1/37. Transcatheter creation of an atriopulmonary communication in the Hemi-Fontan or Glenn circulation.There have been several modifications of the fontan procedure, which has been used for palliation of the functionally univentricular circulation since its conception in the early 1970s. The development of intrahepatic veno-venous fistulas, pulmonary arteriovenous fistulas, and communications from the hepatic vein to the pulmonary venous atrium, are some of the complications encountered by patients with cavo-pulmonary communications. We describe transcatheter creation of an atriopulmonary communication, with simultaneous implantation of a stent, as a method of reducing or preventing pulmonary arteriovenous fistulas and associated right-to-left shunting in this setting. The intervention has been undertaken in two patients following a Hemi-fontan procedure, itself created subsequent to a Glenn anastomosis. The combination of these procedures creates communicating atriopulmonary and cavopulmonary circulations.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
2/37. Multiple anomalies in a fetus exposed to low-dose methotrexate in the first trimester.BACKGROUND: methotrexate has multiple therapeutic uses in women of reproductive age including treatment for ectopic pregnancy, neoplastic disease, autoimmune disorders, and inflammatory conditions. More frequent use of methotrexate may result in an increased number of exposures in pregnant women and their fetuses. CASE: A 16-year-old gravida 1, para 0 used oral methotrexate treatment of 7.5 mg per day for psoriasis for 2 days at 3.5 weeks postconception. Multiple anomalies were noted on an 18-week ultrasound. Fetopsy revealed craniofacial, axial skeletal, cardiopulmonary, and gastrointestinal abnormalities. CONCLUSION: A minimal, low-dose, brief exposure to methotrexate in the first trimester resulted in a fetus with multiple internal and external malformations. Some of the anomalies (craniofacial and skeletal) have been previously reported with first- trimester methotrexate exposure. This case depicts the association of cardiopulmonary and gastrointestinal abnormalities with methotrexate exposure.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
3/37. Unicornuate uterus and unilateral ovarian agenesis associated with pelvic kidney.In this report, we present a case of unilateral mullerian and ovarian agenesis associated with pelvic kidney. The patient was a 27-year-old woman who complained of an inability to conceive. We performed a hysterosalpingogram, hysteroscopy, laparoscopy, and an excretory urogram (IVP). At laparoscopy, we found an unicornuate uterus without a rudimentary horn. The right round ligament, fallopian tube, and ovary were present, but they were absent at the left side. Postoperative IVP revealed a pelvic kidney. Ultimately, her infertility was found to be due to a male factor: the abnormal semen of her partner. The couple was referred to our in vitro fertilization (IVF) unit. Because of the close embryologic association between the genital and urinary tracts, evaluation of the urinary tract in any patient with a genital or gonadal anomaly is necessary.- - - - - - - - - - ranking = 11.363818819707keywords = fertilization (Clic here for more details about this article) |
4/37. Spontaneous twin gestation after vaginal dilation in a woman with uterus didelphys and bladder exstrophy.BACKGROUND: bladder exstrophy is an uncommon anomaly rarely associated with uterus didelphys. Fertility is limited by associated vaginal malformations, which have traditionally required surgical reconstruction. CASE: A woman with a history of bladder exstrophy and hypoplastic vagina presented complaining of painful intercourse. The patient underwent vaginal dilator treatment after corrective surgery for the bladder defect. Without any further fertility therapy she subsequently conceived twins, with one implantation in each horn of a didelphic uterus. CONCLUSION: bladder exstrophy, uterus didelphys, and vaginal hypoplasia share a common embryological devel-opment, and the finding of one anomaly can alert to the presence of another. Vaginal dilators may be used in place of surgical reconstruction to allow conception.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
5/37. 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 = 11.363818819707keywords = fertilization (Clic here for more details about this article) |
6/37. A case of body stalk anomaly arising in the second baby of a triplet pregnancy after in-vitro fertilization and embryo transfer.We report a case of body stalk anomaly arising in the second baby of a triplet pregnancy after in-vitro fertilization and embryo transfer (IVF-ET). Body stalk anomaly or limb-body wall complex is a rare congenital anomaly with a series of similar clinical manifestations and poor prognosis. IVF-ET is an effective treatment for various types of infertility. We summarize and discuss herein the relation with the sequence of genesis for such malformations and multiple pregnancies after IVF-ET.- - - - - - - - - - ranking = 56.819094098536keywords = fertilization (Clic here for more details about this article) |
7/37. Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error.Complete or mosaic trisomy for all of chromosome 1q has been seen rarely in a recognized pregnancy. A patient presented with twins following in vitro fertilization (IVF). Ultrasound showed twin A to have a diaphragmatic hernia, thick nuchal fold, and subtle intracranial abnormalities. Twin B appeared normal and a thick dividing membrane was seen. amniocentesis of twin A showed a male karyotype with mosaic trisomy 1q in 57% of cells resulting from a translocation between chromosomes Yq12 and 1q12. Parental karyotypes were normal. The twins were delivered at 33 weeks. Twin A died at 1 hr of life. autopsy confirmed the left diaphragmatic hernia and hypoplastic lungs. autopsy also revealed a partial cleft palate, syndactyly of the second and third toes bilaterally, external deviation of the left 5th toe, and contractures of the index fingers bilaterally. A recent report documented formation of a chimera resulting from embryo amalgamation after IVF. Given the rarity of the cytogenetic findings in our case, we sought to determine if the mosaicism was a result of chimera formation related to the IVF. Thirteen polymorphic loci throughout the genome, in addition to four on 1q and four on 1p, were amplified by PCR. Only two alleles were observed at each of these loci in twin A, one paternal and the other maternal. We present further clinical findings of this case with a rare cytogenetic abnormality that appears to have originated from a postzygotic mitotic error and not embryo amalgamation.- - - - - - - - - - ranking = 56.819094098536keywords = fertilization (Clic here for more details about this article) |
8/37. A case report of body stalk anomaly complicating a twin pregnancy.The body stalk anomaly is described as a maldevelopment during embryonic folding in the third week after conception, resulting in a severe defect of the fetal abdominal wall. The extra-embryonic coelom fails to obliterate and parts of the fetal body remain in an exo-coelomic situation. Reports on its occurrence in multiple pregnancies have in the past focused on concordance between monozygotic twins. We report on a case of a twin pregnancy after fertility treatment that was complicated by a Body Stalk Anomaly in one of the fetuses with a positive neonatal outcome of the unaffected twin.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
9/37. Multiple supernumerary ring chromosomes of different origin in a patient: a clinical report and review of the literature.We describe a patient with multiple congenital abnormalities exhibiting 2-5 supernumerary chromosomes per cells. A variety of FISH techniques were used to demonstrate that the markers are probably rings, lack detectable telomere sequences, and originate from different non-acrocentric chromosomes, namely 6, 7, 10, 12, and 19. Such cases are extremely rare and this is only the 8th published report of an individual presenting three or more supernumerary chromosomes. We reviewed all available cases of multiple supernumerary chromosomes and the collective data indicate that multiple markers seem always to be rings of different origin. These results provide evidence that such multiple ring markers cannot possibly represent duplication or recurrence of an original structural rearrangement but must be derived with a common causality from different chromosomes. Possible mechanisms for the simultaneous production of multiple rings from different chromosomes are proposed, including the breakdown and rearrangement of a haploid complement shortly after fertilization in a triploid zygote.- - - - - - - - - - ranking = 11.363818819707keywords = fertilization (Clic here for more details about this article) |
10/37. Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS.BACKGROUND: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare sporadic condition. CASE: We identified an infant with major malformations resembling OEIS. He was the product of a 30-week triplet pregnancy conceived by in vitro fertilization (IVF) and evaluated by chorionic villi sampling (CVS). In this article, we review the possible pathogenetic mechanisms in this case, including IVF, multiple gestation, trauma to the uterus or uterine vessels following CVS, and placenta accreta. CONCLUSIONS: We conclude that the cumulative effects of all or some of these factors may have resulted in uteroplacental insufficiency adequate to produce this phenotype. This case provides additional evidence for the uterine vascular pathogenesis of OEIS complex in humans.- - - - - - - - - - ranking = 11.363818819707keywords = fertilization (Clic here for more details about this article) |
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