1/19. Triploid pregnancy after ICSI of frozen testicular spermatozoa into cryopreserved human oocytes: case report.Although freezing oocytes is ethically more acceptable than cryopreservation of embryos, variable oocyte survival, fertilization rate and possible risk of increased ploidy after cryopreservation have precluded the widespread clinical application of oocyte cryopreservation in assisted reproduction techniques. We report a triploid pregnancy from intracytoplasmic sperm injection of recombinant FSH-stimulated frozen/thawed testicular spermatozoa into cryopreserved oocytes in a hormone replacement cycle. To our knowledge, this is the first report of a pregnancy where both gametes have been frozen. It illustrates the need for further research when applying new techniques in assisted reproduction.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
2/19. 47,XX mar karyotype containing genes from the azoospermia factor region. A case report.BACKGROUND: Abnormal embryo development is the major cause of implantation failure and accounts for the low rate of human fertility in vitro and in vivo. Chromosome abnormalities are widely involved in this process through meiotic nondisjunction, fertilization abnormalities and mitotic nondisjunction. CASE: In our assisted reproductive technology program a couple underwent cytogenetic analysis. The woman had a 47,XX mar karyotype. We investigated this patient by chromosome analysis, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) dna analysis. The marker chromosome was found to be very similar to a y chromosome in size and QFQ staining pattern. Therefore, it was tested by FISH using alpha- and beta-satellite dna specific for the y chromosome, some YACs specific for the long arm of the y chromosome and alpha-satellite dna specific for 15 chromosomes as probes. In order to define this marker, the next step was PCR amplification of the whole genomic dna using specific landmarks (sequence-tagged sites) to encompass the azoospermia factor (AZF) region on the long arm of the y chromosome. CONCLUSION: A woman had an extra chromosome containing centromeric dna derived from the Y and 15 other chromosomes, heterochromatic regions derived from 15 chromosomes and a large heterochromatic block at the end of the long arm that definitely was not y chromosome heterochromatin (beta-satellite). PCR showed several genes of the y chromosome long arm that are assumed to be involved in male gametogenesis. Phenotypic effects could not be excluded because of the presence of AZF genes. Oocyte karyotyping might better explain the role of the genetic problem on female infertility.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
3/19. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy.OBJECTIVE: To develop a preimplantation genetic diagnosis (PGD) protocol that allows any form of chromosome imbalance to be detected.DESIGN: Case report employing a method based on whole-genome amplification and comparative genomic hybridization (CGH).SETTING: Clinical IVF laboratory.PATIENT(S): A 40-year-old IVF patient.INTERVENTION(S): Polar body and blastomere biopsy.MAIN OUTCOME MEASURE(S): Detection of aneuploidy.RESULT(S): Chromosome imbalance was detected in 9 of 10 polar bodies. A variety of chromosomes were aneuploid, but chromosomal size was found to be an important predisposing factor. In three cases, the resulting embryos could be tested using fluorescence in situ hybridization, and in each case the CGH diagnosis was confirmed. A single embryo could be recommended for transfer on the basis of the CGH data, but no pregnancy ensued.CONCLUSION(S): Evidence suggests that preferential transfer of chromosomally normal embryos can improve IVF outcomes. However, current PGD protocols do not allow analysis of every chromosome, and therefore a proportion of abnormal embryos remains undetected. We describe a method that allows every chromosome to be assessed in polar bodies and oocytes. The technique was accurate and allowed identification of aneuploid embryos that would have been diagnosed as normal by standard PGD techniques. As well as comprehensive cytogenetic analysis, this protocol permits simultaneous testing for multiple single-gene disorders.- - - - - - - - - - ranking = 265.00438485826keywords = preimplantation, embryo (Clic here for more details about this article) |
4/19. Absence of sperm sex chromosome aneuploidies in an X0/XYY man.OBJECTIVE: To determine appropriate genetic counseling of patients with a mosaic karyotype who wished to undergo assisted reproduction technology.DESIGN: Case report.SETTING: A tertiary center for assisted reproduction technology.PATIENT(S): A male with a mosaic karyotype X0/XYY.INTERVENTION(S): Analysis of ejaculated spermatozoa by using fluorescence in situ hybridisation with probes directed against chromosomes X, Y, and 18.MAIN OUTCOME MEASURE(S): Degree of sex chromosome aneuploidies in spermatozoa.RESULT(S): Levels of sex chromosome aneuploidies in spermatozoa were normal. On the basis of these findings, the couple proceeded to assisted reproduction technology without preimplantation genetic diagnosis and conceived a healthy male baby.CONCLUSION(S): Sex chromosome mosaicism in men does not necessarily lead to high levels of abnormal spermatozoa. Sex chromosome aneuploidies may be eliminated in the testes through the selective degeneration of abnormal spermatogenic cells.- - - - - - - - - - ranking = 52.000876971653keywords = preimplantation (Clic here for more details about this article) |
5/19. 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) |
6/19. Growth of heterokaryotic monozygotic twins discordant for Ullrich-turner syndrome during the first years of life.The rare observation of different karyotypes in monozygotic (MZ) twins, i.e., heterokaryotic monozygosity, occurs due to chromosomal aberration in one of the twins after separation of the embryos. We report on the differences of heterokaryotic MZ Turkish twins who are discordant for Ullrich-turner syndrome. Chromosomal analyses from peripheral lymphocytes revealed a 45,X/46,XX mosaicism in both twins. FISH analyses of buccal smears showed 99% of nuclei 45,X in twin A and 98% of nuclei 46,XX in twin B. These results are consistent with a non-mosaic 45,X and 46,XX karyotype, respectively. The girls showed a different growth pattern in the first years. As their genotype should be identical except for the number of X chromosomes, the difference in phenotype may be a pure result of loss of one X chromosome in the affected girl. Special interest is set on the spontaneous and growth hormone induced growth of the twins.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
7/19. Double mosaic aneuploidy: 45,X/47,XY, 8 in a male infant.We report on a 13-month-old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial penoscrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY, 8. The karyotype of cultured skin fibroblasts was 47,XY, 8 with no 45,X cells detected among 20 cells counted. tissues removed during surgery documented a 45,X/47,XY, 8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY, 8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
8/19. Sex chromosome rearrangements leading to partial aneuploidies and mosaicisms: use of QF-PCR for detection and quantification of the involved cell lines.Chromosome rearrangements can lead to aneuploidies of specific chromosome regions and could be present in the entire individual or limited to some tissues (mosaicism) depending on the developmental stage of the embryo when the rearrangement occurs. We report 6 cases with sex chromosome rearrangements identified by conventional cytogenetics and tested by quantitative fluorescent polymerase chain reaction (QF-PCR). QF-PCR has been largely employed for rapid detection of common aneuploidies in pre-natal and post-natal diagnosis and consists in dna amplification by polymerase chain reaction (PCR) using fluorescent labelled primers and the analysis of chromosome specific small tandem repeats (STR). We tested 5 sex chromosome specific STR markers in multiplex PCR amplifications together with other chromosome specific STR markers as control amplifications. The PCR products were analysed by capillary electrophoresis. The results from QF-PCR analysis were obtained within one day and confirmed our cytogenetic observations. This study shows that QF-PCR analysis can detect sex chromosome imbalance and also suspect mosaicism or chromosome rearrangement.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
9/19. First trimester diagnosis of partial mole.BACKGROUND: Partial mole is one of the two distinctive subtypes of hydatidiform mole. It is usually paternally derived triploid conceptions in which embryonal development occurs in association with trophoblastic hyperplasia. The definite diagnosis is confirmed by pathological and cytogenetic studies. Ultrasound might be helpful to diagnose partial mole in the first trimester. CASE: A 25-year-old woman, gravida 2, para 0-0-1-0, was initially seen for antenatal care at 6 weeks' pregnant. Ultrasound was undertaken at 13 weeks' pregnancy due to her first fetal anomaly, which demonstrated partial mole and embryonic death. The serum beta hCG was 190,900 mIU/ml. suction curettage was performed without complication. Histopathological study confirmed partial mole and cytogenetic study of the placenta revealed an uncommon karyotype, mosaicism of triploid (69,XXX/69,XXY). serum beta hCG was declined and negative at 8 weeks. The patient was well and serum beta hCG remained normal throughout 6 months of follow-up. CONCLUSION: Although the majority of partial mole pregnancies cannot be detected by routine first trimester ultrasound examination, first trimester ultrasound can be helpful in some cases, such as this one. If partial mole is sonographically suspected, it should be confirmed with histopathology and cytogenetic studies. The management is similar to complete mole including prompt evacuation and careful monitoring of beta hCG.- - - - - - - - - - ranking = 2keywords = embryo (Clic here for more details about this article) |
10/19. 'Round head' sperm defect. Ultrastructural and meiotic segregation study.The sperm 'round head' defect, also known as globozoospermia, is an uncommon alteration of sperm morphology generally characterised by 100% round headed sperm totally lacking an acrosome. This alteration is a genetic sperm defect as demonstrated by analysing the incidence of these alterations in a population of infertile men showing a history of consanguinity and cases belonging to the same family. Ultrastructural characteristics and meiotic segregation in spermatozoa from two patients affected by 'round head' sperm defect were investigated. The sperm quality was examined by light and transmission electron microscopy (TEM) and fluorescence in situ hybridization (FISH) analysis was performed in order to investigate the meiotic behavior of chromosomes namely gonosomes and chromosome 18. TEM analysis, mathematically elaborated, clearly diagnosed the 'round head' genetic sperm defect and highlighted at the same time the presence of other phenotypic alterations belonging to pathologies such as immaturity, apoptosis and necrosis. It is possible to hypothesize that round headed sperm could be a 'weak phenotype' allowing the sperm pathologies to overlap with a sperm defect of genetic origin, further compromising fertilizing potential. FISH analysis revealed a positive correlation between globozoospermia and higher disomies of sex chromosomes and diploidies suggesting a higher risk of creating an aneuploid embryo after intracytoplasmic sperm injection.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
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