities in any subsequent offspring.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
12/51. X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case.Non-random X-chromosome inactivation (XCI) is often seen in female carriers of balanced X-autosome translocations and is generally attributed to a selective growth of cells that inactivate the normal X chromosome. However, little is known concerning when in development the selection acts, and thus whether skewed XCI would also be seen in placental tissues. Furthermore, as males with X-autosome translocations are normally infertile, all translocations studied to date for XCI-skewing have been either maternal or de novo in origin. We now present an analysis of XCI status in cord blood, umbilical cord and four different extraembryonic tissues from a female carrier of a paternally derived balanced (X;20) translocation. Using methylation based assays to determine XCI status, we found preferential inactivation of the non-translocated X in cord blood, umbilical cord and amnion samples of the propositus. Remarkably, random XCI was evident in several placental tissues analyzed (chorion, and chorionic villi trophoblast and mesenchyme). While these findings support the hypothesis of strong selection against cells with an inactive translocated X-chromosome in most embryonic/fetal tissues, they also suggest weaker selective forces taking place during placental development. Additionally, the finding of normal placental development in the present case, rules out the possibility of a parental bias to XCI in human extraembryonic tissues as a requisite for normal development. The finding of hypomethylation in extraembryonic tissues for two out of three markers used in the study is consistent with previous findings demonstrating low levels of methylation in these tissues.- - - - - - - - - - ranking = 4keywords = embryo (Clic here for more details about this article) |
13/51. Pregnancies after ICSI using sperm with abnormal head-tail junction from two brothers: case report.We report ICSI pregnancies in two couples with a history of long standing primary infertility in which the sperm of the male partner were either acephalic or had abnormal head-midpiece attachments. The two couples, in which the men are brothers, underwent ICSI. Sperm were analysed by transmission electron microscopy and immunocytochemistry with an anti-MPM2 monoclonal antibody. The first couple underwent two ICSI cycles, each consisting of the injection of two mature oocytes and the transfer of two embryos. A successful pregnancy occurred after the second transfer and led to the birth to a healthy girl. The second couple underwent three ICSI cycles, each consisting of the injection of 18 oocytes and the transfer of two embryos; the last of these led to a triple ongoing pregnancy which included two identical twins. Caesarean section led to the birth of three fetal-growth restricted children. This case report demonstrates that ongoing pregnancies can be achieved in cases of abnormal development of the head-neck attachment. The genetic origin of this syndrome is generally accepted, but the phenotypic heterogeneity observed by light and electron microscopy among published cases suggests that there are a variety of genetic causes of this syndrome.- - - - - - - - - - ranking = 2keywords = embryo (Clic here for more details about this article) |
14/51. Different fertilization rates between immotile testicular spermatozoa and immotile ejaculated spermatozoa for ICSI in men with Kartagener's syndrome: case reports.We report two cases of infertility treatment in couples where males suffered from Kartagener's syndrome (KS) and a total absence of motile sperm in the ejaculate. A total of three ICSI cycles was carried out. In all cycles, viable ejaculated or testicular spermatozoa were selected using the hypo-osmotic swelling (HOS) test. Case 1: In the first ICSI cycle total fertilization failure occurred after using ejaculated spermatozoa. In the following cycle testicular spermatozoa were used for ICSI, resulting in 75% fertilized oocytes and a pregnancy. Case 2: In the same ICSI cycle 50% of the oocytes were injected with ejaculated and 50% with testicular spermatozoa. The fertilization rates were 44 and 56% respectively and high quality embryos were achieved in both groups. One single embryo derived from testicular sperm was transferred with a resulting singleton pregnancy. In conclusion, testicular sperm for ICSI seem to have reliable fertilization capacity in men with KS, while ejaculated sperm, even if tested viable, seem more unpredictable. HOS test for selection of viable sperm for ICSI is recommended when ejaculated as well as testicular sperm are used for ICSI.- - - - - - - - - - ranking = 2keywords = embryo (Clic here for more details about this article) |
15/51. Preliminary evidence on the safety of ICSI with testicular spermatozoa in HCV-infected male: a case report.An infertile couple with a hepatitis c (HCV) rna-positive male came to our attention. We were not able to perform an assisted reproduction technology (art) procedure with ejaculated spermatozoa free of HCV rna using gradient centrifugation and swim up, due to retrograde ejaculation and severe male factor. ICSI with testicular spermatozoa was the most rational therapeutic approach. The couple was informed about the lack of adequate data on the safety of this therapeutic approach. The risks of this procedure were accepted by the couple. Testicular sperm aspiration combined with ICSI (TESA-ICSI) was performed. After a negative result for an HCV rna PCR on the embryos' culture medium, four embryos were transferred to the uterine cavity on the third day. The procedure resulted in an ongoing clinical pregnancy, and HCV antibody determinations performed in the mother at the 12th and 24th week of pregnancy were negative. The pregnancy ended at the 39th week due to endo-uterine death. No malformation or hepatic pathologies were found in the conceptus. A second TESA-ICSI cycle is ongoing. This preliminary evidence suggests that, in HCV sero-positive males, ICSI with testicular spermatozoa may be a safe procedure. However, we need more observations to clarify if art is really able to reduce horizontal and vertical transmission of HCV in sero-discordant couples (only the male infected) in comparison with natural conception.- - - - - - - - - - ranking = 2keywords = embryo (Clic here for more details about this article) |
16/51. Partial hydatidiform mole following the transfer of single frozen-thawed embryo subsequent to ICSI.Hydatiform mole is a gestational trophoblastic disease characterized by the dominance of dispermic fertilization. micromanipulation techniques in assisted reproduction technologies have enabled direct evaluation of the zygotes and the formation of pronuclei in the zygote. Intracytoplasmic sperm injection (ICSI) of oocytes ensures that only a single spermatozoon enters the ooplasma. This study reports a case of partial hydatiform mole following the transfer of day 3 frozen-thawed embryo. ICSI was used as the assisted fertilization method because there was male factor infertility due to severe oligoasthenoteratozoospermia. Possible predisposing factors for partial hydatidiform mole after ICSI are also discussed.- - - - - - - - - - ranking = 5keywords = embryo (Clic here for more details about this article) |
17/51. Polycystic kidney disease and infertility: case report and literature review.adult polycystic kidney disease (APKD) is a frequent disease (1/1000) responsible for about 10% of chronic renal failure. It is an autosomic dominant disease due to mutation of one out of three genes: PKD1 (on the 16th chromosome), PKD2 (on the 4th chromosome) and PKD3 (still unmapped). In the past APKD diagnosis was normally done in fourteen-fifteen years old subjects who have completed their reproductive program. However frequently today, after renal ultrasound introduction, the APKD diagnosis is made during reproductive life. There are several reports of APKD-related infertility in male subjects. The frequency of this association appeared significantly higher than expected by chance alone in a recent observation. So a possible causal relation between APKD and male infertility may exists. Several pathogenetic mechanisms may be responsible of such an association. We recently observed an infertile couple with long standing infertility due to criptozoospermia (<1 x 10(6) spermatozoa/ml) and necrospermia (100% of died spermatozoa at eosin test) in an APKD affected patient. Endocrine tests showed normal testosterone and FSH levels. A TESA-ICSI was done with two embryos development after fertilization of two oocytes (fertilization rate: 25%). At the 14th day after pick up beta-HCG determination showed 72 mUI/ml. A male baby was born at 40th week of pregnancy. Prenatal morphological ultrasound excluded polycystic kidney.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
18/51. Higher aneuploidy rates of chromosomes 13, 16, and 21 in a patient with globozoospermia.OBJECTIVE: To analyze rates of chromosomal anomalies in a patient with globozoospermia. DESIGN: Case report. SETTING: Tertiary-care infertility clinic. PATIENT(S): A 44-year-old man with 100% globozoospermia. INTERVENTION(S): Fixation of sperms and analysis of aneuploidies and diploidies by fluorescence in situ hybridization. MAIN OUTCOME MEASURE(S): aneuploidy rates of chromosomes 13, 16, and 21 and diploidy rate in a patient with 100% globozoospermia. RESULT(S): The aneuploidy rates in spermatozoa from a patient with globozoospermia were significantly higher than in a normospermic man. The incidence of a disomy of the chromosomes 13, 16, and 21 was 4%, 5%, and 1%, respectively, and the nullisomy rates were 2%, 2%, and 3%, respectively. CONCLUSION(S): This study demonstrates a positive correlation between globozoospermia and higher chromosomal aneuploidies of the chromosomes 13, 16, and 21, suggesting a higher risk of creating aneuploid embryos after intracytoplasmic sperm injection treatment for globozoospermia patients.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
19/51. Male infertility after renal transplantation: achievement of pregnancy after intracytoplasmic sperm injection.Chronic renal failure, dialysis, and immunosuppression after transplantation may cause reproductive failure. Although transplantation may reverse most sperm functions in the male, there is sufficient evidence in the literature that sperm motility may not be restored. Herein we present three cases with male factor infertility who underwent intracytoplasmic sperm injection (ICSI). There is a lack of evidence for use of ICSI for couples in whom the infertile husband had undergone renal transplantation. Case 1, a 25-year-old woman with a 7-year history of infertility had a 33-year-old husband, with asthenoteratospermia status-post renal transplantation 1 year prior. The wife delivered healthy twins at 36 weeks of gestation after three embryos were transferred. Case 2, a 34-year-old woman with infertility of 6 years, had a 34-year-old husband transplanted 2 years prior and hospitalized for chronic rejection during ICSI treatment. He had severe oligoasthenoteratozoospermia. She is currently 20 weeks pregnant with a singleton after transfer of two embryos. Case 3, a 31-year-old woman with a previous spontaneous abortion and 3 years of failure to conceive, had a 41-year-old husband status-post renal transplantation 16 years ago, currently in chronic renal failure treated with continuous ambulatory peritoneal dialysis. His sperm analysis showed oligoasthenoteratozoospermia. However, pregnancy did not occur after transfer of two embryos. health status after renal transplantation influences sperm function. Because healthy sperm is required for fertilization and embryonic development, ICSI candidates after renal transplantation must be in optimum health.- - - - - - - - - - ranking = 4keywords = embryo (Clic here for more details about this article) |
20/51. Chromosomal analysis of spermatozoa with normal-sized heads in two infertile patients with macrocephalic sperm head syndrome.OBJECTIVE: To study the chromosomal content of spermatozoa that could be selected for intracytoplasmic sperm injection (ICSI) in cases of macrocephalic sperm head syndrome. DESIGN: Case report. SETTING: obstetrics, gynecology, urology, and reproductive biology departments. PATIENT(S): Two infertile patient candidates for ICSI presenting with total teratozoospermia (100%) with mainly large-headed spermatozoa (91% and 82%, respectively). INTERVENTION(S): fluorescence in situ hybridization with X, Y, 18 centromeric probes on unselected spermatozoa (all migrated spermatozoa) and specifically on selected spermatozoa with normal-sized heads. MAIN OUTCOME MEASURE(S): Percentage of polyploid, diploid, aneuploid, and normal haploid spermatozoa, according to X, Y, 18 chromosome centromeric probes on selected spermatozoa (head size compatible with ICSI). RESULT(S): All the nonselected spermatozoa were abnormal, diploid, or polyploid. The rate of normal ploidy (haploid cells) among the selected sperm population was 1 per 28 for patient 1 and 5 per 51 for patient 2. CONCLUSION(S): This very low proportion of normal haploid spermatozoa among selected spermatozoa contraindicated ICSI for the two patients. We suggest performance of this selection and analysis before including (or not), in an ICSI program, patients with macrocephalic sperm head syndrome, associated or not with preimplantation genetic diagnosis.- - - - - - - - - - ranking = 4.5500748898172keywords = preimplantation (Clic here for more details about this article) |
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