11/75. in vitro fertilization and blastocyst transfer for carriers of chromosomal translocation.blastocyst transfers (BT), may benefit chromosomal translocation-carrier couples who suffer multiple miscarriages or are unable to achieve pregnancy following classical ART techniques. in vitro culture applies an additional selection pressure, so that those embryos which achieve blastocyst formation have higher survival probability as healthy balanced translocation carriers or unaffected embryos.Sixteen IVF cycles were performed in 11 patients. When blastocyst are obtained, implantation rate per blastocyst and delivery rates (7/11 cycles, eight healthy babies born) are high. However, the overall blastocyst formation rate is low (20%), and as a consequence in nearly half of the cycles, no blastocyst can be obtained. We propose that this strategy may be used initially as an alternative or a complement to preimplantation genetic diagnosis, and to apply the forces of natural selection in vitro.- - - - - - - - - - ranking = 1keywords = preimplantation, embryo (Clic here for more details about this article) |
12/75. Primary Ewing's sarcoma/peripheral primitive neuroectodermal tumor at the vertex of the skull with elevated serum carcinoembryonic antigen: case report.A primary Ewing's sarcoma arising in the skull is relatively rare. Although a small number of case reports noted elevated carcinoembryonic antigen (CEA) in patients with primary central nervous system (CNS) neoplasms, there is no report of Ewing's sarcoma/peripheral primitive neuroectodermal tumor (PNET) with elevated serum levels of CEA. A 7-year-old boy who had episodes of headache and vomiting had noticed a solid mass in the vertex of the head. Imaging studies revealed a large intra- and extracranial tumor at the vertex of the skull. Hematological examination demonstrated high serum levels of CEA: 91.09 ng/ml. The patient initially underwent an embolization of the bilateral middle meningeal arteries with Gelfoam particles. One week later, the patient was operated on and a subtotal resection of the tumor was performed. On histopathological and molecular genetic examination, the tumor was diagnosed as a Ewing's sarcoma/peripheral PNET. Immunohistochemical study showed strongly positive staining for CEA in the tumor cells. The serum level of CEA was normalized at 0.83 ng/ml after the tumor was removed and the boy underwent radiotherapy and 3 courses of chemotherapy. This is the first reported case of a primary Ewing's sarcoma/peripheral PNET at the vertex of the skull with elevated serum CEA.- - - - - - - - - - ranking = 0.070336419364594keywords = embryo (Clic here for more details about this article) |
13/75. pulmonary atresia with hypoplastic right ventricle. A clinical embryological study.An unusual case of pulmonary atresia with an aberrant karyotype of 46,XX,t(6;8)(p21.2;q11.2) is reported. Fetal ultrasonic examination at the 20th week of gestation revealed a hypoplastic right ventricle and an intact interventricular septum. Authors summarize their postnatal findings in fetal heart and the large adjacent vessels with special reference to the pathogenesis of this rare congenital heart defect. The observation delineates right-ventricular outflow tract obstruction associated with an abnormal pulmonary blood supply. The anatomy of the systemic pulmonary collaterals was studied and correlated with multifocal disorders in the system of the pharyngeal arch arteries in the early embryonic development.- - - - - - - - - - ranking = 0.070336419364594keywords = embryo (Clic here for more details about this article) |
14/75. Robertsonian translocations--reproductive risks and indications for preimplantation genetic diagnosis.BACKGROUND: Robertsonian translocations carry reproductive risks that are dependent on the chromosomes involved and the sex of the carrier. We describe five couples that presented for preimplantation genetic diagnosis (PGD). methods: PGD was carried out using cleavage-stage (day 3) embryo biopsy, fluorescence in-situ hybridization (FISH) with locus-specific probes, and day 4 embryo transfer. RESULTS: Couple A (45,XX,der(14;21)(q10;q10)) had two previous pregnancies, one with translocation trisomy 21. A successful singleton pregnancy followed two cycles of PGD. Couple B (45,XX,der(13;14)(q10;q10)) had four miscarriages, two with translocation trisomy 14. One cycle of PGD resulted in triplets. Couple C (45,XX,der(13;14)(q10;q10)) had four years of infertility; two cycles were unsuccessful. Couple D (45,XY,der(13;14)(q10;q10)) presented with oligozoospermia. A singleton pregnancy followed two cycles of PGD. Couple E (45,XY,der(13;14)(q10;q10)) had a sperm count within the normal range and low levels of aneuploid spermatozoa. PGD was therefore not recommended. No evidence for a high incidence of embryos with chaotic or mosaic chromosome complements was found. CONCLUSIONS: For fertile couples, careful risk assessment and genetic counselling should precede consideration for PGD. Where translocation couples need assisted conception for subfertility, PGD is a valuable screen for imbalance, even when the risk of viable chromosome abnormality is low.- - - - - - - - - - ranking = 4.9015290128896keywords = preimplantation, embryo (Clic here for more details about this article) |
15/75. Undifferentiated embryonal sarcoma with unusual features arising within mesenchymal hamartoma of the liver: report of a case and review of the literature.Undifferentiated embryonal sarcoma (UES) is a rare and highly malignant hepatic neoplasm, affecting almost exclusively the pediatric population. It has replaced malignant mesenchymoma, under which diagnostic term the first three cases were described. A link between embryonal sarcoma and mesenchymal hamartoma of the liver (MHL) has long been proposed, because of clinicopathologic overlaps of these entities; however, until recently, this association remained tenuous. Cases of UES arising in a background of mesenchymal hamartoma of the liver have previously been reported in two teenage girls. Discovery of a similar genetic abnormality in MHL and UES has clinched the supposed link between them. There have also been two reports of UES with prominent cystification, one associated with peripheral eosinophilia, and thereby masquerading as hydatid cyst of the liver. We report a case of UES arising in a young boy with MHL, with unusual histologic features, including large mesothelial-lined cysts and ectopic adrenal cortical tissue under Glisson's capsule.- - - - - - - - - - ranking = 0.084403703237513keywords = embryo (Clic here for more details about this article) |
16/75. Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.We describe three unrelated cases of Wiedemann-Beckwith syndrome (WBS). Two of them were diagnosed postnatally while the third was detected during pregnancy that resulted in elective termination. Amniotic karyotypes were normal in all. PCR amplification of polymorphic loci mapping to 11p15.5 region documented partial trisomy of 11p15.5 due to paternal translocation in one, and segmental and mosaic segmental unipaternal disomy (UPD) in the second and third cases, respectively. Based on findings documented in these cases and the literature, we tabulated the anomalies that might be detected prenatally by ultrasound and that may suggest the syndrome. Constant findings included fetal overgrowth, polyhydramios, enlarged placenta, and specifically a distended abdomen. As most described signs developed after 22 weeks of gestation, a careful follow-up should be carried on until late stages of pregnancy. An amniotic karyotype might not detect subtle chromosomal rearrangements. We therefore recommend utilizing PCR of polymorphic loci on 11p15.5, in addition to conventional cytogenetic analysis of the fetus and both parents to detect possible maternal deletions or inversions, paternal duplications, and UPD that may account for the largest subset of sporadic WBS reaching 25% of cases. An early diagnosis of WBS is important for counseling the parents concerning potential risk for developing embryonic tumors, selection of the mode of delivery due to potential adrenal cysts that might bleed during labor, and prevention of neonatal hypoglycemia.- - - - - - - - - - ranking = 0.014067283872919keywords = embryo (Clic here for more details about this article) |
17/75. Atypical pleomorphic extraosseous ewing tumor/peripheral primitive neuroectodermal tumor with unusual phenotypic/genotypic profile.A pleomorphic undifferentiated tumor primarily located in the retroperitoneum with a phenotype compatible with an extraosseous Ewing tumor/peripheral primitive neuroectodermal tumor (ET/pPNET) pattern and unusual molecular features is described. Immunohistochemically, HBA-71 (CD99/mic2) and several neural markers were intensively expressed together with scattered cells expressing carcinoembryonic antigen (CEA). Short-term culture showed biphasic neuroblastic and epithelioid cell populations, with the latter expressing germ cell markers (CEA, alpha-fetoprotein, and the beta-subunit of chorionic gonadotrophin). Conventional cytogenetics displayed several chromosomic rearrangements, especially a complex translocation t(17,2,22,13) (q21::q11-->q33::q12-->q13::q14). These structural abnormalities were confirmed using fluorescence in situ hybridization analysis. Molecular studies revealed EWS-FEV fusion transcripts (exon 7 of the EWS gene and exon 2 of the FEV gene). In addition, a new p53 mutation not previously reported in ET/pPNET involving exon 5 codon 138: GCC to GAC (Ala/Asp) was detected.In our case, we emphasize the presence of atypical features not only from the phenotypic point of view but also at the genetic level as well as the value of detecting such markers in the differential diagnosis with other abdominal pleomorphic tumors.- - - - - - - - - - ranking = 0.014067283872919keywords = embryo (Clic here for more details about this article) |
18/75. Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation.BACKGROUND: Y-autosome (Y/A) translocations have been reported in association with male infertility. Different hypotheses have been made as to correlations between Y/A translocations and spermatogenetic disturbances. We describe an azoospermic patient with a de-novo Y;14 translocation: 45,X,dic(Y;14)(q12;p11). methods AND RESULTS: Cytogenetic, fluorescent in-situ hybridization (FISH) and molecular studies have been performed. A 14/22 (D14Z1/D22Z1) centromere and a Y centromere (DYZ1) probe both showed a signal on the translocation chromosome, confirming its dicentricity. Each copy of the translocation chromosome had only one primary constriction, with inactivation of the Y centromere in most (90%) of the cells. The 14 centromere was inactive in the remaining cells (10%). FISH and molecular deletion mapping analysis allowed acute assignment of the Yq breakpoint to the junction of euchromatin and heterochromatin (Yq12), distal to the AZF gene location (Yq11). CONCLUSIONS: This study supports the hypothesis that in Y/A translocations infertility might be related to meiotic disturbances with spermatogenetic arrest. In addition, sex chromosome molecular investigations, performed on single spermatids, suggest a highly increased risk of producing chromosomally abnormal embryos.- - - - - - - - - - ranking = 0.014067283872919keywords = embryo (Clic here for more details about this article) |
19/75. Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies.The incidence of Y/autosome translocations is low. Whereas involvement of non-acrocentric chromosomes often leads to infertility, cases related with acrocentric chromosomes are usually familial with no or minimal effect on fertility. A de novo (Yp/13p) translocation was found in a 32-year-old male referred for severe oligozoospermia. Conventional cytogenetic procedures (GTG, CBG and NOR banding) and molecular cytogenetic techniques (fluorescence in situ hybridization, FISH) were performed on high-resolution chromosomes obtained after peripheral blood lymphocyte culture as also on interphase nuclei of spermatogenic cells from semen samples. Screening of AZF microdeletions in the Yq11.2 region known to be involved with spermatogenesis defects was also performed. GTG banding showed a (Yp/13p) translocation in all scored metaphases. CBG and NOR staining of the derivative chromosome revealed the maintenance of Yq heterochromatin and of the 13p NOR region. FISH with centromeric Y and 13/21 probes, SRY specific probe and X/Y (p and q arms) sub-telomeric probes gave the expected number/location of fluorescent signals. Hybridisation with a pan-telomeric repeat (TTAGGG) probe showed an absence of the telomeric sequences at the fusion point of the rearranged chromosome. FISH analysis with probes to chromosomes X, Y, 13 and 18 showed an abnormal segregation of the translocated chromosome during meiosis I, which explains that only 13.6% of the secondary spermatocytes were normal. Most of these became arrested, as after meiosis II the large majority of the round spermatids were normal (70%), as were in consequence most of the sperm (85.1%). Multiplex-PCR confirmed the intactness of the SRY region and showed absence of AZF microdeletions. We report a novel de novo (Yp;13p) translocation characterised by loss of the 13p and Yp telomeres. Meiotic studies using FISH demonstrated meiosis I chromosome unpairing and mal segregation that justifies the severe oligozoospermia. Although most sperm have a normal chromosomal constitution, preimplantation genetic diagnosis should be considered an option for this patient.- - - - - - - - - - ranking = 0.97186543225416keywords = preimplantation (Clic here for more details about this article) |
20/75. First reported convergence of premature ovarian failure and cutis marmorata telangiectatica congenita.OBJECTIVE: To describe the convergence of five rare phenotypic features in a woman with premature ovarian failure referred for reproductive endocrinology evaluation.DESIGN: Case report and literature review. SETTING: Major urban infertility referral center. PATIENT(S): A 24-year-old nulligravida with cutis marmorata telangiectatica congenita (CMTC), premature ovarian failure, unilateral ovarian agenesis, septate uterus, and de novo balanced autosomal translocation. INTERVENTION(S): High-resolution chromosomal evaluation, radiographic study of reproductive organs, and assessment of endogenous estrogen production. MAIN OUTCOME MEASURE: Patient counseling regarding future reproductive options (i.e., donor oocyte in vitro fertilization/embryo transfer), and satisfactory management of hypoestrogenism using oral contraceptives. RESULT(S): We identified a balanced reciprocal translocation 46,XX t(8;9)(q22.1;p24.1), and confirmed unilateral ovarian agenesis with midline intrauterine septum. CONCLUSION(S): Although genetic factors considered contributory to premature ovarian failure usually involve the x chromosome, in our patient a previously undescribed autosomal translocation was identified in association with CMTC, a rare vascular disorder. The fundamental role of follicular oxygenation in oocyte competence and subsequent ovarian function is discussed. From the clinical and laboratory findings evident in this unusual case, a developmental hypothesis connecting the vascular abnormalities of CMTC and premature ovarian failure is offered.- - - - - - - - - - ranking = 0.014067283872919keywords = embryo (Clic here for more details about this article) |
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