1/30. Molecular cloning of translocation breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis.in vitro fertilization (IVF) centres with preimplantation genetic diagnosis (PGD) programmes are often confronted with the problem of identifying chromosomal abnormalities in interphase cells biopsied from preimplantation embryos of carriers of a reciprocal translocation. The present authors have developed a dna testing based approach to analyse embryos from translocation carriers, and this report describes breakpoint-spanning probes to detect abnormalities in cases of the most common human translocation (i.e. the t(11;22)(q23;q11)). Screening a yeast artificial chromosome (YAC) library for probes covering the respective breakpoint regions in the patient lead to probes for the breakpoint on chromosome 11q23. The physically mapped YAC and bacterial artificial chromosome (BAC) clones from chromosome 22 were then integrated with the cytogenetic map, which allowed localization of the breakpoint on chromosome 22q11 to an interval of less than 84 kb between markers D22S184 and KI457 and to prepare probes suitable for interphase cell analysis. In summary, breakpoint localization could be accomplished in about 4 weeks with additional time needed to optimize probes for use in PGD.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
2/30. Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings.Preimplantation genetic diagnosis (PGD) was performed in two couples to avoid chromosomally unbalanced progeny in a family in which a brother and a sister carry an identical maternally inherited balanced translocation t(3;11)(q27.3;q24.3). Embryos were biopsied 3 days after fertilization and blastomeres were analysed by fluorescent in-situ hybridization (FISH). Embryos were classified as unbalanced or normal/balanced. In the first case, the male carrier and his wife underwent one IVF/PGD treatment cycle. In all, 18 embryos were analysed. Of those, 15 revealed an unbalanced karyotype. For one embryo, results were not conclusive, from one embryo results were contradictory and one embryo was classified as normal/balanced and subsequently transferred. A singleton pregnancy was achieved. The PGD analysis was confirmed at 16 weeks gestation by amniocentesis. At term, a healthy girl with a balanced karyotype was born. pregnancy and delivery were without complications. In the second case, the female carrier and her husband underwent two IVF/PGD treatment cycles. During the first cycle, three embryos were analysed. One embryo revealed an unbalanced karyotype and two embryos were designated a normal/balanced karyotype and transferred but no pregnancy was achieved. During the second PGD cycle three embryos were analysed. Of those, none appeared suitable for transfer. The couple decided not to undergo further treatment. Our results indicate that for individuals carrying a reciprocal translocation PGD is a feasible approach to obtain embryos with a normal chromosome balance and to avoid both spontaneous and induced abortion.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
3/30. Maternal origin of monosomy 21 derived from ICSI.With the worldwide diffusion of the intracytoplasmic sperm injection (ICSI) procedure in recent years, the issue of possible genetic risks of this new and powerful technique has attracted considerable attention. An important concern is whether ICSI facilitated the passage of genetic defects from spermatozoa to offspring. ICSI was performed with spermatozoa from a frozen-thawed sperm sample from a testicular sperm extraction (TESE) of a 38 year old man who suffered from azoospermia. His wife was 36 years old. The resulting pregnancy spontaneously aborted at 8 weeks gestation after embryo replacement. Cytogenetic investigation displayed monosomy 21. The paternal origin of the single chromosome 21 was determined by molecular analysis. The segregation error leading to loss of one chromosome 21 is likely to have occurred during oogenesis rather than as a direct consequence of ICSI. Nonetheless, monosomy 21 is extremely rare and it cannot be excluded that ICSI assisted the fertilization of an abnormal oocyte.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
4/30. Internal jugular vein thrombosis following in-vitro fertilization in a woman with protein s deficiency and heterozygosity for the prothrombin 3' UTR mutation, despite anticoagulation with heparin.We report the case of a 31-year-old woman with protein s deficiency and heterozygosity for the prothrombin 3' UTR mutation who developed an internal jugular vein thrombosis despite therapeutic anticoagulation with a low molecular weight heparin, following in-vitro fertilization. This case indicates that the stimulus to thrombosis in such women is intense and can occur despite apparent therapeutic anticoagulation. Close attention should, therefore, be paid to any women with a personal or family history of thrombosis and the potential thrombotic risks associated with assisted conception must be discussed.- - - - - - - - - - ranking = 5.1038684544446keywords = fertilization, conception (Clic here for more details about this article) |
5/30. Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.Approximately 15-20% of all clinically recognised pregnancies abort, most commonly between 8-12 gestational weeks. While the majority of early pregnancy losses is attributed to cytogenetic abnormalities, the aetiology of approximately 40% of early abortions remains unclear. To determine additional factors causing spontaneous abortions we retrospectively searched for uniparental disomies (UPD) in 77 cytogenetically normal diploid spontaneous abortions. In all cases an unbalanced chromosome anomaly was ruled out by cytogenetic investigation of chorionic/amniotic membranes and/or chorionic villi. For UPD screening microsatellite analyses were performed on dna of abortion specimens and parental blood using highly polymorphic markers showing UPD in two cases. The distribution of markers analysed indicated maternal heterodisomy for chromosome 9 (UPhD(9)mat) in case 1 and paternal isodisomy for chromosome 21 (UPiD(21)pat) in case 2. The originating mechanism suggested was monosomy complementation in UPiD(21)pat and trisomy rescue in UPhD(9)mat. In the case of UPhD(9)mat purulent chorioamnionitis was noted and a distinctly growth retarded embryo of 3 cm crown-rump length showing no gross external malformations. Histological analysis in the case of UPiD(21)pat suggested a primary anlage defect. Our results indicate that less than 3% of genetically unexplained pregnancy wastage is associated with total chromosome UPD. UPD may contribute to anlage defects of human conception. Chromosome aneuploidy correction can occur in very early cleavage stages. More research, however, ought to be performed into placental mosaicism to further clarify timing and mechanisms involved in foetal UPD.- - - - - - - - - - ranking = 0.10386845444455keywords = conception (Clic here for more details about this article) |
6/30. prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletion.An adult female patient with a history of miscarriages was found to be carrying a stable supernumerary chromosome. The patient also carried a reciprocal paracentric deletion in chromosome 13q21/22. microdissection and reverse fluorescence in situ hybridization FISH revealed that this supernumerary chromosome was derived from region 13q21 --> 13q22. The presence of a neocentromere on this supernumerary chromosome was confirmed by the absence of detectable alpha satellite dna using FISH and the presence of centromere proteins CENP-C and CENP-A using immunofluorescence. The absence of telomere sequences suggests that the marker is a ring chromosome (r(13)). FISH using ordered BACs from the chromosome region 13q21 --> 13q31 permitted the precise positioning of the r(13) chromosome and the corresponding deletion to chromosome bands 13q21.32 --> 13q22.2. BAC 280J7 from within the r(13) was used as a FISH probe for the prenatal analysis of amniocytes at 16 weeks of gestation, which revealed a normal karyotype for the fetus. This r(13) chromosome represents the first description of chromosome 13 of the rarer class of neocentric chromosomes that are derived from interstitial deletions. It represents the first example of prenatal diagnosis in a phenotypically normal female that was ascertained to carry a neocentric marker. The presence of such a neocentric marker/deletion karyotype in a parent presents unique possible karyotypic outcomes for conceptions and unusual challenges for genetic counseling.- - - - - - - - - - ranking = 0.10386845444455keywords = conception (Clic here for more details about this article) |
7/30. Obstetric and gynecologic complications in women with marfan syndrome.OBJECTIVE: To analyze the maternal and fetal outcomes of pregnancy and gynecologic problems in women with marfan syndrome. STUDY DESIGN: The outcomes of 14 pregnancies in 4 women with marfan syndrome were prospectively observed between January 1988 and December 2000. The cardiovascular and obstetric complications were analyzed. During pregnancy all the patients were carefully monitored with serial echocardiography and close attention to symptoms. RESULTS: Of the 14 pregnancies, 5 (35.7%) ended in abortion, and 3 of them occurred in the early second trimester due to cervical incompetence. Premature onset of labor occurred in 2 pregnancies at 31 and 34 weeks. postpartum hemorrhage complicated 3 deliveries, and inversion of the uterus occurred in 1 patient. Significant cardiovascular complications occurred in 2 patients, who required surgical correction of the aortic aneurysm and replacement of the aortic valve. In one patient the operation was performed within hours of vaginal delivery, and the other patient underwent surgery 8 weeks postpartum. No maternal death occurred in the study. One infant in the series was diagnosed as having marfan syndrome. A premature infant delivered at 31 weeks died on the second day of life. CONCLUSION: women with marfan syndrome are at high risk of aortic dissection in pregnancy even in the absence of preconceptional aortic root dilatation. Obstetric complications in patients with this condition have been underreported in the past. women with aortic root dilatation of < 40 mm usually tolerate pregnancy well, with good maternal and fetal outcomes. women with marfan syndrome should be counseled regarding the risk of pregnancy to both mother and fetus. patients who have cardiac decompensation or aortic dilatation > 40 mm are advised to avoid pregnancy.- - - - - - - - - - ranking = 0.10386845444455keywords = conception (Clic here for more details about this article) |
8/30. Twin-twin transfusion syndrome in a dizygotic monochorionic-diamniotic twin pregnancy.We present a case of twin-twin transfusion syndrome with discordant gender. Monochorionicity was confirmed by surgical pathology. cytogenetic analysis showed normal 46,XX and 46,XY karyotypes. Microsatellite analysis using reliable pericentromeric markers was consistent with dispermic fertilization of two separate ova. This suggests that monochorionicity, rather than zygosity, may be responsible for the development of placental vascular anastomoses.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
9/30. Post-miscarriage thyroid dysfunction.BACKGROUND: Thyroid dysfunction is a common postpartum event affecting as many as 16.7% of women. The purpose of this paper was to report the first known case of post-miscarriage thyroid dysfunction. CASE: A 32-year-old woman with a 9-year history of infertility underwent in vitro fertilization. After two spontaneous miscarriages, she delivered a full-term healthy child. Spontaneous menses did not return following delivery, and hormonal evaluation revealed severe postpartum thyroid disease associated with hyperprolactinemia. Retrospective analysis of frozen sera revealed thyroid dysfunction and hyperprolactinemia after the first miscarriage, even though the gestation lasted only 47 days. CONCLUSION: The present case of thyroid dysfunction following a first-trimester miscarriage raises issues concerning the immunology of pregnancy and thyroid dysfunction after pregnancy. The incidence of post-miscarriage thyroid dysfunction and severe postpartum thyroid disease resulting in amenorrhea requires further study.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
10/30. Evaluation and treatment of familial globozoospermia in five brothers.OBJECTIVE: To document the pathology of five siblings with complete globozoospermia and to report the effectiveness of repeated intracytoplasmic sperm injection (ICSI) treatment as therapy. DESIGN: Case report. SETTING: A tertiary center for assisted reproduction. patients(S): Five siblings with globozoospermia. INTERVENTION(S): Twenty cycles of repeated ICSI treatment. Detailed light and electron microscopy studies were performed on three of the globozoospermic brothers. MAIN OUTCOME MEASURE(S): Clinical pregnancy and live birth after ICSI treatment. RESULT(S): light and electron microscopy showed that all spermatozoa had round heads and no acrosome. Of 129 metaphase-II oocytes injected, 49 fertilized normally, giving an overall fertilization rate of 38% (range, 0-100%). No pregnancies resulted from 13 cycles in brothers 1-3. Brothers 4 and 5 had three pregnancies after seven ICSI cycles, with one live birth and two first-trimester losses. CONCLUSION(S): Despite variable fertilization rates, pregnancies and a live birth can be achieved after repeated ICSI treatment cycles in globozoospermic siblings. No apparent pattern was manifest that reflected the true pathology or determined the outcome of ICSI treatment.- - - - - - - - - - ranking = 2keywords = fertilization (Clic here for more details about this article) |
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